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: 137682
Gene Symbol: NDUFAF6
NDUFAF6 		NADH:ubiquinone oxidoreductase complex assembly factor 6 0.659 0.615 9.1E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 1615
Gene Symbol: DARS1
DARS1 		aspartyl-tRNA synthetase 1 0.711 0.500 8.5E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 2
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 2
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		potassium voltage-gated channel subfamily C member 1 0.711 0.154 0.99
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		eukaryotic translation initiation factor 2B subunit epsilon 0.615 0.769 6.4E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1