Fanconi-bickel syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Fanconi-Bickel syndrome 2088 SLC2A2 Causal Pathogenic evidence from ClinVar - ClinVar
Fanconi-Bickel Syndrome C3495427 SLC2A2 Causal Pathogenic evidence from ClinVar 9354798, 10987651, 11044475, 11810292, 21327337, 22060631, 22145468, 22660720, 22831748, 22865906, 24718840, 25919556, 27487919, 27604308 ClinVar
EHHADH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GPX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9851889 -
SLC34A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -