RHUC1
MCID: HYP761
MIFTS: 41

Hypouricemia, Renal, 1 (RHUC1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypouricemia, Renal, 1

MalaCards integrated aliases for Hypouricemia, Renal, 1:

Name: Hypouricemia, Renal, 1 57
Renal Hypouricemia 57 53 25 75 37 73
Hypouricemia, Renal 57 53 13 55
Familial Renal Hypouricemia 25 29 6
Dalmatian Hypouricemia 57 53 75
Hereditary Renal Hypouricemia 25 59
Rhuc1 57 75
Familial Renal Hypouricaemia 25
Hypouricemia, Renal, Type 1 40
Hypouricemia Renal 1 75
Rhuc 25

Characteristics:

Orphanet epidemiological data:

59
hereditary renal hypouricemia
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
usually asymptomatic
about 10% of patients develop exercise-induced renal failure and nephrolithiasis


HPO:

32
hypouricemia, renal, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Hypouricemia, Renal, 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94088Disease definitionHereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypouricemia, Renal, 1, also known as renal hypouricemia, is related to nephrolithiasis and hypouricemia, renal, 2. An important gene associated with Hypouricemia, Renal, 1 is SLC22A12 (Solute Carrier Family 22 Member 12), and among its related pathways/superpathways is Uricosurics Pathway, Pharmacodynamics. Affiliated tissues include kidney and testes, and related phenotypes are acute kidney injury and uric acid nephrolithiasis

Genetics Home Reference : 25 Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine.

OMIM : 57 Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). (220150)

UniProtKB/Swiss-Prot : 75 Hypouricemia renal 1: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.

Related Diseases for Hypouricemia, Renal, 1

Graphical network of the top 20 diseases related to Hypouricemia, Renal, 1:



Diseases related to Hypouricemia, Renal, 1

Symptoms & Phenotypes for Hypouricemia, Renal, 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
uric acid urolithiasis
uric acid nephrolithiasis
tubular defect in presecretory reabsorption of urate
exercise-induced acute renal failure with acute tubular necrosis

Laboratory Abnormalities:
hypouricemia
increased urinary urate
increased fractional excretion of urate (greater than 50%)


Clinical features from OMIM:

220150

Human phenotypes related to Hypouricemia, Renal, 1:

32
# Description HPO Frequency HPO Source Accession
1 acute kidney injury 32 HP:0001919
2 uric acid nephrolithiasis 32 HP:0000791
3 hypouricemia 32 HP:0003537
4 increased urinary urate 32 HP:0012611
5 acute tubular necrosis 32 HP:0008682

GenomeRNAi Phenotypes related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 SLC22A12 SLC2A9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.4 SLC2A9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.4 SLC2A9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.4 SLC22A12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.4 SLC2A9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.4 SLC2A9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.4 SLC22A12
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 SLC2A9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.4 SLC2A9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 SLC2A9
11 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.4 SLC22A12

MGI Mouse Phenotypes related to Hypouricemia, Renal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.33 HPRT1 SLC22A12 SLC2A9
2 digestive/alimentary MP:0005381 9.13 HPRT1 SLC22A12 SLC2A9
3 renal/urinary system MP:0005367 8.8 HPRT1 SLC22A12 SLC2A9

Drugs & Therapeutics for Hypouricemia, Renal, 1

Search Clinical Trials , NIH Clinical Center for Hypouricemia, Renal, 1

Genetic Tests for Hypouricemia, Renal, 1

Genetic tests related to Hypouricemia, Renal, 1:

# Genetic test Affiliating Genes
1 Familial Renal Hypouricemia 29 SLC22A12

Anatomical Context for Hypouricemia, Renal, 1

MalaCards organs/tissues related to Hypouricemia, Renal, 1:

41
Kidney, Testes

Publications for Hypouricemia, Renal, 1

Articles related to Hypouricemia, Renal, 1:

