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 |
---|---|---|---|---|
113885957 | BOBOX00521 | |||
114598828 | PODMU08305 | |||
115606855 | STRHB10010 | |||
116816360 | CHEAB16316 | |||
118899114 | BALMU08960 | |||
122199935 | PANLE14898 | |||
122203842 | PANLE14898 | |||
123799501 | URSAM09262 | |||
127487657 | RABIT15118 | |||
129007679 | 9600_0:002d8a |
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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