GO Term | Evidence Code | PMID |
---|---|---|
substantia nigra development | ||
glycolytic process | ||
lactate metabolic process | ||
pyruvate metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
L-lactate dehydrogenase activity | ||
identical protein binding | ||
cadherin binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000989 | Pruritus |
HP:0001036 | Parakeratosis |
HP:0001787 | Abnormal delivery |
HP:0001919 | Acute kidney injury |
HP:0002046 | Heat intolerance |
HP:0002063 | Rigidity |
HP:0002151 | Increased circulating lactate concentration |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
Disease ID | Disease Name |
---|---|
OMIM:612933 |
|
ORPHA:284426 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
16828 | MGI:96759 | MOUSE56002 | ||
24533 | RGD:2996 | RATNO17946 | ||
30496 | ZFIN:ZDB-GENE-991026-5 | |||
45880 | FB:FBgn0001258 | |||
174798 | WB:WBGene00002262 | |||
281274 | BOVIN22945 | |||
380394 | Xenbase:XB-GENE-480612 | |||
394758 | Xenbase:XB-GENE-480608 | |||
398121 | Xenbase:XB-GENE-6251935 | |||
407245 | PIGXX17559 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024