(show top 50) (show all 97)
# Title Authors Year
1
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. ( 29486147 )
2018
2
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia. ( 29958533 )
2018
3
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review. ( 30097038 )
2018
4
A rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricemia three months after kidney transplantation. ( 26971588 )
2016
5
A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia. ( 27780716 )
2016
6
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2. ( 26500098 )
2016
7
Urat1-Uox double knockout mice are experimental animal models of renal hypouricemia and exercise-induced acute kidney injury. ( 27906636 )
2016
8
Hereditary renal hypouricemia type 1 and autosomal dominant polycystic kidney disease. ( 26418379 )
2015
9
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction. ( 26033041 )
2015
10
A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review. ( 26848304 )
2015
11
Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2. ( 24940677 )
2014
12
Hereditary renal hypouricemia: a new role for allopurinol? ( 24262806 )
2014
13
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. ( 24397858 )
2014
14
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review. ( 24628802 )
2014
15
Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1. ( 23525542 )
2013
16
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. ( 23386035 )
2013
17
Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia. ( 23043931 )
2013
18
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1. ( 22045201 )
2012
19
Hereditary renal hypouricemia: a cause of calcium oxalate urolithiasis in a young female. ( 22257548 )
2012
20
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. ( 21810765 )
2012
21
A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis. ( 28509149 )
2012
22
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. ( 21256783 )
2011
23
Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia. ( 21722610 )
2011
24
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). ( 22132964 )
2011
25
Diagnostic tests for primary renal hypouricemia. ( 22132965 )
2011
26
Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. ( 21536615 )
2011
27
A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia. ( 21935282 )
2011
28
Two cases of renal hypouricemia in which dopamine infusion produced a good recovery from exercise-induced acute kidney injury. ( 21762638 )
2011
29
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews. ( 21148271 )
2011
30
The case: a young man with acute kidney injury after exercise. The diagnosis: exercise induced acute kidney injury in hereditary renal hypouricemia. ( 20431587 )
2010
31
Homozygous SLC2A9 mutations cause severe renal hypouricemia. ( 19926891 )
2010
32
Oxidative imbalance in idiopathic renal hypouricemia. ( 18936980 )
2009
33
Evaluation of the proximal tubular function in individuals with primary renal hypouricemia: an NMR-based metabonomic study. ( 19593759 )
2009
34
Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family. ( 19189137 )
2009
35
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome. ( 18760270 )
2008
36
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. ( 19026395 )
2008
37
Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. ( 19092327 )
2008
38
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. ( 18492088 )
2008
39
Hereditary renal hypouricemia. ( 16678460 )
2006
40
Renal hypouricemia in school-aged children: screening of serum uric acid level before physical training. ( 16955280 )
2006
41
A case of renal hypouricemia caused by urate transporter 1 gene mutations. ( 16724660 )
2006
42
[Genetic analysis of idiopathic renal hypouricemia: a case report and estimation of allelic frequency of the mutation]. ( 16872008 )
2006
43
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. ( 15634722 )
2005
44
Renal hypouricemia is an ominous sign in patients with severe acute respiratory syndrome. ( 15696447 )
2005
45
Evaluation of exercise-induced acute renal failure in renal hypouricemia using Tc-99m DTPA renography. ( 16097644 )
2005
46
Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese. ( 15772829 )
2005
47
Mutational analysis of idiopathic renal hypouricemia in Korea. ( 15912381 )
2005
48
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. ( 15054642 )
2004
49
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. ( 14694169 )
2004
50
A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. ( 15327384 )
2004

Variations for Hypouricemia, Renal, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypouricemia, Renal, 1:

