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Gene ID | Symbol | Synonyms | Official Full Name | Location | SZ group ? | Functional group ? |
---|---|---|---|---|---|---|
6653 | SORL1 | C11orf32 | LR11 | LRP9 | SORLA | SorLA-1 | gp250 | sortilin-related receptor, L(DLR class) A repeats containing | 11q23.2-q24.2 | CV:PGCnp DMG:Montano_2016 GSMA_I PMID:cooccur | CompositeSet Darnell FMRP targets |
5053 | PAH | PH | PKU | PKU1 | phenylalanine hydroxylase | 12q23.2 | CV:PGCnp PMID:cooccur | |
1009 | CDH11 | CAD11 | CDHOB | OB | OSF-4 | cadherin 11 | 16q21 | CV:PGCnp PMID:cooccur | CELL ADHESION AND TRANSSYNAPTIC SIGNALING |
5289 | PIK3C3 | VPS34 | Vps34 | hVps34 | phosphatidylinositol 3-kinase catalytic subunit type 3 | 18q12.3 | Association CV:PGCnp GR_WM PMID:cooccur | |
965 | CD58 | LFA-3 | LFA3 | ag3 | CD58 molecule | 1p13 | CV:PGCnp CV:PheWAS DMG:Wockner_2014 GSMA_I GSMA_IIA | |
910 | CD1B | CD1 | CD1A | R1 | CD1b molecule | 1q23.1 | CV:PGCnp DMG:Wockner_2014 GSMA_I GSMA_IIA | |
7078 | TIMP3 | HSMRK222 | K222 | K222TA2 | SFD | TIMP metallopeptidase inhibitor 3 | 22q12.3 | Association CV:PGCnp GSMA_I | |
307 | ANXA4 | ANX4 | HEL-S-274 | P32.5 | PAP-II | PIG28 | PP4-X | ZAP36 | annexin A4 | 2p13 | CV:PGCnp | |
9262 | STK17B | DRAK2 | serine/threonine kinase 17b | 2q32.3 | CV:PGCnp | |
5523 | PPP2R3A | PPP2R3 | PR130 | PR72 | protein phosphatase 2 regulatory subunit B'', alpha | 3q22.1 | CV:GWASdb CV:PGCnp DMG:Jaffe_2016 | |
5921 | RASA1 | CM-AVM | CMAVM | GAP | PKWS | RASA | RASGAP | p120 | p120GAP | p120RASGAP | RAS p21 protein activator 1 | 5q13.3 | CV:PGCnp DMG:Jaffe_2016 GO_Annotation Network | |
2246 | FGF1 | AFGF | ECGF | ECGF-beta | ECGFA | ECGFB | FGF-1 | FGF-alpha | FGFA | GLIO703 | HBGF-1 | HBGF1 | fibroblast growth factor 1 | 5q31 | Association CV:PGCnp GR_Ng GR_WM GSMA_I GSMA_IIA GSMA_IIE PMID:cooccur | NEUROTROPHIN SIGNALING |
2669 | GEM | KIR | GTP binding protein overexpressed in skeletal muscle | 8q13-q21 | CV:PGCnp PMID:cooccur | |
7306 | TYRP1 | CAS2 | CATB | GP75 | OCA3 | TRP | TRP1 | TYRP | b-PROTEIN | tyrosinase-related protein 1 | 9p23 | CV:GWASdb CV:PGCnp | |