Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 2
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 2
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 2
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		neurotrophic receptor tyrosine kinase 2 0.479 0.808 1.00
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 1
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 1
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 1
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 1