CleftGeneDB-Search

Gene: GAD1

Basic information

Tag	Content
Uniprot ID	Q99259; Q49AK1; Q53TQ7; Q9BU91; Q9UHH4;
Entrez ID	2571
Genbank protein ID	AAA52512.1; AAH36552.1; AAH02815.1; AAA35900.1; AAP88035.1; AAB26937.1; AAY24237.1; EAX11228.1; AAB26938.1; CAA80435.1; AAF18390.2; EAX11229.1; AAH26349.1; AAA72938.1; AAA62368.1; AAB59427.1;
Genbank nucleotide ID	XM_005246444.2; XM_017003758.1; NM_000817.2; XM_017003756.1; NM_013445.3; XM_011510922.1;
Ensembl protein ID	ENSP00000434696; ENSP00000486612; ENSP00000364421; ENSP00000341167; ENSP00000350928;
Ensembl nucleotide ID	ENSG00000128683
Gene name	Glutamate decarboxylase 1
Gene symbol	GAD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	15103710
Functional description	Catalyzes the production of GABA.
Sequence	MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF LQRTNSLEEK 60 SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA RDLLPAKNGE EQTVQFLLEV 120 VDILLNYVRK TFDRSTKVLD FHHPHQLLEG MEGFNLELSD HPESLEQILV DCRDTLKYGV 180 RTGHPRFFNQ LSTGLDIIGL AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS 240 SKDGDGIFSP GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA 300 LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY GAFDPIQEIA 360 DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT WNPHKMMGVL LQCSAILVKE 420 KGILQGCNQM CAGYLFQPDK QYDVSYDTGD KAIQCGRHVD IFKFWLMWKA KGTVGFENQI 480 NKCLELAEYL YAKIKNREEF EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP 540 KIKALMMESG TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL 594

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2OKJ
3VP6
2OKJ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GAD1	517552	Q0VCA1		Bos taurus	Prediction	More>>
1:1 ortholog	GAD1		J9P2A8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GAD1		A0A452F295		Capra hircus	Prediction	More>>
1:1 ortholog	GAD1	100052860	F6ZIC0		Equus caballus	Prediction	More>>
1:1 ortholog	GAD1	2571	Q99259	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Gad1	14415	P48318	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GAD1	468557	Q5IS68		Pan troglodytes	Prediction	More>>
1:1 ortholog	GAD1	396928	P48319		Sus scrofa	Prediction	More>>
1:1 ortholog	GAD1	100344727	G1T3T2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Gad1	24379	P18088		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gad1b		F1Q5U5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs769768841	p.Ala2Glu	missense variant	-	NC_000002.12:g.170818596C>A	ExAC,TOPMed,gnomAD
rs1171048529	p.Ser4Leu	missense variant	-	NC_000002.12:g.170818602C>T	TOPMed,gnomAD
RCV000311175	p.Pro6Leu	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170818608C>T	ClinVar
rs886055098	p.Pro6Leu	missense variant	-	NC_000002.12:g.170818608C>T	-
rs1362185333	p.Ser7Pro	missense variant	-	NC_000002.12:g.170818610T>C	TOPMed
rs1374670478	p.Ser8Trp	missense variant	-	NC_000002.12:g.170818614C>G	gnomAD
rs1374670478	p.Ser8Leu	missense variant	-	NC_000002.12:g.170818614C>T	gnomAD
rs775717691	p.Ala10Ser	missense variant	-	NC_000002.12:g.170818619G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr11Ile	missense variant	-	NC_000002.12:g.170818623C>T	NCI-TCGA
RCV000005363	p.Ser12Cys	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170818626C>G	ClinVar
rs149074954	p.Ser12Thr	missense variant	-	NC_000002.12:g.170818625T>A	ESP,ExAC,TOPMed,gnomAD
rs121918345	p.Ser12Phe	missense variant	Cerebral palsy, spastic quadriplegic, 1 (cpsq1)	NC_000002.12:g.170818626C>T	ExAC,gnomAD
rs121918345	p.Ser12Cys	missense variant	Cerebral palsy, spastic quadriplegic 1 (CPSQ1)	NC_000002.12:g.170818626C>G	UniProt,dbSNP
VAR_031021	p.Ser12Cys	missense variant	Cerebral palsy, spastic quadriplegic 1 (CPSQ1)	NC_000002.12:g.170818626C>G	UniProt
rs121918345	p.Ser12Cys	missense variant	Cerebral palsy, spastic quadriplegic, 1 (cpsq1)	NC_000002.12:g.170818626C>G	ExAC,gnomAD
COSM4822568	p.Ser13Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170818629C>G	NCI-TCGA Cosmic
rs776901218	p.Asn14Thr	missense variant	-	NC_000002.12:g.170818632A>C	ExAC,gnomAD
rs762380299	p.Ala15Val	missense variant	-	NC_000002.12:g.170818635C>T	ExAC,TOPMed,gnomAD
rs1298191081	p.Ala15Pro	missense variant	-	NC_000002.12:g.170818634G>C	gnomAD
rs1049731	p.Ala17Pro	missense variant	-	NC_000002.12:g.170818640G>C	TOPMed
rs1273863798	p.Ala17Val	missense variant	-	NC_000002.12:g.170818641C>T	gnomAD
rs1049731	p.Ala17Thr	missense variant	-	NC_000002.12:g.170818640G>A	TOPMed
rs758731063	p.Asp18Glu	missense variant	-	NC_000002.12:g.170818645C>A	ExAC,TOPMed,gnomAD
COSM3569946	p.Pro19Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170818646C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn20GlnPheSerTerUnk	frameshift	-	NC_000002.12:g.170818644_170818645insC	NCI-TCGA
rs766656844	p.Asn20Ser	missense variant	-	NC_000002.12:g.170818650A>G	ExAC,TOPMed,gnomAD
rs1486326172	p.Thr21Ile	missense variant	-	NC_000002.12:g.170818653C>T	gnomAD
rs961885637	p.Thr22Ala	missense variant	-	NC_000002.12:g.170818655A>G	TOPMed
NCI-TCGA novel	p.Leu24Met	missense variant	-	NC_000002.12:g.170818661C>A	NCI-TCGA
rs754605789	p.Pro26Ala	missense variant	-	NC_000002.12:g.170818667C>G	ExAC,TOPMed,gnomAD
rs754605789	p.Pro26Ser	missense variant	-	NC_000002.12:g.170818667C>T	ExAC,TOPMed,gnomAD
rs1476772814	p.Thr27Ser	missense variant	-	NC_000002.12:g.170818670A>T	gnomAD
rs77655188	p.Thr27Lys	missense variant	-	NC_000002.12:g.170818671C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1236349619	p.Thr28Lys	missense variant	-	NC_000002.12:g.170822087C>A	gnomAD
COSM3694978	p.Thr28Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822087C>T	NCI-TCGA Cosmic
rs771381936	p.Tyr29His	missense variant	-	NC_000002.12:g.170822089T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp30Gly	missense variant	-	NC_000002.12:g.170822093A>G	NCI-TCGA
rs112046206	p.Asp30Tyr	missense variant	-	NC_000002.12:g.170822092G>T	gnomAD
rs1397300359	p.Asp30Glu	missense variant	-	NC_000002.12:g.170822094T>A	gnomAD
rs112046206	p.Asp30Asn	missense variant	-	NC_000002.12:g.170822092G>A	gnomAD
rs1413245027	p.Thr31Ile	missense variant	-	NC_000002.12:g.170822096C>T	gnomAD
rs1355181677	p.Gly34Ser	missense variant	-	NC_000002.12:g.170822104G>A	gnomAD
rs987723157	p.Val35Met	missense variant	-	NC_000002.12:g.170822107G>A	TOPMed
rs752308335	p.Ala36Val	missense variant	-	NC_000002.12:g.170822111C>T	ExAC
rs767875112	p.Ala36Thr	missense variant	-	NC_000002.12:g.170822110G>A	ExAC,gnomAD
rs763572976	p.Gly38Val	missense variant	-	NC_000002.12:g.170822117G>T	ExAC,gnomAD
rs763572976	p.Gly38Glu	missense variant	-	NC_000002.12:g.170822117G>A	ExAC,gnomAD
rs1303846577	p.Cys39Tyr	missense variant	-	NC_000002.12:g.170822120G>A	gnomAD
COSM3569948	p.Lys42Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822128A>G	NCI-TCGA Cosmic
rs757217369	p.Gly44Arg	missense variant	-	NC_000002.12:g.170822134G>C	ExAC,gnomAD
rs1277897374	p.Leu45Ile	missense variant	-	NC_000002.12:g.170822137C>A	gnomAD
COSM4842897	p.Leu45Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822137C>G	NCI-TCGA Cosmic
rs778777603	p.Lys46Arg	missense variant	-	NC_000002.12:g.170822141A>G	ExAC,gnomAD
rs750389927	p.Cys48Ser	missense variant	-	NC_000002.12:g.170822147G>C	ExAC,gnomAD
rs1167204443	p.Gly49Ala	missense variant	-	NC_000002.12:g.170829475G>C	TOPMed,gnomAD
rs1238959934	p.Gly49Ser	missense variant	-	NC_000002.12:g.170822149G>A	TOPMed
rs749536845	p.Phe50Leu	missense variant	-	NC_000002.12:g.170829479C>G	ExAC,gnomAD
COSM4919241	p.Phe50Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829477T>G	NCI-TCGA Cosmic
COSM441492	p.Arg53Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829486A>G	NCI-TCGA Cosmic
rs1322594710	p.Asn55Ser	missense variant	-	NC_000002.12:g.170829493A>G	gnomAD
rs1276303274	p.Glu58Gly	missense variant	-	NC_000002.12:g.170829502A>G	gnomAD
rs138838552	p.Glu59Asp	missense variant	-	NC_000002.12:g.170829506G>C	ESP,ExAC,TOPMed,gnomAD
rs779072937	p.Glu59Gln	missense variant	-	NC_000002.12:g.170829504G>C	ExAC,TOPMed,gnomAD
rs138838552	p.Glu59Asp	missense variant	-	NC_000002.12:g.170829506G>T	ESP,ExAC,TOPMed,gnomAD
rs886412887	p.Lys60Asn	missense variant	-	NC_000002.12:g.170829509G>C	TOPMed
rs548422399	p.Arg62Cys	missense variant	-	NC_000002.12:g.170829513C>T	ExAC,TOPMed,gnomAD
rs375730988	p.Arg62His	missense variant	-	NC_000002.12:g.170829514G>A	ESP,ExAC,TOPMed,gnomAD
rs1208917279	p.Leu63Pro	missense variant	-	NC_000002.12:g.170829517T>C	gnomAD
rs1215875151	p.Val64Met	missense variant	-	NC_000002.12:g.170829519G>A	TOPMed,gnomAD
rs1215875151	p.Val64Leu	missense variant	-	NC_000002.12:g.170829519G>C	TOPMed,gnomAD
rs1285353478	p.Val64Ala	missense variant	-	NC_000002.12:g.170829520T>C	gnomAD
rs1316488270	p.Ser65Asn	missense variant	-	NC_000002.12:g.170829523G>A	TOPMed
rs1219540340	p.Phe67Leu	missense variant	-	NC_000002.12:g.170829530C>G	TOPMed
rs112605975	p.Lys68Arg	missense variant	-	NC_000002.12:g.170829532A>G	ExAC,TOPMed,gnomAD
rs1184983581	p.Glu69Asp	missense variant	-	NC_000002.12:g.170829536G>C	TOPMed,gnomAD
rs1475821513	p.Arg70Lys	missense variant	-	NC_000002.12:g.170829538G>A	gnomAD
rs761555669	p.Arg70Trp	missense variant	-	NC_000002.12:g.170829537A>T	ExAC,gnomAD
