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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612076
http://purl.bioontology.org/ontology/OMIM/612076
|
|---|---|
| Preferred Name | HYPOURICEMIA, RENAL, 2 |
| Synonyms |
GOUT2
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
UAQTL2
GOUT SUSCEPTIBILITY 2
RHUC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GOUT2
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
UAQTL2
GOUT SUSCEPTIBILITY 2
RHUC2
|
|---|---|
| prefLabel | HYPOURICEMIA, RENAL, 2
|
| Gene Symbol |
GLUT9
UAQTL2
SLC2A9
|
| Scope Statement | Both heterozygous and homozygous mutations have been reported [MISCELLANEOUS]
Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 9 gene (SLC2A9, 606142.0004) [MOLECULAR BASIS]
Some individuals may be clinically asymptomatic [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui |
T047
T033
|
| Gene Locus | 4p16-p15.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612076
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2677549
C2677551
C2677550
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |