CleftGeneDB-Search

Gene: TWIST1

Basic information

Tag	Content
Uniprot ID	Q15672; A4D128; Q92487; Q99804;
Entrez ID	7291
Genbank protein ID	CAA67664.1; CAA71821.1; AAC50930.1; AAH36704.1; EAL24279.1; CAA62850.1; AAC60381.2;
Genbank nucleotide ID	NM_000474.3; XM_011515496.1;
Ensembl protein ID	ENSP00000242261
Ensembl nucleotide ID	ENSG00000122691
Gene name	Twist-related protein 1
Gene symbol	TWIST1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).
Sequence	MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV 60 GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP QSYEELQTQR VMANVRERQR 120 TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK LAARYIDFLY QVLQSDELDS KMASCSYVAH 180 ERLSYAFSVW RMEGAWSMSA SH 202

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

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TWIST1	782170	G3N341			Bos taurus	Prediction	More>>
1:1 ortholog	TWIST1		A0A452EBT3			Capra hircus	Prediction	More>>
1:1 ortholog	TWIST1	7291	Q15672			Homo sapiens	Prediction	More>>
1:1 ortholog	Twist1	22160	P26687	CPO	E13.5, E14.5, E15.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	TWIST1		H2R5G5			Pan troglodytes	Prediction	More>>
1:1 ortholog		100516456	A0A4X1TEI0			Sus scrofa	Prediction	More>>
1:1 ortholog	Twist1	85489	Q9EPJ1			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1483717033	p.Ser7Gly	missense variant	-	NC_000007.14:g.19117303T>C	TOPMed
rs1204274226	p.Val10Asp	missense variant	-	NC_000007.14:g.19117293A>T	TOPMed
rs192275163	p.Pro12Leu	missense variant	-	NC_000007.14:g.19117287G>A	TOPMed,gnomAD
rs1251636952	p.Pro12Thr	missense variant	-	NC_000007.14:g.19117288G>T	gnomAD
rs1032642485	p.Asp14Tyr	missense variant	-	NC_000007.14:g.19117282C>A	TOPMed
rs767564383	p.Ser16Gly	missense variant	-	NC_000007.14:g.19117276T>C	ExAC
rs1315930064	p.Ser16Ile	missense variant	-	NC_000007.14:g.19117275C>A	TOPMed,gnomAD
rs761167660	p.Ser18Asn	missense variant	-	NC_000007.14:g.19117269C>T	ExAC,TOPMed,gnomAD
rs761167660	p.Ser18Thr	missense variant	-	NC_000007.14:g.19117269C>G	ExAC,TOPMed,gnomAD
rs1040135367	p.Glu21Asp	missense variant	-	NC_000007.14:g.19117259C>G	TOPMed,gnomAD
rs1008683492	p.Pro24Leu	missense variant	-	NC_000007.14:g.19117251G>A	TOPMed
rs559821440	p.Pro24Ala	missense variant	-	NC_000007.14:g.19117252G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1208022905	p.Asp25Glu	missense variant	-	NC_000007.14:g.19117247G>T	TOPMed,gnomAD
rs763618520	p.Asp25Gly	missense variant	-	NC_000007.14:g.19117248T>C	ExAC,TOPMed,gnomAD
rs1171762153	p.Arg26Gln	missense variant	-	NC_000007.14:g.19117245C>T	TOPMed,gnomAD
rs1171762153	p.Arg26Pro	missense variant	-	NC_000007.14:g.19117245C>G	TOPMed,gnomAD
RCV000008447	p.Gln28Ter	nonsense	Saethre-Chotzen syndrome with eyelid anomalies	NC_000007.14:g.19117240G>A	ClinVar
rs104894055	p.Gln28Ter	stop gained	-	NC_000007.14:g.19117240G>A	-
rs1484332948	p.Pro30Arg	missense variant	-	NC_000007.14:g.19117233G>C	TOPMed,gnomAD
rs1478055727	p.Ser31Ile	missense variant	-	NC_000007.14:g.19117230C>A	gnomAD
rs878852992	p.Gly32Cys	missense variant	-	NC_000007.14:g.19117228C>A	TOPMed,gnomAD
rs878852992	p.Gly32Ser	missense variant	-	NC_000007.14:g.19117228C>T	TOPMed,gnomAD
rs1196347469	p.Gly32Asp	missense variant	-	NC_000007.14:g.19117227C>T	gnomAD
RCV000224073	p.Gly32Ser	missense variant	-	NC_000007.14:g.19117228C>T	ClinVar
RCV000497302	p.Gly32Ser	missense variant	-	NC_000007.14:g.19117228C>T	ClinVar
RCV000765953	p.Gly32Ser	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117228C>T	ClinVar
rs930856354	p.Lys33Gln	missense variant	-	NC_000007.14:g.19117225T>G	TOPMed
RCV000695036	p.Lys33Ter	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117212_19117233del	ClinVar
rs1450640106	p.Gly35Arg	missense variant	-	NC_000007.14:g.19117219C>G	TOPMed,gnomAD
rs920859481	p.Gly35Glu	missense variant	-	NC_000007.14:g.19117218C>T	TOPMed
rs1450640106	p.Gly35Arg	missense variant	-	NC_000007.14:g.19117219C>T	TOPMed,gnomAD
rs1227188751	p.Gly36Val	missense variant	-	NC_000007.14:g.19117215C>A	gnomAD
rs541418085	p.Arg37Leu	missense variant	-	NC_000007.14:g.19117212C>A	1000Genomes
rs1316063636	p.Ser42Gly	missense variant	-	NC_000007.14:g.19117198T>C	gnomAD
rs1156562532	p.Arg43Thr	missense variant	-	NC_000007.14:g.19117194C>G	TOPMed
RCV000653735	p.Ser45Ter	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117184_19117194del	ClinVar
rs2522202	p.Ser45Thr	missense variant	-	NC_000007.14:g.19117188C>G	TOPMed,gnomAD
rs2522202	p.Ser45Asn	missense variant	-	NC_000007.14:g.19117188C>T	TOPMed,gnomAD
rs2522201	p.Ser45Arg	missense variant	-	NC_000007.14:g.19117187G>T	TOPMed,gnomAD
rs2522201	p.Ser45Arg	missense variant	-	NC_000007.14:g.19117187G>C	TOPMed,gnomAD
rs1229160500	p.Ala46Thr	missense variant	-	NC_000007.14:g.19117186C>T	TOPMed,gnomAD
rs927996258	p.Gly47Asp	missense variant	-	NC_000007.14:g.19117182C>T	TOPMed
rs927996258	p.Gly47Val	missense variant	-	NC_000007.14:g.19117182C>A	TOPMed
rs1291515956	p.Gly49Ser	missense variant	-	NC_000007.14:g.19117177C>T	TOPMed,gnomAD
rs1305059157	p.Gly51Val	missense variant	-	NC_000007.14:g.19117170C>A	TOPMed
rs1240544595	p.Pro52Arg	missense variant	-	NC_000007.14:g.19117167G>C	TOPMed
rs1357153711	p.Gly54Arg	missense variant	-	NC_000007.14:g.19117162C>T	TOPMed
rs991344055	p.Ala55Asp	missense variant	-	NC_000007.14:g.19117158G>T	TOPMed
rs957243800	p.Ala56Thr	missense variant	-	NC_000007.14:g.19117156C>T	TOPMed,gnomAD
rs1372366604	p.Ala56Val	missense variant	-	NC_000007.14:g.19117155G>A	TOPMed,gnomAD
rs1439939723	p.Gly57Asp	missense variant	-	NC_000007.14:g.19117152C>T	TOPMed
rs1276640143	p.Gly58Trp	missense variant	-	NC_000007.14:g.19117150C>A	TOPMed,gnomAD
rs1276640143	p.Gly58Arg	missense variant	-	NC_000007.14:g.19117150C>T	TOPMed,gnomAD
rs1441522390	p.Gly61Ala	missense variant	-	NC_000007.14:g.19117140C>G	TOPMed
rs1352606643	p.Gly63Ser	missense variant	-	NC_000007.14:g.19117135C>T	gnomAD
rs1449444508	p.Glu65Ter	stop gained	-	NC_000007.14:g.19117129C>A	gnomAD
rs1447848123	p.Pro66Arg	missense variant	-	NC_000007.14:g.19117125G>C	TOPMed
rs1009026530	p.Pro66Ser	missense variant	-	NC_000007.14:g.19117126G>A	TOPMed,gnomAD
rs1009026530	p.Pro66Thr	missense variant	-	NC_000007.14:g.19117126G>T	TOPMed,gnomAD
rs888879704	p.Gly67Asp	missense variant	-	NC_000007.14:g.19117122C>T	TOPMed,gnomAD
rs888879704	p.Gly67Ala	missense variant	-	NC_000007.14:g.19117122C>G	TOPMed,gnomAD
rs1170238284	p.Ser68Arg	missense variant	-	NC_000007.14:g.19117118G>T	gnomAD