rs1475821513	p.Arg70Thr	missense variant	-	NC_000002.12:g.170829538G>C	gnomAD
NCI-TCGA novel	p.Gln71Ter	stop gained	-	NC_000002.12:g.170829540C>T	NCI-TCGA
NCI-TCGA novel	p.Lys74Asn	missense variant	-	NC_000002.12:g.170829551G>T	NCI-TCGA
COSM1647100	p.Lys74Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829551G>C	NCI-TCGA Cosmic
rs1366823311	p.Asn75His	missense variant	-	NC_000002.12:g.170829552A>C	TOPMed,gnomAD
rs1399330650	p.Asn75Ser	missense variant	-	NC_000002.12:g.170829553A>G	TOPMed
rs764600514	p.Leu77Pro	missense variant	-	NC_000002.12:g.170829559T>C	ExAC,gnomAD
rs1171125027	p.Ser78Phe	missense variant	-	NC_000002.12:g.170829562C>T	TOPMed
NCI-TCGA novel	p.Asn81Ser	missense variant	-	NC_000002.12:g.170829571A>G	NCI-TCGA
rs762948682	p.Asn81Lys	missense variant	-	NC_000002.12:g.170829572C>G	ExAC,TOPMed,gnomAD
rs762948682	p.Asn81Lys	missense variant	-	NC_000002.12:g.170829572C>A	ExAC,TOPMed,gnomAD
rs1439422597	p.Ser82Gly	missense variant	-	NC_000002.12:g.170829573A>G	gnomAD
rs200808732	p.Asp83Asn	missense variant	-	NC_000002.12:g.170829576G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201750984	p.Asp83Glu	missense variant	-	NC_000002.12:g.170829578C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753959745	p.Arg84Trp	missense variant	-	NC_000002.12:g.170829579C>T	ExAC,TOPMed,gnomAD
rs200092679	p.Arg84Pro	missense variant	-	NC_000002.12:g.170829580G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200092679	p.Arg84Gln	missense variant	-	NC_000002.12:g.170829580G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778827123	p.Asp85Asn	missense variant	-	NC_000002.12:g.170829582G>A	ExAC,gnomAD
rs746017851	p.Arg87Cys	missense variant	-	NC_000002.12:g.170829588C>T	ExAC,TOPMed,gnomAD
rs201232271	p.Arg87His	missense variant	-	NC_000002.12:g.170829589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355418981	p.Phe88Leu	missense variant	-	NC_000002.12:g.170829591T>C	gnomAD
RCV000406269	p.Arg89Trp	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170829594C>T	ClinVar
rs150841255	p.Arg89Trp	missense variant	-	NC_000002.12:g.170829594C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150841255	p.Arg89Gly	missense variant	-	NC_000002.12:g.170829594C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201233553	p.Arg89Gln	missense variant	-	NC_000002.12:g.170829595G>A	ExAC,TOPMed,gnomAD
RCV000314483	p.Arg90Cys	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170829597C>T	ClinVar
rs373042715	p.Arg90Ser	missense variant	-	NC_000002.12:g.170829597C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373042715	p.Arg90Cys	missense variant	-	NC_000002.12:g.170829597C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372095902	p.Arg90His	missense variant	-	NC_000002.12:g.170829598G>A	ExAC,TOPMed,gnomAD
rs1463708224	p.Leu104Phe	missense variant	-	NC_000002.12:g.170830955C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro105Ser	missense variant	-	NC_000002.12:g.170830958C>T	NCI-TCGA
rs1330345105	p.Pro105Leu	missense variant	-	NC_000002.12:g.170830959C>T	gnomAD
rs191940314	p.Gly109Ser	missense variant	-	NC_000002.12:g.170830970G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1228823911	p.Gly109Asp	missense variant	-	NC_000002.12:g.170830971G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu110Lys	missense variant	-	NC_000002.12:g.170830973G>A	NCI-TCGA
rs1260039996	p.Gln112Glu	missense variant	-	NC_000002.12:g.170830979C>G	gnomAD
rs372972664	p.Val114Met	missense variant	-	NC_000002.12:g.170830985G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM70859	p.Gln115His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170830990A>T	NCI-TCGA Cosmic
rs895746380	p.Val121Ala	missense variant	-	NC_000002.12:g.170831007T>C	gnomAD
rs766422631	p.Asp122Asn	missense variant	-	NC_000002.12:g.170831009G>A	ExAC,gnomAD
COSM268398	p.Asp122Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831009G>T	NCI-TCGA Cosmic
rs1206791288	p.Ile123Val	missense variant	-	NC_000002.12:g.170831012A>G	TOPMed
rs751697200	p.Asn126Ser	missense variant	-	NC_000002.12:g.170831022A>G	ExAC,TOPMed,gnomAD
RCV000352921	p.Tyr127Phe	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170831025A>T	ClinVar
rs141004978	p.Tyr127Phe	missense variant	-	NC_000002.12:g.170831025A>T	ESP,ExAC,TOPMed,gnomAD
rs779472420	p.Arg129Ser	missense variant	-	NC_000002.12:g.170831030C>A	ExAC,TOPMed,gnomAD
rs748927904	p.Arg129Pro	missense variant	-	NC_000002.12:g.170831031G>C	ExAC,TOPMed,gnomAD
rs779472420	p.Arg129Gly	missense variant	-	NC_000002.12:g.170831030C>G	ExAC,TOPMed,gnomAD
rs779472420	p.Arg129Cys	missense variant	-	NC_000002.12:g.170831030C>T	ExAC,TOPMed,gnomAD
rs748927904	p.Arg129His	missense variant	-	NC_000002.12:g.170831031G>A	ExAC,TOPMed,gnomAD
rs1326457415	p.Thr131Ile	missense variant	-	NC_000002.12:g.170831037C>T	TOPMed
rs376982509	p.Phe132Tyr	missense variant	-	NC_000002.12:g.170831040T>A	ESP,ExAC,TOPMed,gnomAD
rs376982509	p.Phe132Ser	missense variant	-	NC_000002.12:g.170831040T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp133His	missense variant	-	NC_000002.12:g.170831042G>C	NCI-TCGA
rs771498866	p.Asp133Val	missense variant	-	NC_000002.12:g.170831043A>T	ExAC
rs150945113	p.Arg134Cys	missense variant	-	NC_000002.12:g.170831045C>T	ESP,ExAC,TOPMed,gnomAD
rs768394289	p.Arg134His	missense variant	-	NC_000002.12:g.170831046G>A	ExAC,TOPMed,gnomAD
rs1218015372	p.Ser135Pro	missense variant	-	NC_000002.12:g.170831048T>C	gnomAD
rs769110394	p.Val138Leu	missense variant	-	NC_000002.12:g.170831057G>T	-
rs1219702587	p.His142Asn	missense variant	-	NC_000002.12:g.170831069C>A	gnomAD
NCI-TCGA novel	p.His143Gln	missense variant	-	NC_000002.12:g.170831074C>G	NCI-TCGA
rs1217235033	p.Leu148Pro	missense variant	-	NC_000002.12:g.170831088T>C	TOPMed,gnomAD
rs1265179873	p.Met151Thr	missense variant	-	NC_000002.12:g.170831097T>C	gnomAD
rs367625270	p.Met151Ile	missense variant	-	NC_000002.12:g.170831098G>A	ESP,TOPMed
COSM4086712	p.Asn155Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831109A>C	NCI-TCGA Cosmic
COSM4086714	p.Leu156Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831111T>G	NCI-TCGA Cosmic
rs753205603	p.Leu158Val	missense variant	-	NC_000002.12:g.170831117C>G	ExAC,TOPMed,gnomAD
rs914667678	p.Asp160Gly	missense variant	-	NC_000002.12:g.170831124A>G	TOPMed
rs551258454	p.His161Tyr	missense variant	-	NC_000002.12:g.170831126C>T	1000Genomes
rs374413832	p.Pro162Leu	missense variant	-	NC_000002.12:g.170831130C>T	ESP,TOPMed
rs145603819	p.Pro162Ser	missense variant	-	NC_000002.12:g.170831129C>T	ESP,ExAC,TOPMed,gnomAD
rs374413832	p.Pro162His	missense variant	-	NC_000002.12:g.170831130C>A	ESP,TOPMed
rs145603819	p.Pro162Ala	missense variant	-	NC_000002.12:g.170831129C>G	ESP,ExAC,TOPMed,gnomAD
rs868362629	p.Glu163Lys	missense variant	-	NC_000002.12:g.170831132G>A	-
NCI-TCGA novel	p.Glu166Gln	missense variant	-	NC_000002.12:g.170831141G>C	NCI-TCGA
rs778652011	p.Thr175Ile	missense variant	-	NC_000002.12:g.170831169C>T	ExAC,gnomAD
COSM3569952	p.Leu176Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831171T>A	NCI-TCGA Cosmic
COSM3569954	p.Gly179Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831181G>C	NCI-TCGA Cosmic
rs141910612	p.Arg181His	missense variant	-	NC_000002.12:g.170831187G>A	ESP,ExAC,TOPMed,gnomAD
rs1271415571	p.Arg181Cys	missense variant	-	NC_000002.12:g.170831186C>T	TOPMed
rs111361241	p.Gly183Ser	missense variant	-	NC_000002.12:g.170831192G>A	-
rs1457914841	p.Arg186Leu	missense variant	-	NC_000002.12:g.170836802G>T	gnomAD
COSM1647098	p.Arg186Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170836802G>A	NCI-TCGA Cosmic
rs1206672606	p.Leu191Phe	missense variant	-	NC_000002.12:g.170836816C>T	TOPMed
NCI-TCGA novel	p.Ile197Ser	missense variant	-	NC_000002.12:g.170836835T>G	NCI-TCGA
rs1224781502	p.Trp204Arg	missense variant	-	NC_000002.12:g.170836855T>C	gnomAD
rs779581841	p.Leu205Val	missense variant	-	NC_000002.12:g.170836858C>G	ExAC,TOPMed,gnomAD
rs754891860	p.Thr208Met	missense variant	-	NC_000002.12:g.170836868C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala209Val	missense variant	-	NC_000002.12:g.170836871C>T	NCI-TCGA
NCI-TCGA novel	p.Ala209Thr	missense variant	-	NC_000002.12:g.170836870G>A	NCI-TCGA
rs1175389478	p.Met213Thr	missense variant	-	NC_000002.12:g.170836883T>C	gnomAD
rs756066322	p.Tyr216His	missense variant	-	NC_000002.12:g.170844052T>C	ExAC,gnomAD
rs756971067	p.Tyr216Ter	stop gained	-	NC_000002.12:g.170844054T>A	-
COSM1009464	p.Glu217Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844056A>G	NCI-TCGA Cosmic
COSM3895342	p.Glu217Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844055G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro220Leu	missense variant	-	NC_000002.12:g.170844065C>T	NCI-TCGA
rs1353823088	p.Pro220Thr	missense variant	-	NC_000002.12:g.170844064C>A	gnomAD
NCI-TCGA novel	p.Phe222Ser	missense variant	-	NC_000002.12:g.170844071T>C	NCI-TCGA
rs1287213373	p.Leu224Phe	missense variant	-	NC_000002.12:g.170844076C>T	gnomAD
COSM3990749	p.Met225Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844081G>T	NCI-TCGA Cosmic
COSM4086717	p.Met225Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844079A>G	NCI-TCGA Cosmic
