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: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		disease 0.970 None 1.000 7 17 2007 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		disease 0.720 None 1.000 0 4 2015 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease 0.400 None 1.000 0 2 2004 2020
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease 0.370 None 1.000 0 1 1999 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 4 3 2009 2019