hematuria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). (Human Phenotype Ontology, HP_0000790)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000790
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Genes

65 genes associated with the hematuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGGF1 angiogenic factor with G patch and FHA domains 1
AGXT alanine-glyoxylate aminotransferase
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
APOA1 apolipoprotein A-I
APRT adenine phosphoribosyltransferase
CARD9 caspase recruitment domain family, member 9
CD2AP CD2-associated protein
CFH complement factor H
CFHR5 complement factor H-related 5
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNASE1L3 deoxyribonuclease I-like 3
ENG endoglin
FAN1 FANCD2/FANCI-associated nuclease 1
FGA fibrinogen alpha chain
FN1 fibronectin 1
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
LAMB2 laminin, beta 2 (laminin S)
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LYZ lysozyme
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
OCRL oculocerebrorenal syndrome of Lowe
POU6F2 POU class 6 homeobox 2
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SCARB2 scavenger receptor class B, member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLITRK6 SLIT and NTRK-like family, member 6
SMAD4 SMAD family member 4
STAT1 signal transducer and activator of transcription 1, 91kDa
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UMPS uridine monophosphate synthetase
WT1 Wilms tumor 1
YAP1 Yes-associated protein 1