rs1215136344	p.Gln227Lys	missense variant	-	NC_000002.12:g.170844085C>A	gnomAD
rs45566933	p.Ile228Leu	missense variant	-	NC_000002.12:g.170844088A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000299319	p.Ile228Leu	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170844088A>C	ClinVar
RCV000422631	p.Ile228Leu	missense variant	-	NC_000002.12:g.170844088A>C	ClinVar
rs753819814	p.Lys231Glu	missense variant	-	NC_000002.12:g.170844097A>G	ExAC,gnomAD
COSM6088378	p.Lys231Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844098A>T	NCI-TCGA Cosmic
COSM6154766	p.Met233Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844105G>C	NCI-TCGA Cosmic
rs756964109	p.Arg234Gly	missense variant	-	NC_000002.12:g.170844106A>G	ExAC,gnomAD
rs1162643446	p.Ile236Thr	missense variant	-	NC_000002.12:g.170844113T>C	gnomAD
rs548295575	p.Val237Ala	missense variant	-	NC_000002.12:g.170844116T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6154765	p.Gly238Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844119G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser240Leu	missense variant	-	NC_000002.12:g.170844125C>T	NCI-TCGA
rs1421414042	p.Ser240Pro	missense variant	-	NC_000002.12:g.170844124T>C	TOPMed,gnomAD
rs1281844740	p.Asp243Gly	missense variant	-	NC_000002.12:g.170844134A>G	TOPMed
rs755294507	p.Gly246Glu	missense variant	-	NC_000002.12:g.170844143G>A	ExAC,gnomAD
rs781413601	p.Ile247Val	missense variant	-	NC_000002.12:g.170844145A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser249Tyr	missense variant	-	NC_000002.12:g.170844152C>A	NCI-TCGA
NCI-TCGA novel	p.Pro250Leu	missense variant	-	NC_000002.12:g.170844155C>T	NCI-TCGA
rs749735425	p.Gly252Asp	missense variant	-	NC_000002.12:g.170845509G>A	ExAC,gnomAD
COSM3569958	p.Gly252Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845508G>T	NCI-TCGA Cosmic
COSM208043	p.Ala253Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845511G>A	NCI-TCGA Cosmic
rs772431542	p.Ile254Met	missense variant	-	NC_000002.12:g.170845516A>G	ExAC,gnomAD
COSM3569959	p.Ser255Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845518C>G	NCI-TCGA Cosmic
rs956461027	p.Met257Ile	missense variant	-	NC_000002.12:g.170845525G>A	TOPMed,gnomAD
rs956461027	p.Met257Ile	missense variant	-	NC_000002.12:g.170845525G>C	TOPMed,gnomAD
rs774967412	p.Tyr258Ter	stop gained	-	NC_000002.12:g.170845528C>G	ExAC,gnomAD
rs1433666654	p.Tyr258Cys	missense variant	-	NC_000002.12:g.170845527A>G	gnomAD
rs760398831	p.Ser259Gly	missense variant	-	NC_000002.12:g.170845529A>G	ExAC,TOPMed,gnomAD
rs763492866	p.Met261Val	missense variant	-	NC_000002.12:g.170845535A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala262Val	missense variant	-	NC_000002.12:g.170845539C>T	NCI-TCGA
NCI-TCGA novel	p.Arg264His	missense variant	-	NC_000002.12:g.170845545G>A	NCI-TCGA
rs761656256	p.Arg264Cys	missense variant	-	NC_000002.12:g.170845544C>T	ExAC,TOPMed,gnomAD
rs1463756751	p.Tyr265Cys	missense variant	-	NC_000002.12:g.170845548A>G	gnomAD
rs1295462042	p.Tyr265His	missense variant	-	NC_000002.12:g.170845547T>C	TOPMed
NCI-TCGA novel	p.Phe268Leu	missense variant	-	NC_000002.12:g.170845556T>C	NCI-TCGA
rs148633602	p.Val271Ile	missense variant	-	NC_000002.12:g.170845565G>A	ESP,ExAC,TOPMed,gnomAD
rs1219260245	p.Lys272Asn	missense variant	-	NC_000002.12:g.170845570G>C	gnomAD
rs752812272	p.Lys272Arg	missense variant	-	NC_000002.12:g.170845569A>G	ExAC,TOPMed,gnomAD
rs756406233	p.Thr273Ser	missense variant	-	NC_000002.12:g.170845571A>T	ExAC,gnomAD
rs777683337	p.Thr273Lys	missense variant	-	NC_000002.12:g.170845572C>A	ExAC,gnomAD
rs757342630	p.Lys274Asn	missense variant	-	NC_000002.12:g.170845576G>T	ExAC,gnomAD
rs1488718310	p.Met276Val	missense variant	-	NC_000002.12:g.170845580A>G	gnomAD
rs1328989300	p.Met276Thr	missense variant	-	NC_000002.12:g.170845581T>C	TOPMed
rs143319979	p.Ala277Val	missense variant	-	NC_000002.12:g.170845584C>T	ESP,ExAC,TOPMed,gnomAD
COSM1401228	p.Ala278Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845586G>A	NCI-TCGA Cosmic
rs1490174596	p.Pro280Leu	missense variant	-	NC_000002.12:g.170845593C>T	gnomAD
rs1475414595	p.Val283Ala	missense variant	-	NC_000002.12:g.170845602T>C	TOPMed
COSM1009465	p.Val283Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845602T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu284Ile	missense variant	-	NC_000002.12:g.170845604C>A	NCI-TCGA
rs780519382	p.Leu284Phe	missense variant	-	NC_000002.12:g.170845604C>T	ExAC,TOPMed,gnomAD
rs746613477	p.Leu284Pro	missense variant	-	NC_000002.12:g.170845605T>C	ExAC,TOPMed,gnomAD
rs1369401326	p.Phe285Leu	missense variant	-	NC_000002.12:g.170845607T>C	TOPMed,gnomAD
rs775995716	p.Thr286Ile	missense variant	-	NC_000002.12:g.170845611C>T	ExAC,gnomAD
COSM4825271	p.Glu288Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845616G>A	NCI-TCGA Cosmic
rs1181224255	p.Gln289Glu	missense variant	-	NC_000002.12:g.170845619C>G	TOPMed
RCV000685355	p.Gln289Ter	nonsense	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170845619C>T	ClinVar
NCI-TCGA novel	p.Ser290Cys	missense variant	-	NC_000002.12:g.170845706A>T	NCI-TCGA
rs1408663365	p.Tyr292Cys	missense variant	-	NC_000002.12:g.170845713A>G	TOPMed
NCI-TCGA novel	p.Lys295Asn	missense variant	-	NC_000002.12:g.170845723G>C	NCI-TCGA
rs747831626	p.Lys295Arg	missense variant	-	NC_000002.12:g.170845722A>G	ExAC,gnomAD
rs769377346	p.Ala297Val	missense variant	-	NC_000002.12:g.170845728C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala299GlyPheSerTerUnk	frameshift	-	NC_000002.12:g.170845729_170845730insG	NCI-TCGA
rs772896216	p.Ala299Thr	missense variant	-	NC_000002.12:g.170845733G>A	ExAC,gnomAD
rs762950875	p.Ala299Val	missense variant	-	NC_000002.12:g.170845734C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly304Arg	missense variant	-	NC_000002.12:g.170845748G>A	NCI-TCGA
rs770967698	p.Gly304Ala	missense variant	-	NC_000002.12:g.170845749G>C	ExAC,gnomAD
rs562343816	p.Asp306His	missense variant	-	NC_000002.12:g.170845754G>C	1000Genomes,ExAC,gnomAD
rs574505468	p.Ile311Leu	missense variant	-	NC_000002.12:g.170845769A>T	1000Genomes,ExAC,gnomAD
rs1242901742	p.Cys313Arg	missense variant	-	NC_000002.12:g.170845775T>C	gnomAD
NCI-TCGA novel	p.Glu315Lys	missense variant	-	NC_000002.12:g.170845781G>A	NCI-TCGA
rs767248551	p.Arg316Lys	missense variant	-	NC_000002.12:g.170845785G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile319Ter	frameshift	-	NC_000002.12:g.170846013A>-	NCI-TCGA
rs771879401	p.Ile320Thr	missense variant	-	NC_000002.12:g.170846020T>C	ExAC,TOPMed,gnomAD
rs771879401	p.Ile320Asn	missense variant	-	NC_000002.12:g.170846020T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro321Ser	missense variant	-	NC_000002.12:g.170846022C>T	NCI-TCGA
rs775306074	p.Pro321Leu	missense variant	-	NC_000002.12:g.170846023C>T	ExAC,gnomAD
rs1377219992	p.Ala322Gly	missense variant	-	NC_000002.12:g.170846026C>G	TOPMed
rs1348687911	p.Asp323Asn	missense variant	-	NC_000002.12:g.170846028G>A	gnomAD
rs762021043	p.Phe324Cys	missense variant	-	NC_000002.12:g.170846032T>G	ExAC,gnomAD
COSM1305842	p.Glu325Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170846034G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala326Ser	missense variant	-	NC_000002.12:g.170846037G>T	NCI-TCGA
NCI-TCGA novel	p.Leu329Phe	missense variant	-	NC_000002.12:g.170846046C>T	NCI-TCGA
rs1369644885	p.Leu329Ile	missense variant	-	NC_000002.12:g.170846046C>A	gnomAD
rs1313496161	p.Glu330Gly	missense variant	-	NC_000002.12:g.170846050A>G	TOPMed
rs374697614	p.Lys332Arg	missense variant	-	NC_000002.12:g.170846056A>G	ESP,ExAC,TOPMed,gnomAD
rs567986891	p.Gln333Glu	missense variant	-	NC_000002.12:g.170846058C>G	1000Genomes,TOPMed,gnomAD
rs773440295	p.Lys334Arg	missense variant	-	NC_000002.12:g.170846062A>G	ExAC,gnomAD
COSM4086718	p.Lys334Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170846063G>T	NCI-TCGA Cosmic
rs1222483064	p.Gly335Val	missense variant	-	NC_000002.12:g.170847677G>T	gnomAD
COSM3569962	p.Gly335Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170847677G>A	NCI-TCGA Cosmic
rs144099065	p.Asn342Ser	missense variant	-	NC_000002.12:g.170847698A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr347Ala	missense variant	-	NC_000002.12:g.170847712A>G	NCI-TCGA
rs749452013	p.Thr347Met	missense variant	-	NC_000002.12:g.170847713C>T	TOPMed,gnomAD
rs1439856921	p.Asp354Asn	missense variant	-	NC_000002.12:g.170847733G>A	TOPMed
NCI-TCGA novel	p.Pro355Ser	missense variant	-	NC_000002.12:g.170847736C>T	NCI-TCGA
NCI-TCGA novel	p.Gln357Lys	missense variant	-	NC_000002.12:g.170847742C>A	NCI-TCGA
rs201591160	p.Gln357Arg	missense variant	-	NC_000002.12:g.170847743A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu358Lys	missense variant	-	NC_000002.12:g.170847745G>A	NCI-TCGA
rs1176458069	p.Ile359Thr	missense variant	-	NC_000002.12:g.170847749T>C	TOPMed
rs746752116	p.Asp361Val	missense variant	-	NC_000002.12:g.170847755A>T	ExAC,gnomAD
rs768449364	p.Ile362Thr	missense variant	-	NC_000002.12:g.170847758T>C	ExAC,gnomAD
rs559356309	p.Tyr366Ter	stop gained	-	NC_000002.12:g.170847771T>A	1000Genomes,ExAC,gnomAD
rs902885771	p.Asp373Asn	missense variant	-	NC_000002.12:g.170847790G>A	-
rs747515399	p.Ala375Ser	missense variant	-	NC_000002.12:g.170849289G>T	ExAC,gnomAD