75
# Symbol AA change Variation ID SNP ID
1 SLC22A12 p.Arg90His VAR_036721 rs121907896
2 SLC22A12 p.Val138Met VAR_036723 rs149722479
3 SLC22A12 p.Gly164Ser VAR_036724 rs201181059
4 SLC22A12 p.Thr217Met VAR_036725 rs121907893
5 SLC22A12 p.Glu298Asp VAR_036730 rs121907894
6 SLC22A12 p.Gln382Leu VAR_036734 rs765990518
7 SLC22A12 p.Leu418Arg VAR_036735 rs121907895
8 SLC22A12 p.Met430Thr VAR_036736
9 SLC22A12 p.Arg477His VAR_036737 rs773677616
10 SLC22A12 p.Gly366Arg VAR_075344 rs104797695

ClinVar genetic disease variations for Hypouricemia, Renal, 1:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A12 NM_144585.3(SLC22A12): c.774G> A (p.Trp258Ter) single nucleotide variant Pathogenic rs121907892 GRCh37 Chromosome 11, 64361219: 64361219
2 SLC22A12 NM_144585.3(SLC22A12): c.774G> A (p.Trp258Ter) single nucleotide variant Pathogenic rs121907892 GRCh38 Chromosome 11, 64593747: 64593747
3 SLC22A12 NM_144585.3(SLC22A12): c.650C> T (p.Thr217Met) single nucleotide variant Pathogenic rs121907893 GRCh37 Chromosome 11, 64361020: 64361020
4 SLC22A12 NM_144585.3(SLC22A12): c.650C> T (p.Thr217Met) single nucleotide variant Pathogenic rs121907893 GRCh38 Chromosome 11, 64593548: 64593548
5 SLC22A12 NM_144585.3(SLC22A12): c.894G> T (p.Glu298Asp) single nucleotide variant Pathogenic rs121907894 GRCh37 Chromosome 11, 64366051: 64366051
6 SLC22A12 NM_144585.3(SLC22A12): c.894G> T (p.Glu298Asp) single nucleotide variant Pathogenic rs121907894 GRCh38 Chromosome 11, 64598579: 64598579
7 SLC22A12 NM_144585.3(SLC22A12): c.1253T> G (p.Leu418Arg) single nucleotide variant Pathogenic rs121907895 GRCh37 Chromosome 11, 64367330: 64367330
8 SLC22A12 NM_144585.3(SLC22A12): c.1253T> G (p.Leu418Arg) single nucleotide variant Pathogenic rs121907895 GRCh38 Chromosome 11, 64599858: 64599858
9 SLC22A12 NM_144585.3(SLC22A12): c.269G> A (p.Arg90His) single nucleotide variant Pathogenic rs121907896 GRCh37 Chromosome 11, 64359297: 64359297
10 SLC22A12 NM_144585.3(SLC22A12): c.269G> A (p.Arg90His) single nucleotide variant Pathogenic rs121907896 GRCh38 Chromosome 11, 64591825: 64591825
11 SLC22A12 NM_144585.3(SLC22A12): c.1082G> T (p.Gly361Val) single nucleotide variant Pathogenic rs121907897 GRCh37 Chromosome 11, 64367159: 64367159
12 SLC22A12 NM_144585.3(SLC22A12): c.1082G> T (p.Gly361Val) single nucleotide variant Pathogenic rs121907897 GRCh38 Chromosome 11, 64599687: 64599687
13 SLC2A9 NM_020041.2(SLC2A9): c.592C> T (p.Arg198Cys) single nucleotide variant Likely benign rs121908322 GRCh37 Chromosome 4, 9982305: 9982305
14 SLC2A9 NM_020041.2(SLC2A9): c.592C> T (p.Arg198Cys) single nucleotide variant Likely benign rs121908322 GRCh38 Chromosome 4, 9980681: 9980681
15 SLC2A9 NM_020041.2(SLC2A9): c.249+11G> T single nucleotide variant Likely benign rs377565288 GRCh38 Chromosome 4, 10018964: 10018964