rs1051003265	p.Ser68Ile	missense variant	-	NC_000007.14:g.19117119C>A	TOPMed,gnomAD
rs1051003265	p.Ser68Asn	missense variant	-	NC_000007.14:g.19117119C>T	TOPMed,gnomAD
rs1051003265	p.Ser68Thr	missense variant	-	NC_000007.14:g.19117119C>G	TOPMed,gnomAD
rs1477496986	p.Pro69Gln	missense variant	-	NC_000007.14:g.19117116G>T	gnomAD
rs1180340591	p.Ala70Ser	missense variant	-	NC_000007.14:g.19117114C>A	gnomAD
RCV000008448	p.Gln71Ter	nonsense	Robinow Sorauf syndrome	NC_000007.14:g.19117111G>A	ClinVar
rs104894065	p.Gln71Ter	stop gained	-	NC_000007.14:g.19117111G>A	-
rs1252602632	p.Gly72Asp	missense variant	-	NC_000007.14:g.19117107C>T	TOPMed
rs1201759732	p.Gly72Ser	missense variant	-	NC_000007.14:g.19117108C>T	TOPMed
rs899365191	p.Lys77Arg	missense variant	-	NC_000007.14:g.19117092T>C	TOPMed
rs1210753898	p.Ala79Glu	missense variant	-	NC_000007.14:g.19117086G>T	gnomAD
rs1210753898	p.Ala79Val	missense variant	-	NC_000007.14:g.19117086G>A	gnomAD
rs1444006714	p.Gly80Asp	missense variant	-	NC_000007.14:g.19117083C>T	TOPMed,gnomAD
rs1183999884	p.Cys81Trp	missense variant	-	NC_000007.14:g.19117079A>C	TOPMed
rs545987863	p.Gly83Ser	missense variant	-	NC_000007.14:g.19117075C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs545987863	p.Gly83Ser	missense variant	-	NC_000007.14:g.19117075C>T	UniProt,dbSNP
VAR_077470	p.Gly83Ser	missense variant	-	NC_000007.14:g.19117075C>T	UniProt
rs1310233431	p.Gly84Cys	missense variant	-	NC_000007.14:g.19117072C>A	TOPMed,gnomAD
rs1310233431	p.Gly84Ser	missense variant	-	NC_000007.14:g.19117072C>T	TOPMed,gnomAD
rs1402632837	p.Gly85Ser	missense variant	-	NC_000007.14:g.19117069C>T	TOPMed
rs1361338524	p.Gly88Cys	missense variant	-	NC_000007.14:g.19117060C>A	gnomAD
rs1160054875	p.Gly90Ser	missense variant	-	NC_000007.14:g.19117054C>T	gnomAD
rs1437382015	p.Gly90Ala	missense variant	-	NC_000007.14:g.19117053C>G	gnomAD
rs948098172	p.Gly92Ser	missense variant	-	NC_000007.14:g.19117048C>T	TOPMed,gnomAD
rs925811677	p.Ser93Gly	missense variant	-	NC_000007.14:g.19117045T>C	TOPMed
rs1235651232	p.Ser94Asn	missense variant	-	NC_000007.14:g.19117041C>T	gnomAD
rs575299986	p.Ser95Gly	missense variant	-	NC_000007.14:g.19117039T>C	1000Genomes,ExAC,TOPMed
rs1341092811	p.Ser95Arg	missense variant	-	NC_000007.14:g.19117037G>T	TOPMed
rs771482968	p.Gly96Ser	missense variant	-	NC_000007.14:g.19117036C>T	ExAC
rs747020030	p.Gly96Ala	missense variant	-	NC_000007.14:g.19117035C>G	ExAC,gnomAD
COSM3879990	p.Gly97Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19117033C>T	NCI-TCGA Cosmic
rs1351710234	p.Ser99Thr	missense variant	-	NC_000007.14:g.19117026C>G	gnomAD
rs1427332350	p.Ser99Gly	missense variant	-	NC_000007.14:g.19117027T>C	TOPMed
rs779988331	p.Gln101His	missense variant	-	NC_000007.14:g.19117019C>G	ExAC,TOPMed,gnomAD
rs369437599	p.Gln101Arg	missense variant	-	NC_000007.14:g.19117020T>C	ESP,ExAC,gnomAD
RCV000698045	p.Gln101Ter	nonsense	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117021G>A	ClinVar
RCV000760816	p.Gln101Ter	nonsense	-	NC_000007.14:g.19117021G>A	ClinVar
rs750252427	p.Ser102Cys	missense variant	-	NC_000007.14:g.19117017G>C	ExAC,TOPMed,gnomAD
rs375193589	p.Ser102Pro	missense variant	-	NC_000007.14:g.19117018A>G	ESP,ExAC,TOPMed,gnomAD
rs375193589	p.Ser102Thr	missense variant	-	NC_000007.14:g.19117018A>T	ESP,ExAC,TOPMed,gnomAD
RCV000008437	p.Tyr103Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19117014dup	ClinVar
RCV000008439	p.Tyr103Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19117013G>T	ClinVar
rs104894054	p.Tyr103Ter	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19117013G>T	-
rs121909186	p.Tyr103Ter	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19117014dup	-
rs757253926	p.Glu104Gln	missense variant	-	NC_000007.14:g.19117012C>G	ExAC,gnomAD
rs757253926	p.Glu104Lys	missense variant	-	NC_000007.14:g.19117012C>T	ExAC,gnomAD
rs372098969	p.Glu104Asp	missense variant	-	NC_000007.14:g.19117010C>G	ESP,ExAC,TOPMed,gnomAD
rs372098969	p.Glu104Asp	missense variant	-	NC_000007.14:g.19117010C>A	ESP,ExAC,TOPMed,gnomAD
rs763711150	p.Glu105Asp	missense variant	-	NC_000007.14:g.19117007C>G	ExAC,gnomAD
rs1230428800	p.Leu106Val	missense variant	-	NC_000007.14:g.19117006G>C	TOPMed,gnomAD
rs202235694	p.Thr108Arg	missense variant	-	NC_000007.14:g.19116999G>C	gnomAD
COSM3832456	p.Gln109Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.19116997G>A	NCI-TCGA Cosmic
RCV000802635	p.Arg110Pro	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116993C>G	ClinVar
rs1085307555	p.Arg110Pro	missense variant	-	NC_000007.14:g.19116993C>G	TOPMed
rs1085307555	p.Arg110Gln	missense variant	-	NC_000007.14:g.19116993C>T	TOPMed
rs202071774	p.Val111Ile	missense variant	-	NC_000007.14:g.19116991C>T	gnomAD
rs200933313	p.Met112Val	missense variant	-	NC_000007.14:g.19116988T>C	gnomAD
rs200933313	p.Met112Leu	missense variant	-	NC_000007.14:g.19116988T>G	gnomAD
rs200933313	p.Met112Leu	missense variant	-	NC_000007.14:g.19116988T>A	gnomAD
NCI-TCGA novel	p.Asn114Ser	missense variant	-	NC_000007.14:g.19116981T>C	NCI-TCGA
rs1554442021	p.Asn114Thr	missense variant	-	NC_000007.14:g.19116981T>G	-
RCV000653731	p.Asn114Thr	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116981T>G	ClinVar
rs1487469592	p.Val115Leu	missense variant	-	NC_000007.14:g.19116979C>G	gnomAD
RCV000653736	p.Arg116Gly	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116976G>C	ClinVar
rs1554442019	p.Arg116Gly	missense variant	-	NC_000007.14:g.19116976G>C	-
COSM3879988	p.Arg116Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116976G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu117Gln	missense variant	-	NC_000007.14:g.19116973C>G	NCI-TCGA
rs1554442016	p.Glu117Gly	missense variant	-	NC_000007.14:g.19116972T>C	-
rs1554442016	p.Glu117Val	missense variant	-	NC_000007.14:g.19116972T>A	-
rs1554442016	p.Glu117Val	missense variant	Sweeney-Cox syndrome (SWCOS)	NC_000007.14:g.19116972T>A	UniProt,dbSNP
VAR_080516	p.Glu117Val	missense variant	Sweeney-Cox syndrome (SWCOS)	NC_000007.14:g.19116972T>A	UniProt
RCV000513176	p.Glu117Gly	missense variant	SWEENEY-COX SYNDROME (SWCOS)	NC_000007.14:g.19116972T>C	ClinVar
RCV000512820	p.Glu117Val	missense variant	SWEENEY-COX SYNDROME (SWCOS)	NC_000007.14:g.19116972T>A	ClinVar
VAR_080515	p.Glu117Gly	Missense	Sweeney-Cox syndrome (SWCOS) [MIM:617746]	-	UniProt
rs1554442015	p.Arg118Gly	missense variant	-	NC_000007.14:g.19116970G>C	-
rs1288123581	p.Arg118His	missense variant	-	NC_000007.14:g.19116969C>T	gnomAD