rs1450165631	p.Trp376Cys	missense variant	-	NC_000002.12:g.170849294G>T	TOPMed
COSM3569963	p.Trp376Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.170849294G>A	NCI-TCGA Cosmic
COSM3569964	p.Gly377Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170849295G>A	NCI-TCGA Cosmic
COSM2153550	p.Leu381Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170849307C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met382CysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.170849310A>-	NCI-TCGA
rs762020151	p.Met382Val	missense variant	-	NC_000002.12:g.170849310A>G	ExAC,gnomAD
rs765668781	p.His386Tyr	missense variant	-	NC_000002.12:g.170849322C>T	ExAC,TOPMed,gnomAD
rs772695477	p.His386Pro	missense variant	-	NC_000002.12:g.170849323A>C	ExAC,gnomAD
rs765841229	p.Arg387His	missense variant	-	NC_000002.12:g.170849326G>A	ExAC,gnomAD
rs762639802	p.Arg387Cys	missense variant	-	NC_000002.12:g.170849325C>T	ExAC,TOPMed,gnomAD
rs1290731220	p.Asn391Tyr	missense variant	-	NC_000002.12:g.170849337A>T	gnomAD
rs767301761	p.Ile393Val	missense variant	-	NC_000002.12:g.170849343A>G	ExAC,TOPMed,gnomAD
rs374121915	p.Asn397Ser	missense variant	-	NC_000002.12:g.170852719A>G	ESP,ExAC,TOPMed,gnomAD
rs145209240	p.Pro403Leu	missense variant	-	NC_000002.12:g.170852737C>T	ESP,ExAC,TOPMed,gnomAD
COSM269219	p.Pro403Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852736C>A	NCI-TCGA Cosmic
COSM441493	p.His404Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852739C>T	NCI-TCGA Cosmic
COSM418482	p.Lys405Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852744G>C	NCI-TCGA Cosmic
rs1295253118	p.Met406Ile	missense variant	-	NC_000002.12:g.170852747G>C	TOPMed
rs1177284797	p.Met407Thr	missense variant	-	NC_000002.12:g.170852749T>C	TOPMed,gnomAD
rs754960530	p.Met407Ile	missense variant	-	NC_000002.12:g.170852750G>A	ExAC,TOPMed,gnomAD
rs770401754	p.Val409Met	missense variant	-	NC_000002.12:g.170852754G>A	ExAC,TOPMed,gnomAD
rs749599647	p.Ile416Phe	missense variant	-	NC_000002.12:g.170852775A>T	ExAC,TOPMed,gnomAD
rs749599647	p.Ile416Val	missense variant	-	NC_000002.12:g.170852775A>G	ExAC,TOPMed,gnomAD
RCV000326022	p.Val418Phe	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170852781G>T	ClinVar
RCV000515943	p.Val418Phe	missense variant	Hereditary spastic paraplegia	NC_000002.12:g.170852781G>T	ClinVar
rs143058194	p.Val418Phe	missense variant	-	NC_000002.12:g.170852781G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143058194	p.Val418Ile	missense variant	-	NC_000002.12:g.170852781G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325203081	p.Glu420Gly	missense variant	-	NC_000002.12:g.170852788A>G	gnomAD
rs771451673	p.Glu420Asp	missense variant	-	NC_000002.12:g.170852789A>T	ExAC,gnomAD
rs965039416	p.Gly422Asp	missense variant	-	NC_000002.12:g.170853874G>A	TOPMed,gnomAD
rs183828556	p.Cys427Gly	missense variant	-	NC_000002.12:g.170853888T>G	1000Genomes,ExAC,gnomAD
COSM4168844	p.Cys427Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170853889G>A	NCI-TCGA Cosmic
rs1380124729	p.Gln429His	missense variant	-	NC_000002.12:g.170853896G>C	TOPMed
rs1312555869	p.Met430Thr	missense variant	-	NC_000002.12:g.170853898T>C	TOPMed
rs1417206224	p.Met430Leu	missense variant	-	NC_000002.12:g.170853897A>C	gnomAD
rs1417206224	p.Met430Val	missense variant	-	NC_000002.12:g.170853897A>G	gnomAD
rs761887714	p.Met430Ile	missense variant	-	NC_000002.12:g.170853899G>A	ExAC,TOPMed,gnomAD
RCV000382865	p.Met430Ile	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170853899G>A	ClinVar
rs1164067313	p.Ala432Thr	missense variant	-	NC_000002.12:g.170853903G>A	TOPMed,gnomAD
COSM1305843	p.Gly433Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170853907G>C	NCI-TCGA Cosmic
rs1049734	p.Tyr434Ter	stop gained	-	NC_000002.12:g.170853911C>A	ExAC,gnomAD
RCV000704234	p.Ser445Phe	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170853943C>T	ClinVar
rs1169710215	p.Ser445Phe	missense variant	-	NC_000002.12:g.170853943C>T	TOPMed
rs1432510263	p.Asp447Asn	missense variant	-	NC_000002.12:g.170853948G>A	gnomAD
rs1461933909	p.Thr448Ser	missense variant	-	NC_000002.12:g.170853952C>G	TOPMed
rs1361772083	p.Gly449Glu	missense variant	-	NC_000002.12:g.170853955G>A	gnomAD
rs1247194476	p.Ile453Thr	missense variant	-	NC_000002.12:g.170853967T>C	gnomAD
rs756181349	p.Cys455Tyr	missense variant	-	NC_000002.12:g.170853973G>A	ExAC
rs1190356035	p.Arg457His	missense variant	-	NC_000002.12:g.170853979G>A	TOPMed
rs199758288	p.Val459Met	missense variant	-	NC_000002.12:g.170853984G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199758288	p.Val459Leu	missense variant	-	NC_000002.12:g.170853984G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe464Leu	missense variant	-	NC_000002.12:g.170854001C>A	NCI-TCGA
NCI-TCGA novel	p.Ala470Thr	missense variant	-	NC_000002.12:g.170854017G>A	NCI-TCGA
rs1384923709	p.Thr473Ala	missense variant	-	NC_000002.12:g.170857021A>G	gnomAD
rs769403	p.Val474Gly	missense variant	-	NC_000002.12:g.170857025T>G	UniProt,dbSNP
VAR_011882	p.Val474Gly	missense variant	-	NC_000002.12:g.170857025T>G	UniProt
rs769403	p.Val474Gly	missense variant	-	NC_000002.12:g.170857025T>G	-
rs1222155975	p.Phe476Leu	missense variant	-	NC_000002.12:g.170857030T>C	gnomAD
rs1035541829	p.Asn478Lys	missense variant	-	NC_000002.12:g.170857038C>G	TOPMed
rs766120758	p.Ile480Thr	missense variant	-	NC_000002.12:g.170857043T>C	ExAC,gnomAD
rs1256628895	p.Asn481Asp	missense variant	-	NC_000002.12:g.170857045A>G	TOPMed
rs1204026449	p.Cys483Tyr	missense variant	-	NC_000002.12:g.170857052G>A	gnomAD
rs769392	p.Leu484Met	missense variant	-	NC_000002.12:g.170857054C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu485Lys	missense variant	-	NC_000002.12:g.170857057G>A	NCI-TCGA
rs753976834	p.Leu486Val	missense variant	-	NC_000002.12:g.170857060C>G	ExAC,gnomAD
rs1340323099	p.Ala487Asp	missense variant	-	NC_000002.12:g.170857064C>A	TOPMed
COSM1009467	p.Leu490Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170857072C>A	NCI-TCGA Cosmic
rs765665349	p.Glu498Lys	missense variant	-	NC_000002.12:g.170857096G>A	ExAC,gnomAD
COSM2893115	p.Glu498Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170857097A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu499Ter	stop gained	-	NC_000002.12:g.170857099G>T	NCI-TCGA
NCI-TCGA novel	p.Glu499Lys	missense variant	-	NC_000002.12:g.170857099G>A	NCI-TCGA
NCI-TCGA novel	p.Glu501GlnPheSerTerUnk	frameshift	-	NC_000002.12:g.170857102_170857112TTTGAGATGGT>-	NCI-TCGA
rs750922452	p.Glu501Gly	missense variant	-	NC_000002.12:g.170857106A>G	ExAC,gnomAD
rs1287408308	p.Met502Ile	missense variant	-	NC_000002.12:g.170857110G>A	gnomAD
rs1410713993	p.Asn505Ile	missense variant	-	NC_000002.12:g.170857118A>T	gnomAD
rs1410713993	p.Asn505Ser	missense variant	-	NC_000002.12:g.170857118A>G	gnomAD
rs780328766	p.Glu507Lys	missense variant	-	NC_000002.12:g.170857123G>A	ExAC,TOPMed,gnomAD
rs1346304196	p.Pro508Thr	missense variant	-	NC_000002.12:g.170858804C>A	gnomAD
rs1383011891	p.Glu509Gly	missense variant	-	NC_000002.12:g.170858808A>G	TOPMed
rs1381723796	p.Glu509Lys	missense variant	-	NC_000002.12:g.170858807G>A	TOPMed
COSM6088377	p.Glu509Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858807G>C	NCI-TCGA Cosmic
rs1174554168	p.His510Tyr	missense variant	-	NC_000002.12:g.170858810C>T	TOPMed
rs761839443	p.Thr511Lys	missense variant	-	NC_000002.12:g.170858814C>A	ExAC,gnomAD
rs1281548620	p.Asn512Asp	missense variant	-	NC_000002.12:g.170858816A>G	gnomAD
rs750917624	p.Val513Ile	missense variant	-	NC_000002.12:g.170858819G>A	ExAC,TOPMed,gnomAD
rs750917624	p.Val513Leu	missense variant	-	NC_000002.12:g.170858819G>C	ExAC,TOPMed,gnomAD
rs544356365	p.Cys514Phe	missense variant	-	NC_000002.12:g.170858823G>T	1000Genomes,ExAC,gnomAD
rs1203023837	p.Phe515Val	missense variant	-	NC_000002.12:g.170858825T>G	TOPMed,gnomAD
COSM1401230	p.Trp516GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.170858824T>-	NCI-TCGA Cosmic
COSM3569966	p.Pro519Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858837C>T	NCI-TCGA Cosmic
COSM6088376	p.Arg523Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858849A>T	NCI-TCGA Cosmic
rs1259121135	p.Gly524Asp	missense variant	-	NC_000002.12:g.170858853G>A	TOPMed
rs1194319367	p.Pro526Leu	missense variant	-	NC_000002.12:g.170858859C>T	gnomAD
rs755637844	p.Pro526Thr	missense variant	-	NC_000002.12:g.170858858C>A	ExAC,TOPMed,gnomAD
rs777199387	p.Ser528Asn	missense variant	-	NC_000002.12:g.170858865G>A	ExAC,gnomAD
rs749219007	p.Pro529Ser	missense variant	-	NC_000002.12:g.170858867C>T	ExAC,gnomAD
rs770840674	p.Pro529Leu	missense variant	-	NC_000002.12:g.170858868C>T	ExAC,TOPMed,gnomAD
rs745595462	p.Arg531Ter	stop gained	-	NC_000002.12:g.170858873C>T	ExAC,gnomAD
rs771882638	p.Arg531Gln	missense variant	-	NC_000002.12:g.170858874G>A	ExAC
RCV000385862	p.Arg532Gln	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170858877G>A	ClinVar
rs769402	p.Arg532Gln	missense variant	-	NC_000002.12:g.170858877G>A	UniProt,dbSNP
VAR_011883	p.Arg532Gln	missense variant	-	NC_000002.12:g.170858877G>A	UniProt
rs769402	p.Arg532Gln	missense variant	-	NC_000002.12:g.170858877G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776783455	p.Arg532Trp	missense variant	-	NC_000002.12:g.170858876C>T	ExAC,TOPMed,gnomAD
rs769402	p.Arg532Pro	missense variant	-	NC_000002.12:g.170858877G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1226713915	p.Lys534Glu	missense variant	-	NC_000002.12:g.170858882A>G	TOPMed
NCI-TCGA novel	p.His536Arg	missense variant	-	NC_000002.12:g.170858889A>G	NCI-TCGA
rs1324739460	p.Lys537Glu	missense variant	-	NC_000002.12:g.170858891A>G	TOPMed
rs779861405	p.Val538Met	missense variant	-	NC_000002.12:g.170859709G>A	ExAC,TOPMed,gnomAD
rs1157032131	p.Lys541Glu	missense variant	-	NC_000002.12:g.170859718A>G	gnomAD
NCI-TCGA novel	p.Ile542Thr	missense variant	-	NC_000002.12:g.170859722T>C	NCI-TCGA
rs1253088196	p.Lys543Arg	missense variant	-	NC_000002.12:g.170859725A>G	TOPMed
rs1248157209	p.Ala544Val	missense variant	-	NC_000002.12:g.170859728C>T	TOPMed,gnomAD
COSM717759	p.Ala544Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859727G>A	NCI-TCGA Cosmic
COSM1009469	p.Ala544Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859728C>G	NCI-TCGA Cosmic
rs566385980	p.Leu545Val	missense variant	-	NC_000002.12:g.170859730C>G	1000Genomes,ExAC,gnomAD
rs773501119	p.Met547Ile	missense variant	-	NC_000002.12:g.170859738G>A	ExAC,gnomAD
rs1239153271	p.Ser549Leu	missense variant	-	NC_000002.12:g.170859743C>T	gnomAD
rs762878619	p.Thr551Met	missense variant	-	NC_000002.12:g.170859749C>T	ExAC,gnomAD
rs1208461982	p.Thr552Ile	missense variant	-	NC_000002.12:g.170859752C>T	gnomAD
rs1202350146	p.Met553Ile	missense variant	-	NC_000002.12:g.170859756G>A	TOPMed
rs771076223	p.Val554Ala	missense variant	-	NC_000002.12:g.170859758T>C	ExAC,gnomAD
RCV000625924	p.Pro558Ser	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170859769C>T	ClinVar
rs774953382	p.Pro558Ser	missense variant	-	NC_000002.12:g.170859769C>T	ExAC,TOPMed,gnomAD
rs774953382	p.Pro558Ala	missense variant	-	NC_000002.12:g.170859769C>G	ExAC,TOPMed,gnomAD
rs1180557916	p.Gly560Arg	missense variant	-	NC_000002.12:g.170859775G>A	TOPMed,gnomAD
rs892617163	p.Gly560Val	missense variant	-	NC_000002.12:g.170859776G>T	TOPMed
rs140912905	p.Ala563Val	missense variant	-	NC_000002.12:g.170859785C>T	ESP,ExAC,TOPMed,gnomAD
rs1161418050	p.Asn564Ser	missense variant	-	NC_000002.12:g.170859788A>G	gnomAD
rs1049736	p.Phe565Leu	missense variant	-	NC_000002.12:g.170859792C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe566Tyr	missense variant	-	NC_000002.12:g.170859794T>A	NCI-TCGA
rs763585990	p.Arg567Trp	missense variant	-	NC_000002.12:g.170859796C>T	ExAC,TOPMed,gnomAD
rs753558119	p.Arg567Gln	missense variant	-	NC_000002.12:g.170859797G>A	ExAC,gnomAD
rs753558119	p.Arg567Pro	missense variant	-	NC_000002.12:g.170859797G>C	ExAC,gnomAD
rs540956386	p.Met568Ile	missense variant	-	NC_000002.12:g.170859801G>T	gnomAD
rs375530557	p.Met568Leu	missense variant	-	NC_000002.12:g.170859799A>T	ESP,ExAC,TOPMed,gnomAD
rs764774577	p.Ile570Phe	missense variant	-	NC_000002.12:g.170859805A>T	ExAC,gnomAD
rs750327304	p.Ser571Pro	missense variant	-	NC_000002.12:g.170859808T>C	ExAC
rs199613243	p.Asn572Thr	missense variant	-	NC_000002.12:g.170859812A>C	ExAC,gnomAD
rs527691350	p.Ala575Thr	missense variant	-	NC_000002.12:g.170859820G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1326032504	p.Ile580Thr	missense variant	-	NC_000002.12:g.170859836T>C	gnomAD
rs1208499139	p.Leu583Phe	missense variant	-	NC_000002.12:g.170859844C>T	gnomAD
rs562769154	p.Ile584Ser	missense variant	-	NC_000002.12:g.170859848T>G	ExAC,TOPMed
rs1255882684	p.Ile584Val	missense variant	-	NC_000002.12:g.170859847A>G	gnomAD
rs562769154	p.Ile584Thr	missense variant	-	NC_000002.12:g.170859848T>C	ExAC,TOPMed
rs1249788198	p.Ile587Met	missense variant	-	NC_000002.12:g.170859858A>G	TOPMed,gnomAD
rs770895870	p.Ile587Leu	missense variant	-	NC_000002.12:g.170859856A>T	ExAC,TOPMed,gnomAD
rs986095646	p.Ile587Thr	missense variant	-	NC_000002.12:g.170859857T>C	TOPMed
COSM3569968	p.Arg589Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859863G>A	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;PSYGENET
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0003477	Separation Anxiety Disorder	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE;CTD_human
C0004364	Autoimmune Diseases	group	BEFREE
C0004936	Mental disorders	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;CTD_human;PSYGENET
C0005587	Depression, Bipolar	disease	CTD_human
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007112	Adenocarcinoma of prostate	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007758	Cerebellar Ataxia	phenotype	LHGDN
C0007789	Cerebral Palsy	disease	BEFREE;HPO
C0008924	Cleft upper lip	disease	LHGDN
C0008925	Cleft Palate	disease	LHGDN
C0009171	Cocaine Abuse	disease	CTD_human
C0009241	Cognition Disorders	group	BEFREE
C0009917	Contracture	group	HPO
C0009918	Contracture of joint	phenotype	HPO
C0010068	Coronary heart disease	disease	BEFREE
C0010709	Cyst	phenotype	BEFREE
C0011570	Mental Depression	disease	BEFREE;PSYGENET
C0011574	Involutional Depression	disease	CTD_human
C0011581	Depressive disorder	disease	BEFREE;PSYGENET
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE;RGD
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013386	Dyskinesia, Drug-Induced	disease	CTD_human
C0014378	Enterovirus Infections	group	BEFREE
C0014544	Epilepsy	disease	BEFREE;HPO;LHGDN
C0015468	Facial Pain	phenotype	BEFREE
C0017154	Gastritis, Atrophic	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018213	Graves Disease	disease	BEFREE
C0019348	Herpes Simplex Infections	group	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020456	Hyperglycemia	disease	BEFREE
C0020514	Hyperprolactinemia	disease	CTD_human
C0021294	Infant, Premature	phenotype	BEFREE
C0021670	insulinoma	disease	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0023882	Little's Disease	disease	HPO
C0024713	Manic Disorder	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0026769	Multiple Sclerosis	disease	LHGDN
C0027765	nervous system disorder	group	BEFREE
C0027796	Neuralgia	phenotype	BEFREE
C0027877	Neuronal Ceroid-Lipofuscinoses	disease	LHGDN
C0028754	Obesity	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030319	Panic Disorder	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE;LHGDN
C0033975	Psychotic Disorders	group	BEFREE
C0034935	Babinski Reflex	phenotype	HPO
C0036337	Schizoaffective Disorder	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;CTD_human;LHGDN
C0036346	Schizophrenia, Childhood	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE;HPO
C0037061	Siderosis	disease	BEFREE
C0037773	Spastic Paraplegia, Hereditary	disease	GENOMICS_ENGLAND
C0037932	Curvature of spine	phenotype	HPO
C0038273	Stereotypic Movement Disorder	phenotype	BEFREE
C0038443	Stress, Psychological	disease	BEFREE
C0040128	Thyroid Diseases	group	BEFREE
C0040822	Tremor	phenotype	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C0085292	Stiff-Person Syndrome	disease	BEFREE;LHGDN
C0151889	Hyperreflexia	phenotype	HPO
C0205734	Diabetes, Autoimmune	disease	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE
C0233794	Memory impairment	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236663	Alcohol withdrawal syndrome	disease	BEFREE
C0236736	Cocaine-Related Disorders	group	CTD_human
C0270549	Generalized Anxiety Disorder	disease	BEFREE
C0271650	Impaired glucose tolerance	phenotype	BEFREE
C0278701	Gastric Adenocarcinoma	disease	BEFREE
C0333068	Flexion contracture	phenotype	HPO
C0338656	Impaired cognition	disease	BEFREE
C0338831	Manic	disease	CTD_human
C0342276	Maturity onset diabetes mellitus in young	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349204	Nonorganic psychosis	disease	BEFREE
C0349231	Phobic anxiety disorder	disease	BEFREE
C0362046	Prediabetes syndrome	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426970	Spastic Quadriplegia	disease	HPO
C0442874	Neuropathy	group	BEFREE
C0497406	Overweight	phenotype	BEFREE
C0524851	Neurodegenerative Disorders	group	BEFREE
C0524910	Hepatitis C, Chronic	disease	BEFREE
C0525045	Mood Disorders	group	BEFREE;LHGDN;PSYGENET
C0557874	Global developmental delay	disease	HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0600427	Cocaine Dependence	disease	CTD_human
C0700208	Acquired scoliosis	phenotype	HPO
C0740391	Middle Cerebral Artery Occlusion	phenotype	BEFREE
C0751088	Dyskinesia, Medication-Induced	disease	CTD_human
C0917816	Mental deficiency	disease	HPO
C1258666	Myxoid cyst	disease	BEFREE
C1269683	Major Depressive Disorder	disease	BEFREE;CTD_human;PSYGENET
C1306459	Primary malignant neoplasm	group	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1571983	Involutional paraphrenia	disease	CTD_human
C1571984	Psychosis, Involutional	disease	CTD_human
C1739108	Latent Autoimmune Diabetes in Adults	disease	BEFREE
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1843367	Poor school performance	phenotype	HPO
C1850530	Flexion contractures of joints	phenotype	HPO
C1852197	MAJOR AFFECTIVE DISORDER 1	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1868649	PANIC DISORDER 1	disease	BEFREE
C1960272	Latent autoimmune diabetes mellitus in adult	disease	BEFREE
C1970943	MAJOR AFFECTIVE DISORDER 4	disease	BEFREE
