familial juvenile hyperuricemic nephropathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (Human Disease Ontology, DOID_0060062)
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22 genes co-occuring with the disease familial juvenile hyperuricemic nephropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
UMOD uromodulin 3.08482
NPHP1 nephronophthisis 1 (juvenile) 1.45001
HNF1B HNF1 homeobox B 1.33589
NPHP4 nephronophthisis 4 1.21392
CRYM crystallin, mu 1.09881
KIF3A kinesin family member 3A 0.886799
OFD1 oral-facial-digital syndrome 1 0.861818
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 0.817155
ANKH ANKH inorganic pyrophosphate transport regulator 0.780251
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.761862
LGALS9 lectin, galactoside-binding, soluble, 9 0.692697
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 0.683892
IRAK1 interleukin-1 receptor-associated kinase 1 0.617094
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 0.615529
APRT adenine phosphoribosyltransferase 0.550134
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.415398
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.336144
LCAT lecithin-cholesterol acyltransferase 0.311377
G6PC glucose-6-phosphatase, catalytic subunit 0.303059
HRAS Harvey rat sarcoma viral oncogene homolog 0.298371
PAX2 paired box 2 0.267977
GSK3B glycogen synthase kinase 3 beta 0.239101