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: 1180
Gene Symbol: CLCN1
CLCN1 		P35523 chloride voltage-gated channel 1 Ion channel 23 0.641 0.423 3.3E-20 0.100 None 0 1
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		P12107 collagen type XI alpha 1 chain 20 0.495 0.846 1.00 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 82 0.380 0.808 1.00 0.100 None 0 1
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1