C1970945	MAJOR AFFECTIVE DISORDER 6	disease	BEFREE
C2700438	MAJOR AFFECTIVE DISORDER 7	disease	BEFREE
C2700439	MAJOR AFFECTIVE DISORDER 8	disease	BEFREE
C2700440	MAJOR AFFECTIVE DISORDER 9	disease	BEFREE
C2751938	Cerebral Palsy, Spastic Quadriplegic, 1	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C2936719	Mechanical Allodynia	phenotype	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3826457	Diabetes in children	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004351	glutamate decarboxylase activity	IDA
GO:0005515	protein binding	IPI
GO:0016595	glutamate binding	IEA
GO:0030170	pyridoxal phosphate binding	IEA
GO:0044877	protein-containing complex binding	IEA
GO:0047485	protein N-terminus binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006538	glutamate catabolic process	TAS
GO:0006540	glutamate decarboxylation to succinate	TAS
GO:0007268	chemical synaptic transmission	TAS
GO:0007269	neurotransmitter secretion	TAS
GO:0009449	gamma-aminobutyric acid biosynthetic process	IEA
GO:0018352	protein-pyridoxal-5-phosphate linkage	TAS
GO:0035176	social behavior	IEA
GO:0035641	locomotory exploration behavior	IEA
GO:0042493	response to drug	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005938	cell cortex	IEA
GO:0012506	vesicle membrane	NAS
GO:0043679	axon terminus	IEA
GO:0048786	presynaptic active zone	IEA
GO:0060077	inhibitory synapse	IEA
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112310	Neurotransmitter release cycle	TAS
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	TAS
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-888568	GABA synthesis	TAS
R-HSA-888590	GABA synthesis, release, reuptake and degradation	TAS
R-HSA-8986944	Transcriptional Regulation by MECP2	IEA
R-HSA-9022927	MECP2 regulates transcription of genes involved in GABA signaling	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of GAD1 mRNA	15363887
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of GAD1 protein	15882945
C582212	1NMPP1 compound	[NTRK2 protein mutant form results in increased susceptibility to 1NMPP1 compound] which results in decreased expression of GAD1 mRNA	27417517
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in increased expression of GAD1 mRNA	19095052
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of GAD1 mRNA	27291303
D015647	2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine	2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine results in increased expression of GAD1 mRNA	14622157
C013186	2,3-pentanedione	2,3-pentanedione results in decreased expression of GAD1 mRNA	25710175
C411827	2,5-dihydro-2,4,5-trimethylthiazoline	GAD1 affects the reaction [2,5-dihydro-2,4,5-trimethylthiazoline results in increased secretion of Corticosterone]	21219938
C012587	3,5,6-trichloro-2-pyridinol	3,5,6-trichloro-2-pyridinol results in decreased activity of GAD1 protein	15541749
C010835	3-acetylpyridine	3-acetylpyridine results in increased expression of GAD1 mRNA	8774452
C010835	3-acetylpyridine	Amphetamine inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]	8774452
C010835	3-acetylpyridine	Clenbuterol inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]	8774452
C010835	3-acetylpyridine	Propranolol inhibits the reaction [Amphetamine inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
C010835	3-acetylpyridine	Propranolol inhibits the reaction [Clenbuterol inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
D015097	3-Mercaptopropionic Acid	3-Mercaptopropionic Acid results in decreased activity of GAD1 protein	4154755
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C024836	4-nitrophenol	4-nitrophenol results in decreased activity of GAD1 protein	15541749
C121465	6-methyl-2-(phenylethynyl)pyridine	6-methyl-2-(phenylethynyl)pyridine inhibits the reaction [Levodopa promotes the reaction [Oxidopamine results in increased expression of GAD1 mRNA]]	19660528
C496492	abrine	abrine results in increased expression of GAD1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of GAD1 mRNA	17562736
D019342	Acetic Acid	Acetic Acid results in increased expression of GAD1 mRNA	17065238
C056165	acetovanillone	acetovanillone inhibits the reaction [Ketamine results in decreased expression of GAD1 protein]	18063801
D000447	Aldehydes	Aldehydes results in increased expression of GAD1 mRNA	25014914
C069206	alpha helical corticotropin-releasing hormone	alpha helical corticotropin-releasing hormone results in increased expression of GAD1 protein	15486230
D000077410	Aluminum Chloride	Aluminum Chloride results in increased activity of GAD1 protein	11696403
D000640	Amitrole	Amitrole promotes the reaction [Sodium Chloride, Dietary results in decreased expression of GAD1 protein]	25891026
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GAD1 mRNA	16483693
D000661	Amphetamine	Amphetamine affects the expression of GAD1 protein	19059431
D000661	Amphetamine	Amphetamine results in increased expression of GAD1 mRNA	23660488
D000661	Amphetamine	Amphetamine inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]	8774452
D000661	Amphetamine	Amphetamine results in increased expression of GAD1 mRNA	18312583
D000661	Amphetamine	Amphetamine results in increased expression of GAD1 protein	14725721
D000661	Amphetamine	Propranolol inhibits the reaction [Amphetamine inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
D014150	Antipsychotic Agents	Antipsychotic Agents results in increased expression of GAD1 mRNA	18923069
C027423	aroclor 1242	[aroclor 1242 co-treated with aroclor 1248 co-treated with Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1260] results in decreased expression of GAD1 protein	17324953
C028617	aroclor 1248	[aroclor 1242 co-treated with aroclor 1248 co-treated with Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1260] results in decreased expression of GAD1 protein	17324953
C026987	aroclor 1260	[aroclor 1242 co-treated with aroclor 1248 co-treated with Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1260] results in decreased expression of GAD1 protein	17324953
D001152	Arsenicals	Arsenicals results in decreased methylation of GAD1 promoter	23315758
D001280	Atrazine	Atrazine results in decreased expression of GAD1 mRNA	25929836
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of GAD1 mRNA	29950665
C487081	belinostat	belinostat results in increased expression of GAD1 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GAD1 mRNA	20106945; 21632981; 21802500; 21871943; 22316170;
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Oxygen deficiency results in decreased expression of GAD1 protein]	29107683
C006780	bisphenol A	bisphenol A affects the expression of GAD1 mRNA	25181051; 26950200;
C006780	bisphenol A	bisphenol A results in decreased expression of GAD1 mRNA	18180321; 23791455;
C006780	bisphenol A	bisphenol A results in increased methylation of GAD1 gene	28505145
C006780	bisphenol A	Decitabine inhibits the reaction [bisphenol A results in decreased expression of GAD1 mRNA]	23791455
C018475	butyraldehyde	butyraldehyde results in increased expression of GAD1 mRNA	26079696
D002087	Butyrates	GAD1 protein results in decreased susceptibility to Butyrates	15369822
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of GAD1 mRNA	12160620
D002220	Carbamazepine	Carbamazepine affects the expression of GAD1 mRNA	25979313
C070295	catalase-polyethylene glycol	catalase-polyethylene glycol inhibits the reaction [Sodium Chloride, Dietary results in decreased expression of GAD1 protein]	25891026
D020111	Chlorodiphenyl (54% Chlorine)	[aroclor 1242 co-treated with aroclor 1248 co-treated with Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1260] results in decreased expression of GAD1 protein	17324953
D002746	Chlorpromazine	Chlorpromazine results in decreased methylation of GAD1 promoter	19110320
D002746	Chlorpromazine	Valproic Acid promotes the reaction [Chlorpromazine results in decreased methylation of GAD1 promoter]	19110320
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of GAD1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of GAD1 mRNA	27392435
D002976	Clenbuterol	Clenbuterol inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]	8774452
D002976	Clenbuterol	Clenbuterol inhibits the reaction [Reserpine results in increased expression of GAD1 mRNA]	8774452
D002976	Clenbuterol	Propranolol inhibits the reaction [Clenbuterol inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
D003024	Clozapine	Clozapine results in increased expression of GAD1 mRNA	17942719
D003024	Clozapine	Clozapine promotes the reaction [KMT2A protein binds to GAD1 promoter]	17942719
D003024	Clozapine	Clozapine results in decreased methylation of GAD1 promoter	18757738
D003024	Clozapine	Valproic Acid promotes the reaction [Clozapine results in decreased methylation of GAD1 promoter]	18757738
D003024	Clozapine	Clozapine results in increased expression of GAD1 mRNA	12887421; 15061247; 18923069;
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of GAD1 mRNA	22941251
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of GAD1 protein	29107683
D003042	Cocaine	Cocaine results in decreased expression of GAD1 mRNA	12629581
