fanconi syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

114 genes co-occuring with the disease fanconi syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
OCRL oculocerebrorenal syndrome of Lowe 2.11194
CTNS cystinosin, lysosomal cystine transporter 2.08683
CLCN5 chloride channel, voltage-sensitive 5 1.85273
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.7957
LRP2 low density lipoprotein receptor-related protein 2 1.67683
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 1.48384
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 1.40789
ARHGAP1 Rho GTPase activating protein 1 1.18238
DNAH8 dynein, axonemal, heavy chain 8 1.11603
CLCN4 chloride channel, voltage-sensitive 4 1.04125
HNF1A HNF1 homeobox A 1.0244
ALAD aminolevulinate dehydratase 1.01976
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 1.00752
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 0.964567
INPP5B inositol polyphosphate-5-phosphatase, 75kDa 0.820026
HPD 4-hydroxyphenylpyruvate dioxygenase 0.819206
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 0.803205
MYO5B myosin VB 0.774114
FGF23 fibroblast growth factor 23 0.770435
PTH parathyroid hormone 0.754527
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.704742
SRY sex determining region Y 0.70233
GALK1 galactokinase 1 0.701526
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.685891
SLC39A8 solute carrier family 39 (zinc transporter), member 8 0.668742
LCN2 lipocalin 2 0.657234
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 0.651694
SLC39A14 solute carrier family 39 (zinc transporter), member 14 0.647743
ALB albumin 0.642221
TMEM27 transmembrane protein 27 0.626103
GC group-specific component (vitamin D binding protein) 0.619834
B2M beta-2-microglobulin 0.597571
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 0.583552
SHPK sedoheptulokinase 0.567609
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.563723
FGD1 FYVE, RhoGEF and PH domain containing 1 0.561392
SLC5A4 solute carrier family 5 (glucose activated ion channel), member 4 0.557897
FXR1 fragile X mental retardation, autosomal homolog 1 0.549747
ALPPL2 alkaline phosphatase, placental-like 2 0.544318
ALPP alkaline phosphatase, placental 0.54393
ALPL alkaline phosphatase, liver/bone/kidney 0.543155
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 0.50459
CST3 cystatin C 0.495411
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 0.490454
GALE UDP-galactose-4-epimerase 0.488549
ANPEP alanyl (membrane) aminopeptidase 0.47753
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 0.475634
UMOD uromodulin 0.472982
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.45447
SRRM1 serine/arginine repetitive matrix 1 0.447311
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 0.431894
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 0.42289
HNF1B HNF1 homeobox B 0.419892
BSND barttin CLCNK-type chloride channel accessory beta subunit 0.401572
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.397098
CLCN3 chloride channel, voltage-sensitive 3 0.394863
NPEPPS aminopeptidase puromycin sensitive 0.391885
HLA-G major histocompatibility complex, class I, G 0.389281
REN renin 0.363347
TBK1 TANK-binding kinase 1 0.355604
GRB2 growth factor receptor-bound protein 2 0.340539
CASP4 caspase 4, apoptosis-related cysteine peptidase 0.340173
CLDN16 claudin 16 0.337608
NR0B2 nuclear receptor subfamily 0, group B, member 2 0.32373
CA2 carbonic anhydrase II 0.318999
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 0.315366
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide 0.30342
NFIA nuclear factor I/A 0.303059
COL1A1 collagen, type I, alpha 1 0.301615
IGLV7-43 immunoglobulin lambda variable 7-43 0.293334
NFIB nuclear factor I/B 0.290103
CLCNKB chloride channel, voltage-sensitive Kb 0.289027
PYGB phosphorylase, glycogen; brain 0.287593
PYGL phosphorylase, glycogen, liver 0.284728
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.278654
G6PC glucose-6-phosphatase, catalytic subunit 0.278297
OR10K1 olfactory receptor, family 10, subfamily K, member 1 0.273308
PEPD peptidase D 0.272597
PYGM phosphorylase, glycogen, muscle 0.260184
EMP1 epithelial membrane protein 1 0.258064
GCG glucagon 0.255241
HNF4A hepatocyte nuclear factor 4, alpha 0.248554
WIPF2 WAS/WASL interacting protein family, member 2 0.246799
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 0.245046
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.235268
TINAG tubulointerstitial nephritis antigen 0.234573
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 0.232836
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.229024
TF transferrin 0.225229
PORCN porcupine homolog (Drosophila) 0.224196
LIPC lipase, hepatic 0.221108
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.220766
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.206248
APRT adenine phosphoribosyltransferase 0.205585
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.205254
LYZ lysozyme 0.202946
GUSB glucuronidase, beta 0.201308
GPX3 glutathione peroxidase 3 0.199356
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 0.198064
GP1BA glycoprotein Ib (platelet), alpha polypeptide 0.197742
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 0.192971
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.191097
CYLD cylindromatosis (turban tumor syndrome) 0.190168
IGF2R insulin-like growth factor 2 receptor 0.186811
ADSL adenylosuccinate lyase 0.181798
PHKG2 phosphorylase kinase, gamma 2 (testis) 0.178403
PHKB phosphorylase kinase, beta 0.175679
GSR glutathione reductase 0.172799
GALT galactose-1-phosphate uridylyltransferase 0.170299
PHEX phosphate regulating endopeptidase homolog, X-linked 0.167682
AMBP alpha-1-microglobulin/bikunin precursor 0.166095
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 0.165001
LAMP2 lysosomal-associated membrane protein 2 0.161139
AGXT alanine-glyoxylate aminotransferase 0.158778