GO Term | Evidence Code | PMID |
---|---|---|
substantia nigra development |
|
|
pyruvate metabolic process | ||
glycolytic process | ||
lactate metabolic process |
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050156 | idiopathic pulmonary fibrosis | |
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050646 | distal arthrogryposis | |
DOID:0050700 | cardiomyopathy | |
DOID:0050902 | medulloblastoma | |
DOID:0060058 | lymphoma | |
DOID:0060161 | Kennedy's disease | |
DOID:0070322 | childhood hepatocellular carcinoma | |
DOID:0070328 | adult hepatocellular carcinoma |
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 |
---|---|
ORPHA:284426 |
|
OMIM:612933 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174798 | WB:WBGene00002262 | ||
45880 | FB:FBgn0001258 | ||
100174998 | CIOIN04295 | ||
30496 | ZFIN:ZDB-GENE-991026-5 | ||
380394 | Xenbase:XB-GENE-480612 | ||
398121 | Xenbase:XB-GENE-6251935 | ||
394758 | Xenbase:XB-GENE-480608 | ||
101953234 | CHRPI16866 | ||
109321459 | CROPO08705 | ||
113440255 | PSETE11994 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024