Source: INFERRED

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
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype 0.100 None 0 0