RCV000625526	p.Arg118Gly	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116970G>C	ClinVar
COSM1449859	p.Arg118Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116970G>A	NCI-TCGA Cosmic
RCV000008438	p.Gln119Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	ClinVar
rs104894057	p.Gln119Pro	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116966T>G	-
rs104894057	p.Gln119Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	UniProt,dbSNP
VAR_004495	p.Gln119Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	UniProt
rs1233220987	p.Arg120Cys	missense variant	-	NC_000007.14:g.19116964G>A	gnomAD
rs1397568809	p.Gln122Lys	missense variant	-	NC_000007.14:g.19116958G>T	gnomAD
rs1554442008	p.Ser123Pro	missense variant	-	NC_000007.14:g.19116955A>G	-
RCV000008440	p.Ser123Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116954G>T	ClinVar
rs121909187	p.Ser123Ter	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116954G>T	-
RCV000598314	p.Ser123Pro	missense variant	-	NC_000007.14:g.19116955A>G	ClinVar
RCV000706654	p.Glu126Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116946C>A	ClinVar
rs1438116786	p.Glu126Gly	missense variant	-	NC_000007.14:g.19116945T>C	gnomAD
rs121909188	p.Glu126Ter	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116946C>A	-
RCV000008441	p.Glu126Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116946C>A	ClinVar
COSM600326	p.Ala127Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116942G>A	NCI-TCGA Cosmic
rs774655051	p.Ala129Ser	missense variant	-	NC_000007.14:g.19116937C>A	ExAC,gnomAD
rs1295087857	p.Ala129Asp	missense variant	-	NC_000007.14:g.19116936G>T	TOPMed,gnomAD
rs774655051	p.Ala129Pro	missense variant	-	NC_000007.14:g.19116937C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala130Thr	missense variant	-	NC_000007.14:g.19116934C>T	NCI-TCGA
RCV000008442	p.Leu131Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	ClinVar
rs121909189	p.Leu131Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	UniProt,dbSNP
VAR_004496	p.Leu131Pro	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	UniProt
rs121909189	p.Leu131Pro	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116930A>G	-
rs1554441995	p.Arg132Pro	missense variant	-	NC_000007.14:g.19116927C>G	-
RCV000526309	p.Arg132Pro	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116927C>G	ClinVar
rs1192029769	p.Ile135Val	missense variant	-	NC_000007.14:g.19116919T>C	gnomAD
VAR_004497	p.Ile135insIleAlaAlaLeuArgLysIleIle	inframe_insertion	Saethre-Chotzen syndrome (SCS) [MIM:101400]	-	UniProt
COSM745583	p.Pro136His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116915G>T	NCI-TCGA Cosmic
RCV000653734	p.Thr137Ter	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116917dup	ClinVar
VAR_004498	p.Pro139insProLysIleIleProThrLeuPro	inframe_insertion	Saethre-Chotzen syndrome (SCS) [MIM:101400]	-	UniProt
RCV000579299	p.Ser140Ter	nonsense	-	NC_000007.14:g.19116903G>T	ClinVar
rs1554441987	p.Ser140Ter	stop gained	-	NC_000007.14:g.19116903G>T	-
RCV000687499	p.Ser140Ter	nonsense	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116904_19116924dup	ClinVar
NCI-TCGA novel	p.Lys142Thr	missense variant	-	NC_000007.14:g.19116897T>G	NCI-TCGA
COSM1088200	p.Ile146Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116884A>C	NCI-TCGA Cosmic
rs757839483	p.Gln147Glu	missense variant	-	NC_000007.14:g.19116883G>C	ExAC,gnomAD
rs754664781	p.Lys150Asn	missense variant	-	NC_000007.14:g.19116872C>G	ExAC,TOPMed,gnomAD
RCV000539175	p.Ala152Glu	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116867G>T	ClinVar
rs754179756	p.Ala152Thr	missense variant	-	NC_000007.14:g.19116868C>T	ExAC,gnomAD
rs1554441982	p.Ala152Glu	missense variant	-	NC_000007.14:g.19116867G>T	-
rs773699341	p.Arg154Ser	missense variant	-	NC_000007.14:g.19116860C>A	ExAC,gnomAD
RCV000008446	p.Ile156Val	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	ClinVar
rs104894059	p.Ile156Val	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	UniProt,dbSNP
VAR_015219	p.Ile156Val	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	UniProt
rs104894059	p.Ile156Val	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116856T>C	-
rs73079388	p.Ile156Met	missense variant	-	NC_000007.14:g.19116854G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe158Val	missense variant	-	NC_000007.14:g.19116850A>C	NCI-TCGA
RCV000693539	p.Leu159Phe	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116847G>A	ClinVar
rs1372603694	p.Gln161Glu	missense variant	-	NC_000007.14:g.19116841G>C	gnomAD
rs749574847	p.Ser165Asn	missense variant	-	NC_000007.14:g.19116828C>T	ExAC,gnomAD
COSM6177444	p.Ser165Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116828C>G	NCI-TCGA Cosmic
rs776280385	p.Asp166Asn	missense variant	-	NC_000007.14:g.19116826C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu167Ala	missense variant	-	NC_000007.14:g.19116822T>G	NCI-TCGA
NCI-TCGA novel	p.Glu167Ter	stop gained	-	NC_000007.14:g.19116823C>A	NCI-TCGA
rs1240371620	p.Glu167Gln	missense variant	-	NC_000007.14:g.19116823C>G	TOPMed,gnomAD
rs1240371620	p.Glu167Lys	missense variant	-	NC_000007.14:g.19116823C>T	TOPMed,gnomAD
rs746786963	p.Lys171Arg	missense variant	-	NC_000007.14:g.19116810T>C	ExAC,TOPMed,gnomAD
rs777710395	p.Met172Ile	missense variant	-	NC_000007.14:g.19116806C>T	ExAC,gnomAD
rs1363931970	p.Ala173Val	missense variant	-	NC_000007.14:g.19116804G>A	TOPMed,gnomAD
rs1264131515	p.Ser174Gly	missense variant	-	NC_000007.14:g.19116802T>C	TOPMed
rs1310135591	p.Tyr177Cys	missense variant	-	NC_000007.14:g.19116792T>C	gnomAD
rs374993339	p.His180Asp	missense variant	-	NC_000007.14:g.19116784G>C	ESP,ExAC,TOPMed,gnomAD
RCV000008444	p.Glu181Ter	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116781C>A	ClinVar
rs104894058	p.Glu181Ter	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>A	1000Genomes,ExAC,gnomAD
rs104894058	p.Glu181Lys	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>T	1000Genomes,ExAC,gnomAD
rs104894058	p.Glu181Ter	stop gained	-	NC_000007.14:g.19116781C>A	NCI-TCGA,NCI-TCGA Cosmic
rs104894058	p.Glu181Lys	missense variant	-	NC_000007.14:g.19116781C>T	NCI-TCGA Cosmic
rs104894058	p.Glu181Gln	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>G	1000Genomes,ExAC,gnomAD
COSM3832455	p.Ser184Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116771C>A	NCI-TCGA Cosmic
COSM3637096	p.Ser184Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116772T>C	NCI-TCGA Cosmic
RCV000008449	p.Ala186Thr	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	ClinVar