D003042	Cocaine	Cocaine results in increased expression of GAD1 protein	15295023; 18611417;
D003345	Corticosterone	GAD1 affects the reaction [2,5-dihydro-2,4,5-trimethylthiazoline results in increased secretion of Corticosterone]	21219938
D016578	Crack Cocaine	Crack Cocaine results in increased expression of GAD1 mRNA	12629581
C029892	cupric chloride	cupric chloride results in decreased expression of GAD1 mRNA	24650576
D003471	Cuprizone	Cuprizone results in increased expression of GAD1 mRNA	26577399
D003474	Curcumin	Curcumin inhibits the reaction [Streptozocin results in decreased expression of GAD1 mRNA]	23267840
D016572	Cyclosporine	Cyclosporine results in decreased expression of GAD1 mRNA	27989131
C017160	cypermethrin	cypermethrin results in decreased expression of GAD1 mRNA	26115703
C017160	cypermethrin	cypermethrin results in decreased expression of GAD1 protein	26115703
C093628	cyproconazole	cyproconazole results in decreased expression of GAD1 mRNA	25182419
D000077209	Decitabine	Decitabine inhibits the reaction [bisphenol A results in decreased expression of GAD1 mRNA]	23791455
D003907	Dexamethasone	BDNF protein inhibits the reaction [Dexamethasone results in increased expression of GAD1 mRNA]	31518422
D003907	Dexamethasone	Dexamethasone results in increased expression of GAD1 mRNA	31518422
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of GAD1 mRNA	29950665
D003975	Diazepam	Diazepam results in decreased expression of GAD1 mRNA	15802192
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of GAD1 mRNA	15620428
D004041	Dietary Fats	Dietary Fats results in increased expression of GAD1 mRNA	25016146
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of GAD1 mRNA	31163220
D004079	Dihydro-beta-Erythroidine	Dihydro-beta-Erythroidine analog inhibits the reaction [Nicotine results in increased expression of GAD1 mRNA]	28555334
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in increased expression of GAD1 mRNA	17065238
D016291	Dizocilpine Maleate	Dizocilpine Maleate inhibits the reaction [Oxygen deficiency results in decreased expression of GAD1 protein]	29107683
D018492	Dopamine Antagonists	Dopamine Antagonists results in increased expression of GAD1 mRNA	15044549
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of GAD1 mRNA	17065238
D015773	Enalaprilat	Enalaprilat inhibits the reaction [AGT protein modified form results in decreased expression of GAD1]	24342267
D004726	Endosulfan	Endosulfan results in increased expression of GAD1 mRNA	21036383
C118739	entinostat	entinostat results in increased expression of GAD1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of GAD1 protein	27659729
D004958	Estradiol	EGF protein promotes the reaction [Estradiol results in increased expression of GAD1 mRNA]	24758408
D004958	Estradiol	Estradiol results in increased expression of GAD1 mRNA	24758408
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of GAD1 mRNA	19833106
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of GAD1 mRNA	22154832
D004958	Estradiol	Estradiol results in increased expression of GAD1 mRNA	22154832
D004958	Estradiol	Estradiol results in increased expression of GAD1 mRNA	15677881
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of GAD1 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of GAD1 mRNA	15729141
D005033	Ethylmaleimide	Ethylmaleimide results in decreased activity of GAD1 protein	15836621
C045989	eticlopride	eticlopride results in increased expression of GAD1 mRNA	15044549
C540355	fenamidone	fenamidone results in decreased expression of GAD1 mRNA	27029645
D005473	Fluoxetine	Fluoxetine results in increased expression of GAD1 mRNA	17033635
D016666	Fluvoxamine	[Haloperidol co-treated with Fluvoxamine] affects the expression of GAD1 protein	15967061
D004397	Fonofos	Fonofos results in increased methylation of GAD1 promoter	22847954
C039281	furan	furan results in increased methylation of GAD1 gene	22079235
D005665	Furosemide	Furosemide results in decreased expression of GAD1 mRNA	14596865
D005680	gamma-Aminobutyric Acid	GAD1 protein results in increased chemical synthesis of gamma-Aminobutyric Acid	11875278; 9634146;
D005680	gamma-Aminobutyric Acid	GAD1 protein results in increased chemical synthesis of gamma-Aminobutyric Acid	15571623
D005680	gamma-Aminobutyric Acid	GAD1 protein results in increased chemical synthesis of gamma-Aminobutyric Acid	12376704; 15368530;
D019833	Genistein	Genistein results in decreased expression of GAD1 mRNA	21782745
D005947	Glucose	Glucose promotes the reaction [[IPF1 protein binds to GAD1 promoter] which results in increased expression of GAD1 mRNA]	12150938; 12150938;
D005947	Glucose	Glucose results in increased expression of GAD1 mRNA	12150938
D005947	Glucose	GAD1 protein results in decreased susceptibility to [Oxygen deficiency co-treated with Glucose deficiency]	25966616
D006220	Haloperidol	[Haloperidol co-treated with Fluvoxamine] affects the expression of GAD1 protein	15967061
D006220	Haloperidol	Haloperidol results in decreased expression of GAD1 mRNA	14519413
D006220	Haloperidol	Haloperidol results in decreased expression of GAD1 protein	19359144
D006220	Haloperidol	Haloperidol results in increased expression of GAD1 mRNA	12887421; 15061247; 18923069;
D006854	Hydrocortisone	Hydrocortisone results in increased expression of GAD1 protein	15531528
D006861	Hydrogen Peroxide	GAD1 protein results in decreased susceptibility to Hydrogen Peroxide	15369822
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of GAD1 mRNA	20044591
C492448	ICG 001	ICG 001 results in decreased expression of GAD1 mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of GAD1 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of GAD1 mRNA	27392435
D007608	Kainic Acid	Kainic Acid results in increased expression of GAD1 mRNA	16797850
D007649	Ketamine	acetovanillone inhibits the reaction [Ketamine results in decreased expression of GAD1 protein]	18063801
D007649	Ketamine	Ketamine results in decreased expression of GAD1	18063801
D007649	Ketamine	Ketamine results in increased expression of GAD1 mRNA	23660488
D007854	Lead	Lead affects the expression of GAD1 mRNA	28903495
D007854	Lead	Lead results in decreased expression of GAD1 protein	15149801
D000077339	Leflunomide	Leflunomide results in increased expression of GAD1 mRNA	28988120
D007980	Levodopa	Levodopa results in increased expression of GAD1 mRNA	14622157
D007980	Levodopa	6-methyl-2-(phenylethynyl)pyridine inhibits the reaction [Levodopa promotes the reaction [Oxidopamine results in increased expression of GAD1 mRNA]]	19660528
D007980	Levodopa	Levodopa inhibits the reaction [Oxidopamine results in increased expression of GAD1 mRNA]	17241287
D007980	Levodopa	Levodopa promotes the reaction [Oxidopamine results in increased expression of GAD1 mRNA]	19660528
D007980	Levodopa	Levodopa results in increased expression of GAD1 mRNA	15837143
C025340	manganese chloride	manganese chloride results in decreased expression of GAD1 mRNA	12106697
D008715	Methionine	Methionine promotes the reaction [MECP2 binds to GAD1 promoter]	16113080
D008715	Methionine	Methionine results in decreased expression of GAD1	20442623
D008715	Methionine	Methionine results in decreased expression of GAD1 mRNA	15671176
D008715	Methionine	Methionine results in decreased expression of GAD1 protein	16113080
D008715	Methionine	Valproic Acid inhibits the reaction [Methionine results in decreased expression of GAD1 protein]	20442623
D008727	Methotrexate	GAD1 protein affects the susceptibility to Methotrexate	16217747
D008727	Methotrexate	Methotrexate results in decreased expression of GAD1 mRNA	24449571
C030667	methylazoxymethanol	methylazoxymethanol results in decreased expression of GAD1 mRNA	23932495
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GAD1 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of GAD1 mRNA	21385734
D009020	Morphine	Morphine results in increased expression of GAD1 mRNA	15673448; 18312583;
D009151	Mustard Gas	Mustard Gas results in increased expression of GAD1 mRNA	15674844
C029938	nickel sulfate	nickel sulfate results in increased expression of GAD1 mRNA	22714537
D009538	Nicotine	Dihydro-beta-Erythroidine analog inhibits the reaction [Nicotine results in increased expression of GAD1 mRNA]	28555334
D009538	Nicotine	Nicotine results in decreased methylation of GAD1 promoter	28555334
D009538	Nicotine	Nicotine results in increased expression of GAD1 mRNA	18312583; 28555334;
D009538	Nicotine	Nicotine results in increased expression of GAD1 protein	28555334
C025256	nonylphenol	nonylphenol results in increased expression of GAD1 mRNA	15620428
D000077152	Olanzapine	Olanzapine results in decreased expression of GAD1 mRNA	14519413
D000077152	Olanzapine	Olanzapine results in decreased expression of GAD1 protein	19359144
D016627	Oxidopamine	Oxidopamine results in increased expression of GAD1 mRNA	14622157
D016627	Oxidopamine	6-methyl-2-(phenylethynyl)pyridine inhibits the reaction [Levodopa promotes the reaction [Oxidopamine results in increased expression of GAD1 mRNA]]	19660528
D016627	Oxidopamine	Levodopa inhibits the reaction [Oxidopamine results in increased expression of GAD1 mRNA]	17241287