16 SLC2A9 NM_020041.2(SLC2A9): c.249+11G> T single nucleotide variant Likely benign rs377565288 GRCh37 Chromosome 4, 10020588: 10020588
17 SLC2A9 NM_020041.2(SLC2A9): c.*129C> A single nucleotide variant Likely benign rs550035001 GRCh38 Chromosome 4, 9826268: 9826268
18 SLC2A9 NM_020041.2(SLC2A9): c.*129C> A single nucleotide variant Likely benign rs550035001 GRCh37 Chromosome 4, 9827892: 9827892
19 SLC2A9 NM_020041.2(SLC2A9): c.1413C> A (p.Phe471Leu) single nucleotide variant Uncertain significance rs745845092 GRCh38 Chromosome 4, 9834887: 9834887
20 SLC2A9 NM_020041.2(SLC2A9): c.1413C> A (p.Phe471Leu) single nucleotide variant Uncertain significance rs745845092 GRCh37 Chromosome 4, 9836511: 9836511
21 SLC2A9 NM_020041.2(SLC2A9): c.1392T> C (p.Ala464=) single nucleotide variant Uncertain significance rs886059752 GRCh38 Chromosome 4, 9834908: 9834908
22 SLC2A9 NM_020041.2(SLC2A9): c.1392T> C (p.Ala464=) single nucleotide variant Uncertain significance rs886059752 GRCh37 Chromosome 4, 9836532: 9836532
23 SLC2A9 NM_020041.2(SLC2A9): c.1113+9A> C single nucleotide variant Benign rs2280204 GRCh38 Chromosome 4, 9908226: 9908226
24 SLC2A9 NM_020041.2(SLC2A9): c.1113+9A> C single nucleotide variant Benign rs2280204 GRCh37 Chromosome 4, 9909850: 9909850
25 SLC2A9 NM_020041.2(SLC2A9): c.898C> T (p.Arg300Cys) single nucleotide variant Likely benign rs74651202 GRCh37 Chromosome 4, 9922113: 9922113
26 SLC2A9 NM_020041.2(SLC2A9): c.898C> T (p.Arg300Cys) single nucleotide variant Likely benign rs74651202 GRCh38 Chromosome 4, 9920489: 9920489
27 SLC2A9 NM_020041.2(SLC2A9): c.844G> A (p.Val282Ile) single nucleotide variant Benign rs16890979 GRCh37 Chromosome 4, 9922167: 9922167
28 SLC2A9 NM_020041.2(SLC2A9): c.844G> A (p.Val282Ile) single nucleotide variant Benign rs16890979 GRCh38 Chromosome 4, 9920543: 9920543
29 SLC2A9 NM_020041.2(SLC2A9): c.1599T> C (p.Asp533=) single nucleotide variant Likely benign rs146590565 GRCh38 Chromosome 4, 9826421: 9826421
30 SLC2A9 NM_020041.2(SLC2A9): c.1599T> C (p.Asp533=) single nucleotide variant Likely benign rs146590565 GRCh37 Chromosome 4, 9828045: 9828045
31 SLC2A9 NM_020041.2(SLC2A9): c.1221C> T (p.His407=) single nucleotide variant Likely benign rs369754879 GRCh38 Chromosome 4, 9887637: 9887637
32 SLC2A9 NM_020041.2(SLC2A9): c.1221C> T (p.His407=) single nucleotide variant Likely benign rs369754879 GRCh37 Chromosome 4, 9889261: 9889261
33 SLC2A9 NM_020041.2(SLC2A9): c.1124T> C (p.Ile375Thr) single nucleotide variant Uncertain significance rs755325843 GRCh38 Chromosome 4, 9890701: 9890701
34 SLC2A9 NM_020041.2(SLC2A9): c.1124T> C (p.Ile375Thr) single nucleotide variant Uncertain significance rs755325843 GRCh37 Chromosome 4, 9892325: 9892325
35 SLC2A9 NM_020041.2(SLC2A9): c.1049C> T (p.Pro350Leu) single nucleotide variant Benign rs2280205 GRCh38 Chromosome 4, 9908299: 9908299
36 SLC2A9 NM_020041.2(SLC2A9): c.1049C> T (p.Pro350Leu) single nucleotide variant Benign rs2280205 GRCh37 Chromosome 4, 9909923: 9909923