rs121909190	p.Ala186Thr	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	UniProt,dbSNP
VAR_034985	p.Ala186Thr	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	UniProt
rs121909190	p.Ala186Thr	missense variant	-	NC_000007.14:g.19116766C>T	-
rs1554441944	p.Phe187Ser	missense variant	-	NC_000007.14:g.19116762A>G	-
RCV000653732	p.Phe187Ser	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116762A>G	ClinVar
RCV000008450	p.Ser188Leu	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	ClinVar
rs121909191	p.Ser188Trp	missense variant	-	NC_000007.14:g.19116759G>C	gnomAD
rs121909191	p.Ser188Leu	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	UniProt,dbSNP
VAR_034986	p.Ser188Leu	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	UniProt
rs121909191	p.Ser188Leu	missense variant	-	NC_000007.14:g.19116759G>A	gnomAD
rs1303554812	p.Val189Ala	missense variant	-	NC_000007.14:g.19116756A>G	gnomAD
NCI-TCGA novel	p.Trp190Ter	stop gained	-	NC_000007.14:g.19116753C>T	NCI-TCGA
rs753590887	p.Trp190Ter	stop gained	-	NC_000007.14:g.19116752C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg191Trp	missense variant	-	NC_000007.14:g.19116751T>A	NCI-TCGA
NCI-TCGA novel	p.Arg191Gly	missense variant	-	NC_000007.14:g.19116751T>C	NCI-TCGA
rs200097632	p.Arg191Ser	missense variant	-	NC_000007.14:g.19116749C>G	gnomAD
rs1420485349	p.Glu193Lys	missense variant	-	NC_000007.14:g.19116745C>T	gnomAD
rs1181554043	p.Ala195Thr	missense variant	-	NC_000007.14:g.19116739C>T	TOPMed
rs1419074080	p.Ala195Val	missense variant	-	NC_000007.14:g.19116738G>A	gnomAD
rs1183147495	p.Trp196Arg	missense variant	-	NC_000007.14:g.19116736A>T	gnomAD
rs768094186	p.Met198Leu	missense variant	-	NC_000007.14:g.19116730T>G	ExAC,gnomAD
rs768094186	p.Met198Val	missense variant	-	NC_000007.14:g.19116730T>C	ExAC,gnomAD
rs1370066657	p.Ser199Tyr	missense variant	-	NC_000007.14:g.19116726G>T	TOPMed
rs762445986	p.Ala200Thr	missense variant	-	NC_000007.14:g.19116724C>T	ExAC,TOPMed,gnomAD
rs375138242	p.Ala200Val	missense variant	-	NC_000007.14:g.19116723G>A	ESP,ExAC,gnomAD
rs375138242	p.Ala200Gly	missense variant	-	NC_000007.14:g.19116723G>C	ESP,ExAC,gnomAD
rs762445986	p.Ala200Thr	missense variant	-	NC_000007.14:g.19116724C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1341039131	p.Ser201Phe	missense variant	-	NC_000007.14:g.19116720G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001193	Apert syndrome	disease	BEFREE;CTD_human
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0003130	Anoxia	phenotype	LHGDN
C0003504	Aortic Valve Insufficiency	disease	BEFREE
C0003864	Arthritis	disease	BEFREE
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005745	Blepharoptosis	disease	BEFREE;HPO
C0005747	Blepharospasm	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006386	Bunion	phenotype	HPO
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0008626	Congenital chromosomal disease	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010278	Craniosynostosis	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO;LHGDN;UNIPROT
C0010346	Crohn Disease	disease	LHGDN
C0010701	Phyllodes Tumor	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0013080	Down Syndrome	disease	BEFREE
C0014859	Esophageal Neoplasms	group	BEFREE
C0015300	Exophthalmos	disease	HPO
C0016667	Fragile X Syndrome	disease	BEFREE
C0017638	Glioma	disease	BEFREE;LHGDN
C0018133	Graft-vs-Host Disease	disease	BEFREE
C0018536	Hallux Valgus	phenotype	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018798	Congenital Heart Defects	group	BEFREE;HPO
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND
C0020302	Hydrophthalmos	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020538	Hypertensive disease	group	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0024003	Lordosis	phenotype	HPO
C0024115	Lung diseases	group	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0025202	melanoma	disease	BEFREE;LHGDN
C0025362	Mental Retardation	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0026351	Moderate mental retardation (I.Q. 35-49)	disease	HPO
C0027430	Nasal Polyps	disease	BEFREE
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;CTD_human;LHGDN
C0027651	Neoplasms	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029410	Osteoarthritis of hip	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030044	Acrocephaly	disease	CTD_human;HPO
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0032584	polyps	phenotype	BEFREE
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0033377	Ptosis	disease	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0034063	Pulmonary Edema	disease	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE
C0035435	Rheumatism	disease	LHGDN
C0035436	Rheumatic Fever	disease	BEFREE
C0035934	Rubinstein-Taybi Syndrome	disease	BEFREE
C0036202	Sarcoidosis	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0036920	Sezary Syndrome	disease	BEFREE;LHGDN
C0038356	Stomach Neoplasms	group	BEFREE;CTD_human;LHGDN
C0038379	Strabismus	disease	HPO
C0039075	Syndactyly	disease	BEFREE
C0039093	Congenital abnormal Synostosis	disease	BEFREE;LHGDN
C0041107	Trisomy	group	BEFREE
C0149516	Chronic sinusitis	disease	BEFREE
C0151740	Intracranial Hypertension	disease	BEFREE;HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0152021	Congenital heart disease	group	HPO
C0152423	Congenital small ears	disease	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0158761	Radioulnar Synostosis	disease	HPO
C0175699	Saethre-Chotzen Syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0178874	Tumor Progression	phenotype	BEFREE
C0205770	Choroid Plexus Papilloma	disease	BEFREE
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	CTD_human
C0206638	Giant Cell Tumor of Bone	disease	BEFREE
C0206650	Fibroadenoma	disease	BEFREE
C0206693	Medullary carcinoma	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0206762	Limb Deformities, Congenital	group	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0220630	Adult Liver Carcinoma	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220658	Pfeiffer Syndrome	disease	CTD_human
C0221352	Syndactyly of fingers	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0221356	Brachycephaly	disease	CTD_human;HPO;ORPHANET
C0221357	Brachydactyly	disease	BEFREE;HPO
C0221358	Long narrow head	phenotype	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	BEFREE
C0238461	Anaplastic thyroid carcinoma	disease	BEFREE
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239234	Low set ears	phenotype	HPO
C0239337	Deformity of limb	group	BEFREE
C0239676	High forehead	phenotype	HPO
C0239946	Fibrosis, Liver	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240538	Convex nasal ridge	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0264490	Acute respiratory failure	disease	BEFREE
C0265529	Plagiocephaly	disease	HPO;ORPHANET
C0265534	Scaphycephaly	disease	BEFREE;CTD_human;HPO;ORPHANET
C0265535	Trigonocephaly	disease	CTD_human
C0265660	Syndactyly of the toes	disease	HPO
C0266061	Open Bite	phenotype	HPO
C0266589	Congenital ear anomaly NOS (disorder)	group	HPO
C0266617	Congenital anomaly of face	group	BEFREE
C0277828	Late fontanel closure	phenotype	HPO
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0278701	Gastric Adenocarcinoma	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279563	Lobular carcinoma in situ of breast	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280317	Squamous cell carcinoma of tonsil	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0334381	Non-infiltrating lobular carcinoma	disease	BEFREE
C0338502	Hypoplasia of the optic nerve	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0346957	Disseminated Malignant Neoplasm	phenotype	BEFREE
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	BEFREE
C0423221	Globe of eye large	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0424690	Asymmetrical skull	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0432072	Dysmorphic features	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0546952	Congenital facial asymmetry	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0730328	Central Serous Chorioretinopathy	disease	BEFREE
C0740404	Limb defects	group	BEFREE
C0740451	Granulomatous disorder	group	BEFREE
C0750974	Brain Tumor, Primary	disease	BEFREE
C0751265	Learning Disabilities	disease	BEFREE
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0879615	Stromal Neoplasm	disease	BEFREE
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C0948245	Cytokine release syndrome	disease	BEFREE
C0948627	Cancer of lymph node	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1305420	Prominent ear	phenotype	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306710	Facial asymmetry	phenotype	HPO
C1332079	Anaplastic Large Cell Lymphoma, ALK-Positive	disease	BEFREE
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1398312	Narrow palate	phenotype	HPO
C1450010	Plagiocephaly, Nonsynostotic	phenotype	HPO
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1510455	Acrocephalosyndactylia	disease	CTD_human;LHGDN
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1519176	Salivary Gland Pleomorphic Adenoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1654637	androgen independent prostate cancer	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1833340	Synostotic Posterior Plagiocephaly	disease	BEFREE;CTD_human;HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839798	Long nose	phenotype	HPO
C1842366	Low anterior hairline	phenotype	HPO
C1846460	Abnormality of the outer ear	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1849089	Broad forehead	phenotype	HPO
C1849227	Cleft of chin	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853241	Flat face	phenotype	HPO
C1854113	Prominent nasal bridge	phenotype	HPO
C1856266	Coronal craniosynostosis	disease	BEFREE;HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1857485	Flat forehead	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1860164	Duplication of phalanx of hallux	phenotype	HPO
C1860819	Metopic synostosis	disease	CTD_human
C1861869	Underdeveloped supraorbital ridges	phenotype	HPO
C1862095	Bilateral single transverse palmar creases	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1863370	Saethre-Chotzen Syndrome with Eyelid Anomalies	disease	CLINVAR;CTD_human;UNIPROT
C1863371	BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY	disease	UNIPROT
C1863382	Absent first metatarsal	phenotype	HPO
C1863389	Apert-Crouzon Disease	disease	CTD_human
C1865244	Shallow orbits	phenotype	HPO
C1867131	Broad hallux	phenotype	HPO
C1867146	Robinow Sorauf syndrome	disease	CLINVAR;CTD_human
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2242703	Cardio-Renal Syndrome	disease	BEFREE
C2931150	Synostotic Anterior Plagiocephaly	disease	BEFREE;CTD_human
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C3805278	Extrahepatic Cholangiocarcinoma	disease	BEFREE
C3887875	Visual field defects	group	HPO
C4020691	Partial/complete duplication of the phalanges of the hallux	phenotype	HPO
C4020777	Underdeveloped brows	phenotype	HPO
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4021164	Bicoronal synostosis	disease	BEFREE
C4021360	Partial duplication of the distal phalanx of the 3rd finger	phenotype	HPO
C4021365	Partial duplication of the distal phalanx of the 2nd finger	phenotype	HPO
C4021377	Prominent crus of helix	phenotype	HPO
C4021395	Abnormality of the antihelix	phenotype	HPO
C4023383	Narrow internal auditory canal	phenotype	HPO
C4023418	Unicoronal synostosis	phenotype	BEFREE
C4025835	Abnormality of the nasolacrimal system	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4072830	Asymmetry of the posterior cranium	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4230640	Convex nasal bridge	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280562	Malformation of skull shape	phenotype	HPO
C4280563	Abnormality of skull shape	phenotype	HPO
C4280597	Rhomboid shaped head	phenotype	HPO
C4280598	Flattening of head	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280653	Turridolichocephaly	disease	HPO
C4280654	Narrow skull shape	disease	HPO
C4280655	Narrow head shape	disease	HPO
C4280656	Narrow cranium shape	disease	HPO
C4280807	Flattening of cranial vault	phenotype	HPO
C4318618	Peritoneal Surface Malignancy	disease	BEFREE
C4476527	Flat head	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IPI
GO:0019904	protein domain specific binding	IEA
GO:0042803	protein homodimerization activity	IEA
GO:0043425	bHLH transcription factor binding	IPI
GO:0070888	E-box binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0001503	ossification	TAS
GO:0001649	osteoblast differentiation	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001764	neuron migration	IEA
GO:0001843	neural tube closure	IEA
GO:0003180	aortic valve morphogenesis	IMP
GO:0003183	mitral valve morphogenesis	IEA
GO:0003203	endocardial cushion morphogenesis	IEA