D016627	Oxidopamine	Levodopa promotes the reaction [Oxidopamine results in increased expression of GAD1 mRNA]	19660528
D016627	Oxidopamine	Oxidopamine results in increased expression of GAD1 mRNA	12077209; 15044549; 15610165; 17241287; 19660528;
D010100	Oxygen	Oxygen deficiency results in increased expression of GAD1 mRNA	26516004
D010100	Oxygen	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Oxygen deficiency results in decreased expression of GAD1 protein]	29107683
D010100	Oxygen	Dizocilpine Maleate inhibits the reaction [Oxygen deficiency results in decreased expression of GAD1 protein]	29107683
D010100	Oxygen	Oxygen deficiency results in decreased expression of and results in increased degradation of GAD1 protein	29107683
D010100	Oxygen	Oxygen deficiency results in decreased expression of GAD1 mRNA	29107683
D010100	Oxygen	GAD1 protein results in decreased susceptibility to [Oxygen deficiency co-treated with Glucose deficiency]	25966616
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of GAD1 mRNA	26272509
D010269	Paraquat	Paraquat results in decreased expression of GAD1 mRNA	17493592
D010278	Parathion	Parathion results in increased methylation of GAD1 promoter	22847954
D052638	Particulate Matter	Particulate Matter results in increased expression of GAD1 mRNA	22178795
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in decreased expression of GAD1 protein	23916505
C046012	pentanal	pentanal results in increased expression of GAD1 mRNA	26079696
D010433	Pentylenetetrazole	[Pentylenetetrazole co-treated with Vigabatrin] affects the expression of GAD1 mRNA	21503142
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of GAD1 mRNA	23978341
C023036	perfluorooctanoic acid	[perfluorooctanoic acid co-treated with PPARA] results in increased expression of GAD1 mRNA	20118188
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of GAD1 mRNA	20118188
C000593032	PGW5 compound	PGW5 compound affects the expression of GAD1 protein	24389121
C033457	phenobarbital quinidine	phenobarbital quinidine results in decreased expression of GAD1 mRNA	15802192
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAD1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of GAD1 mRNA	26272509
D010852	Picrotoxin	Picrotoxin results in increased expression of GAD1 mRNA	15170462
D010862	Pilocarpine	Pilocarpine results in increased expression of GAD1 mRNA	16797850
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of GAD1 mRNA	19833106
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of GAD1 mRNA	22154832
C005556	propionaldehyde	propionaldehyde results in increased expression of GAD1 mRNA	26079696
D011433	Propranolol	Propranolol inhibits the reaction [Amphetamine inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
D011433	Propranolol	Propranolol inhibits the reaction [Clenbuterol inhibits the reaction [3-acetylpyridine results in increased expression of GAD1 mRNA]]	8774452
D011441	Propylthiouracil	Propylthiouracil results in increased expression of GAD1 mRNA	24780913
D011441	Propylthiouracil	[Thioctic Acid co-treated with Propylthiouracil] results in increased expression of GAD1 mRNA	31068541
D011732	Pyridoxal Phosphate	Pyridoxal Phosphate binds to GAD1 protein modified form	15686475
D011732	Pyridoxal Phosphate	Pyridoxal Phosphate results in increased activity of GAD1 protein	171340
D011732	Pyridoxal Phosphate	Pyridoxal Phosphate results in decreased activity of GAD1 protein	7463050
C003257	pyridoxal phosphate gamma-glutamyl hydrazone	pyridoxal phosphate gamma-glutamyl hydrazone results in decreased activity of GAD1 protein	171340
D011794	Quercetin	Quercetin results in increased expression of GAD1 mRNA	21632981
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in increased expression of GAD1 mRNA	19059307
D012110	Reserpine	Clenbuterol inhibits the reaction [Reserpine results in increased expression of GAD1 mRNA]	8774452
D012110	Reserpine	Reserpine results in increased expression of GAD1 mRNA	8774452
C017947	sodium arsenite	sodium arsenite results in increased expression of GAD1 mRNA	22714537; 29301061;
C017947	sodium arsenite	sodium arsenite results in increased expression of GAD1 mRNA	20376865
D017673	Sodium Chloride, Dietary	Amitrole promotes the reaction [Sodium Chloride, Dietary results in decreased expression of GAD1 protein]	25891026
D017673	Sodium Chloride, Dietary	catalase-polyethylene glycol inhibits the reaction [Sodium Chloride, Dietary results in decreased expression of GAD1 protein]	25891026
D017673	Sodium Chloride, Dietary	Sodium Chloride, Dietary results in decreased expression of GAD1 protein	25891026
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of GAD1 mRNA	23274088
C049985	staurosporine aglycone	staurosporine aglycone results in decreased expression of GAD1 mRNA	12859332
C049985	staurosporine aglycone	staurosporine aglycone results in decreased expression of GAD1 protein	12859332
D013311	Streptozocin	Curcumin inhibits the reaction [Streptozocin results in decreased expression of GAD1 mRNA]	23267840
D013311	Streptozocin	INS1 protein inhibits the reaction [Streptozocin results in decreased expression of GAD1 mRNA]	23267840
D013311	Streptozocin	Streptozocin results in decreased expression of GAD1 mRNA	23267840
D013469	Sulpiride	Sulpiride results in decreased methylation of GAD1 promoter	18757738
D013469	Sulpiride	Valproic Acid promotes the reaction [Sulpiride results in decreased methylation of GAD1 promoter]	18757738
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in increased expression of GAD1 mRNA	19059307
C012568	terbufos	terbufos results in increased methylation of GAD1 promoter	22847954
D013739	Testosterone	Testosterone results in increased expression of GAD1 mRNA	21281643
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GAD1 mRNA	16714409
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GAD1 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GAD1 mRNA	20106945; 21632981; 21802500;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GAD1 mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GAD1 mRNA	12060831
D008063	Thioctic Acid	[Thioctic Acid co-treated with Propylthiouracil] results in increased expression of GAD1 mRNA	31068541
C016151	tinuvin	tinuvin analog results in decreased expression of GAD1 mRNA	30315675
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of GAD1 mRNA	29950665
D014050	Toluene	Toluene affects the expression of GAD1 mRNA	21827849
D014212	Tretinoin	Tretinoin results in decreased expression of GAD1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of GAD1 mRNA	11841568; 22466603;
D014212	Tretinoin	Tretinoin results in increased expression of GAD1 protein alternative form	11841568
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of GAD1 mRNA	24935251; 26272509;
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of GAD1 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of GAD1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GAD1 mRNA	23179753; 24383497; 24935251; 28001369;
D014635	Valproic Acid	Valproic Acid inhibits the reaction [MECP2 binds to GAD1 promoter]	16113080
D014635	Valproic Acid	Valproic Acid inhibits the reaction [Methionine results in decreased expression of GAD1 protein]	20442623
D014635	Valproic Acid	Valproic Acid promotes the reaction [Chlorpromazine results in decreased methylation of GAD1 promoter]	19110320
D014635	Valproic Acid	Valproic Acid promotes the reaction [Clozapine results in decreased methylation of GAD1 promoter]	18757738
D014635	Valproic Acid	Valproic Acid promotes the reaction [Sulpiride results in decreased methylation of GAD1 promoter]	18757738
D014635	Valproic Acid	Valproic Acid results in decreased expression of GAD1 mRNA	24896083
D014635	Valproic Acid	Valproic Acid results in decreased methylation of GAD1 promoter	20716949
D014635	Valproic Acid	Valproic Acid results in increased expression of GAD1 mRNA	15737665
D014635	Valproic Acid	Valproic Acid results in increased expression of GAD1 protein	15379904
D014635	Valproic Acid	Valproic Acid results in decreased expression of GAD1 protein	30404997
D014635	Valproic Acid	Valproic Acid results in increased expression of GAD1	20716949
D020888	Vigabatrin	[Pentylenetetrazole co-treated with Vigabatrin] affects the expression of GAD1 mRNA	21503142
D020888	Vigabatrin	Vigabatrin results in increased expression of GAD1 protein	11673025
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GAD1 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of GAD1 mRNA	26272509
D015032	Zinc	Zinc deficiency results in increased expression of GAD1 mRNA	18356318

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0210	Decarboxylase
KW-0225	Disease mutation
KW-0456	Lyase
KW-0530	Neurotransmitter biosynthesis
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0663	Pyridoxal phosphate
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR002129	PyrdxlP-dep_de-COase
IPR015424	PyrdxlP-dep_Trfase
IPR015421	PyrdxlP-dep_Trfase_major
IPR021115	Pyridoxal-P_BS

PROSITE

PROSITE ID	PROSITE Term
PS00392	DDC_GAD_HDC_YDC

Pfam

Pfam ID	Pfam Term
PF00282	Pyridoxal_deC

Gene: GAD1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction