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: 7287
Gene Symbol: TULP1
TULP1 		TUB like protein 1 0.623 0.462 5.7E-04
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease 0.100 None 0 2
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease 0.100 None 0 1