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0007517	muscle organ development	IEA
GO:0010628	positive regulation of gene expression	IMP
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IMP
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0030500	regulation of bone mineralization	IMP
GO:0032000	positive regulation of fatty acid beta-oxidation	IMP
GO:0032720	negative regulation of tumor necrosis factor production	IEA
GO:0032760	positive regulation of tumor necrosis factor production	IMP
GO:0033128	negative regulation of histone phosphorylation	IMP
GO:0035067	negative regulation of histone acetylation	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0042473	outer ear morphogenesis	TAS
GO:0042476	odontogenesis	IEA
GO:0042733	embryonic digit morphogenesis	TAS
GO:0043066	negative regulation of apoptotic process	IEA
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP
GO:0045668	negative regulation of osteoblast differentiation	IMP
GO:0045766	positive regulation of angiogenesis	NAS
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048511	rhythmic process	IEA
GO:0048642	negative regulation of skeletal muscle tissue development	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IMP
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0060021	roof of mouth development	IEA
GO:0060363	cranial suture morphogenesis	TAS
GO:0060900	embryonic camera-type eye formation	IMP
GO:0061029	eyelid development in camera-type eye	IMP
GO:0071363	cellular response to growth factor stimulus	IEA
GO:0071456	cellular response to hypoxia	IMP
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	IMP
GO:2000144	positive regulation of DNA-templated transcription, initiation	IDA
GO:2000147	positive regulation of cell motility	NAS
GO:2000147	positive regulation of cell motility	IMP
GO:2000276	negative regulation of oxidative phosphorylation uncoupler activity	IEA
GO:2000679	positive regulation of transcription regulatory region DNA binding	IMP
GO:2000773	negative regulation of cellular senescence	IMP
GO:2000778	positive regulation of interleukin-6 secretion	IMP
GO:2000780	negative regulation of double-strand break repair	IMP
GO:2000793	cell proliferation involved in heart valve development	IMP
GO:2000802	positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-168256	Immune System	TAS
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-449147	Signaling by Interleukins	TAS
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878166	Transcriptional regulation by RUNX2	IEA
R-HSA-8878166	Transcriptional regulation by RUNX2	TAS
R-HSA-8939902	Regulation of RUNX2 expression and activity	IEA
R-HSA-8939902	Regulation of RUNX2 expression and activity	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TWIST1 mRNA	19167446
C034017	2-ethylhexanol	2-ethylhexanol results in increased expression of TWIST1 mRNA	31445079
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide 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 TWIST1 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 TWIST1 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 p-Chloromercuribenzoic Acid 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 TWIST1 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 increased expression of TWIST1 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 TWIST1 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 Valproic Acid 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 TWIST1 mRNA	27188386
C055506	4-(diethylamino)benzaldehyde	4-(diethylamino)benzaldehyde results in decreased expression of TWIST1 protein	16316642
C016583	4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone results in increased expression of TWIST1 mRNA	21167638
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of TWIST1 mRNA	29663660
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of TWIST1 protein	29663660
D015127	9,10-Dimethyl-1,2-benzanthracene	mithramycin A inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TWIST1 protein]	29663660
C496492	abrine	abrine results in increased expression of TWIST1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of TWIST1 mRNA	17585979
C016601	afimoxifene	afimoxifene inhibits the reaction [Estrogens results in decreased expression of TWIST1 mRNA]	21233418
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of TWIST1 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TWIST1 mRNA	28965971
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TWIST1 gene	27153756
C526957	alisol B 23-acetate	alisol B 23-acetate inhibits the reaction [AGT protein results in increased expression of TWIST1 protein]	28578904
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TWIST1 mRNA	16483693
D001151	Arsenic	TWIST1 protein results in decreased susceptibility to Arsenic	19806464
C015001	arsenite	arsenite results in increased methylation of TWIST1 promoter	23974009
C487081	belinostat	belinostat results in increased expression of TWIST1 protein	23671600
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TWIST1 mRNA	24847786
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TWIST1 protein	24847786
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TWIST1 mRNA	22610609
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TWIST1 mRNA	21839799
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TWIST1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of TWIST1 mRNA	22576693; 26363213;
C006780	bisphenol A	bisphenol A results in increased methylation of TWIST1 gene	22576693
C006780	bisphenol A	bisphenol A affects the methylation of TWIST1 promoter	27334623
C006780	bisphenol A	[bisphenol A co-treated with LIF protein] results in decreased expression of TWIST1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of TWIST1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of TWIST1 mRNA	25181051; 29323181;
C000611646	bisphenol F	bisphenol F results in increased expression of TWIST1 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of TWIST1 mRNA	23828170
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of TWIST1 mRNA	20478370
D002117	Calcitriol	Calcitriol results in decreased expression of TWIST1 mRNA	26485663
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TWIST1 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of TWIST1 protein	23518002
D002945	Cisplatin	Cisplatin results in decreased expression of TWIST1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of TWIST1 mRNA	21618587