37 SLC2A9 NM_020041.2(SLC2A9): c.354dupC (p.Ile119Hisfs) duplication Likely pathogenic rs772429581 GRCh38 Chromosome 4, 9996837: 9996837
38 SLC2A9 NM_020041.2(SLC2A9): c.354dupC (p.Ile119Hisfs) duplication Likely pathogenic rs772429581 GRCh37 Chromosome 4, 9998461: 9998461
39 SLC2A9 NM_020041.2(SLC2A9): c.1046C> T (p.Pro349Leu) single nucleotide variant Benign rs116742917 GRCh37 Chromosome 4, 9909926: 9909926
40 SLC2A9 NM_020041.2(SLC2A9): c.1046C> T (p.Pro349Leu) single nucleotide variant Benign rs116742917 GRCh38 Chromosome 4, 9908302: 9908302
41 SLC2A9 NM_020041.2(SLC2A9): c.883G> A (p.Val295Met) single nucleotide variant Likely benign rs75088806 GRCh37 Chromosome 4, 9922128: 9922128
42 SLC2A9 NM_020041.2(SLC2A9): c.883G> A (p.Val295Met) single nucleotide variant Likely benign rs75088806 GRCh38 Chromosome 4, 9920504: 9920504
43 SLC2A9 NM_020041.2(SLC2A9): c.843C> T (p.Asp281=) single nucleotide variant Uncertain significance rs374095603 GRCh37 Chromosome 4, 9922168: 9922168
44 SLC2A9 NM_020041.2(SLC2A9): c.843C> T (p.Asp281=) single nucleotide variant Uncertain significance rs374095603 GRCh38 Chromosome 4, 9920544: 9920544
45 SLC2A9 NM_020041.2(SLC2A9): c.824C> T (p.Thr275Met) single nucleotide variant Likely benign rs112404957 GRCh37 Chromosome 4, 9922187: 9922187
46 SLC2A9 NM_020041.2(SLC2A9): c.824C> T (p.Thr275Met) single nucleotide variant Likely benign rs112404957 GRCh38 Chromosome 4, 9920563: 9920563
47 SLC2A9 NM_020041.2(SLC2A9): c.681+13C> T single nucleotide variant Likely benign rs202000076 GRCh38 Chromosome 4, 9980579: 9980579
48 SLC2A9 NM_020041.2(SLC2A9): c.681+13C> T single nucleotide variant Likely benign rs202000076 GRCh37 Chromosome 4, 9982203: 9982203
49 SLC2A9 NM_020041.2(SLC2A9): c.666C> T (p.Pro222=) single nucleotide variant Likely benign rs139449249 GRCh38 Chromosome 4, 9980607: 9980607
50 SLC2A9 NM_020041.2(SLC2A9): c.666C> T (p.Pro222=) single nucleotide variant Likely benign rs139449249 GRCh37 Chromosome 4, 9982231: 9982231

Expression for Hypouricemia, Renal, 1

Search GEO for disease gene expression data for Hypouricemia, Renal, 1.

Pathways for Hypouricemia, Renal, 1

Pathways related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.7 SLC22A12 SLC2A9

GO Terms for Hypouricemia, Renal, 1

Cellular components related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 SLC22A12 SLC2A9

Biological processes related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 urate metabolic process GO:0046415 8.96 SLC22A12 SLC2A9
2 urate transport GO:0015747 8.62 SLC22A12 SLC2A9

Molecular functions related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.96 SLC22A12 SLC2A9
2 urate transmembrane transporter activity GO:0015143 8.62 SLC22A12 SLC2A9

Sources for Hypouricemia, Renal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....