UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dephosphorylation | ||
in utero embryonic development | ||
phosphatidylinositol dephosphorylation | ||
negative regulation of peptidyl-serine phosphorylation | ||
cellular response to cAMP |
GO Term | Evidence Code | PMID |
---|---|---|
vasopressin receptor activity | ||
lipid phosphatase activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000135 | Hypogonadism |
HP:0000252 | Microcephaly |
HP:0000486 | Strabismus |
HP:0000518 | Cataract |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000768 | Pectus carinatum |
HP:0001156 | Brachydactyly |
HP:0001167 | Abnormal finger morphology |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025