D002945	Cisplatin	U 0126 inhibits the reaction [Cisplatin results in increased expression of TWIST1 mRNA]	21618587
C018021	cobaltous chloride	cobaltous chloride results in increased expression of and affects the localization of TWIST1 protein	26174737
C018021	cobaltous chloride	tetraethylenepentamine inhibits the reaction [cobaltous chloride results in increased expression of and affects the localization of TWIST1 protein]	26174737
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TWIST1 mRNA	19167446
D000077547	Crizotinib	TWIST1 protein results in decreased susceptibility to Crizotinib	22155737
D003907	Dexamethasone	Dexamethasone results in increased expression of TWIST1 mRNA	25047013
C042577	diallyl trisulfide	diallyl trisulfide results in decreased expression of TWIST1 protein	27566995
C042577	diallyl trisulfide	LDHA protein inhibits the reaction [diallyl trisulfide results in decreased expression of TWIST1 protein]	27566995
D004041	Dietary Fats	Dietary Fats results in decreased expression of TWIST1 mRNA	18042831
D004041	Dietary Fats	Dietary Fats results in increased expression of TWIST1 mRNA	25016146
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of TWIST1 mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 TWIST1 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 TWIST1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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 TWIST1 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 increased expression of TWIST1 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 TWIST1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 TWIST1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of TWIST1 mRNA	29803840
D000069347	Erlotinib Hydrochloride	TWIST1 protein inhibits the reaction [Erlotinib Hydrochloride results in increased cleavage of PARP1 protein]	30171258
D000069347	Erlotinib Hydrochloride	TWIST1 protein results in decreased susceptibility to Erlotinib Hydrochloride	30171258
D000069347	Erlotinib Hydrochloride	[TWIST1 protein results in decreased susceptibility to Erlotinib Hydrochloride] which results in decreased cleavage of PARP1 protein	30171258
D000069347	Erlotinib Hydrochloride	Erlotinib Hydrochloride results in increased expression of TWIST1 protein	30171258
D000069347	Erlotinib Hydrochloride	[TWIST1 protein results in decreased susceptibility to Erlotinib Hydrochloride] which results in decreased cleavage of CASP3 protein	30171258
D004958	Estradiol	Estradiol results in decreased expression of TWIST1 mRNA	18692832
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of TWIST1 mRNA	17404688; 18692832;
D004967	Estrogens	afimoxifene inhibits the reaction [Estrogens results in decreased expression of TWIST1 mRNA]	21233418
D004967	Estrogens	Estrogens results in decreased expression of TWIST1 mRNA	21233418
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of TWIST1 gene	16724327
D017313	Fenretinide	Fenretinide results in decreased expression of TWIST1 mRNA	28973697
D018120	Finasteride	Finasteride inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
D005480	Flurbiprofen	Flurbiprofen results in decreased expression of TWIST1 mRNA	16949054
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TWIST1 gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of TWIST1 promoter	22847954
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TWIST1 mRNA	29432896
D000077156	Gefitinib	TWIST1 protein affects the susceptibility to Gefitinib	30993382
C492448	ICG 001	ICG 001 inhibits the reaction [AGT protein results in increased expression of TWIST1 protein]	28578904
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TWIST1 mRNA	29432896
D019808	Losartan	Losartan inhibits the reaction [AGT protein results in increased expression of TWIST1 protein]	28578904
D008550	Melatonin	TWIST1 protein affects the reaction [Melatonin results in decreased expression of PROM1 protein]	30421542
C042720	mercuric bromide	mercuric bromide results in increased expression of TWIST1 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 TWIST1 mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in increased expression of TWIST1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TWIST1 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of TWIST1 mRNA	28001369
D008770	Methylnitrosourea	[Methylnitrosourea co-treated with Testosterone] results in increased expression of TWIST1 mRNA	25164625
D008770	Methylnitrosourea	Quercetin inhibits the reaction [[Methylnitrosourea co-treated with Testosterone] results in increased expression of TWIST1 mRNA]	25164625
C066851	mithramycin A	mithramycin A inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TWIST1 protein]	29663660
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of TWIST1 mRNA	26924002
C523799	MRK 003	TWIST1 results in increased susceptibility to MRK 003	19903844
C119536	nickel acetate	nickel acetate affects the expression of TWIST1 mRNA	23828170
D009534	Niclosamide	Niclosamide results in decreased expression of TWIST1 protein	29480568
D009538	Nicotine	Nicotine results in increased expression of TWIST1 mRNA	23219715
C000596361	osimertinib	TWIST1 protein affects the susceptibility to osimertinib	30993382
C000596361	osimertinib	TWIST1 protein inhibits the reaction [osimertinib results in increased cleavage of PARP1 protein]	30171258
C000596361	osimertinib	TWIST1 protein results in decreased susceptibility to osimertinib	30171258
C000596361	osimertinib	[TWIST1 protein results in decreased susceptibility to osimertinib] which results in decreased cleavage of PARP1 protein	30171258
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of TWIST1 mRNA	25729387
D010100	Oxygen	CA9 mutant form inhibits the reaction [[Oxygen deficiency results in increased expression of CA9 mRNA] which results in increased expression of TWIST1 mRNA]	26305601
D010100	Oxygen	[Oxygen deficiency results in increased expression of CA9 mRNA] which results in increased expression of TWIST1 mRNA	26305601
C102487	pachymic acid	pachymic acid analog inhibits the reaction [AGT protein results in increased expression of TWIST1 protein]	28578904
D000073878	Palm Oil	Palm Oil results in decreased expression of TWIST1 mRNA	18042831
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 TWIST1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of TWIST1 mRNA	26272509
D010278	Parathion	Parathion results in increased methylation of TWIST1 promoter	22847954
