Source: ORPHANET

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: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 1 0 1997 2020
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		ELOVL fatty acid elongase 4 0.601 0.577 0.83
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 0.540 None 1.000 1 0 2005 2012
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 0.500 None 1.000 1 0 2005 2005
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 0.340 None 1.000 0 0 2007 2016
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		prominin 1 0.410 0.846 1.9E-22
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 0.310 None 1.000 1 0 2008 2017