Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS 		PTCHD1 antisense RNA (head to head) 9 0.839 0.308 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.100 None 0 1
Entrez Id: 3930
Gene Symbol: LBR
LBR 		Q14739 lamin B receptor Enzyme 12 0.473 0.808 0.18 0.100 None 0 1
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		P78562 phosphate regulating endopeptidase homolog X-linked Enzyme 11 0.548 0.808 1.00 0.100 None 0 1
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		O00469 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Enzyme 10 0.559 0.654 6.7E-08 0.100 None 0 2
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 31 0.555 0.731 1.1E-44 0.100 None 0 5
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.100 None 0 1