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TWIST1 mRNA	29432896
D052638	Particulate Matter	[Vehicle Emissions results in increased abundance of Particulate Matter] which results in increased expression of TWIST1 mRNA	30010986
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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 TWIST1 mRNA	27188386
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in decreased expression of TWIST1 mRNA	22790973
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 increased expression of TWIST1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of TWIST1 mRNA	26272509
C029217	phenyl-N-tert-butylnitrone	phenyl-N-tert-butylnitrone inhibits the reaction [Thalidomide results in decreased expression of TWIST1 mRNA]	12242718
C006253	pirinixic acid	pirinixic acid results in increased expression of TWIST1 mRNA	20813756
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TWIST1 mRNA	29432896
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of TWIST1 mRNA	17404688; 18692832;
D011374	Progesterone	Progesterone results in decreased expression of TWIST1 mRNA	17404688; 18692832;
D011441	Propylthiouracil	Propylthiouracil results in increased expression of TWIST1 mRNA	24780913
C432165	pyrazolanthrone	pyrazolanthrone inhibits the reaction [thymoquinone results in decreased expression of TWIST1 protein]	27060453
C587274	Qing Ye Dan	Qing Ye Dan inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
D011794	Quercetin	Quercetin results in decreased expression of TWIST1 protein	22422628
D011794	Quercetin	Quercetin inhibits the reaction [[Methylnitrosourea co-treated with Testosterone] results in increased expression of TWIST1 mRNA]	25164625
D000077185	Resveratrol	Resveratrol results in increased expression of TWIST1 mRNA	25866375
C093642	SB 203580	SB 203580 inhibits the reaction [thymoquinone results in decreased expression of TWIST1 protein]	27060453
C017947	sodium arsenite	EPAS1 mutant form inhibits the reaction [sodium arsenite results in increased expression of TWIST1 protein]	22662215
C017947	sodium arsenite	sodium arsenite promotes the reaction [EPAS1 protein binds to TWIST1 promoter]	22662215
C017947	sodium arsenite	sodium arsenite results in increased expression of TWIST1 mRNA	22662215
C017947	sodium arsenite	sodium arsenite results in increased expression of TWIST1 protein	22662215
D000077157	Sorafenib	Sorafenib results in decreased expression of TWIST1 mRNA	21360571
D000077210	Sunitinib	Sunitinib results in decreased expression of TWIST1 mRNA	31533062
C013270	swertiamarin	swertiamarin inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
C012568	terbufos	terbufos results in increased methylation of TWIST1 promoter	22847954
D013739	Testosterone	Finasteride inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
D013739	Testosterone	[Methylnitrosourea co-treated with Testosterone] results in increased expression of TWIST1 mRNA	25164625
D013739	Testosterone	Qing Ye Dan inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
D013739	Testosterone	Quercetin inhibits the reaction [[Methylnitrosourea co-treated with Testosterone] results in increased expression of TWIST1 mRNA]	25164625
D013739	Testosterone	swertiamarin inhibits the reaction [Testosterone results in increased expression of TWIST1 mRNA]	27866977
D013739	Testosterone	Testosterone results in increased expression of TWIST1 mRNA	27866977
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TWIST1 mRNA	30203000
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TWIST1 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [tributyltin results in decreased expression of TWIST1 mRNA]	22749964
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TWIST1 mRNA	21167638
C034269	tetraethylenepentamine	tetraethylenepentamine inhibits the reaction [cobaltous chloride results in increased expression of and affects the localization of TWIST1 protein]	26174737
C034269	tetraethylenepentamine	tetraethylenepentamine results in decreased expression of TWIST1 protein	26174737
D013792	Thalidomide	phenyl-N-tert-butylnitrone inhibits the reaction [Thalidomide results in decreased expression of TWIST1 mRNA]	12242718
D013792	Thalidomide	Thalidomide results in decreased expression of TWIST1 mRNA	12242718; 14713331;
C003466	thymoquinone	pyrazolanthrone inhibits the reaction [thymoquinone results in decreased expression of TWIST1 protein]	27060453
C003466	thymoquinone	SB 203580 inhibits the reaction [thymoquinone results in decreased expression of TWIST1 protein]	27060453
C003466	thymoquinone	thymoquinone results in decreased expression of TWIST1 protein	27060453
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of TWIST1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of TWIST1 protein	16316642
D014212	Tretinoin	Tretinoin results in increased expression of TWIST1 mRNA	21934132; 23724009;
C011559	tributyltin	Tetrachlorodibenzodioxin promotes the reaction [tributyltin results in decreased expression of TWIST1 mRNA]	22749964
C011559	tributyltin	tributyltin results in decreased expression of TWIST1 mRNA	22749964
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 TWIST1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of TWIST1 mRNA	24935251; 26272509;
C113580	U 0126	U 0126 inhibits the reaction [Cisplatin results in increased expression of TWIST1 mRNA]	21618587
C022884	undecane	undecane results in increased expression of TWIST1 protein	17337753
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 TWIST1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of TWIST1 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of TWIST1 mRNA	24896083; 31445079;
D001335	Vehicle Emissions	[Vehicle Emissions results in increased abundance of Particulate Matter] which results in increased expression of TWIST1 mRNA	30010986
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of TWIST1 gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of TWIST1 mRNA	26272509
D015025	Zearalenone	Zearalenone results in decreased expression of TWIST1 mRNA	28965971

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0090	Biological rhythms
KW-0989	Craniosynostosis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0517	Myogenesis
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf
IPR015789	Twist-related

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH

Pfam

Pfam ID	Pfam Term
PF00010	HLH

Gene: TWIST1

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