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: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 1.000 None 0.978 1 0 1997 2020
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.700 None 1.000 1 0 2005 2005
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		ELOVL fatty acid elongase 4 0.601 0.577 0.83
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.540 None 1.000 1 0 1999 2018
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		prominin 1 0.410 0.846 1.9E-22
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.400 None 1.000 1 0 2008 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.320 None 1.000 0 0 2007 2012