Fanconi Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (Human Disease Ontology, DOID_1062)
External Link https://www.disgenet.org/browser/0/1/0/C0015624
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Genes

26 genes associated with the disease Fanconi Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CLCN5 chloride channel, voltage-sensitive 5
CTNS cystinosin, lysosomal cystine transporter
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
FANCA Fanconi anemia, complementation group A
FANCI Fanconi anemia, complementation group I
GPX3 glutathione peroxidase 3
HNF4A hepatocyte nuclear factor 4, alpha
HSPA4 heat shock 70kDa protein 4
IGF2R insulin-like growth factor 2 receptor
LRP2 low density lipoprotein receptor-related protein 2
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
OCRL oculocerebrorenal syndrome of Lowe
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
SCN7A sodium channel, voltage gated, type VII alpha subunit
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
VNN1 vanin 1
VNN2 vanin 2
XPR1 xenotropic and polytropic retrovirus receptor 1