UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
phosphatidylinositol phospholipase C activity | ||
GTPase activator activity | ||
calmodulin binding | ||
identical protein binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102432706 | MYOLU17480 | ||
117015870 | RHIFE23989 | ||
100219122 | TAEGU22258 | ||
103246657 | CHLSB07727 | ||
108527553 | RHIBE23738 | ||
104668296 | RHIRO39075 | ||
100597115 | NOMLE02820 | ||
114593658 | PODMU16879 | ||
105299444 | PTEVA15633 | ||
115037695 | ECHNA30864 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024