UniProt | Protein Name |
---|---|
P48651 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylserine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
L-serine-phosphatidylethanolamine phosphatidyltransferase activity | ||
transferase activity |
|
|
L-serine-phosphatidylcholine phosphatidyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0070133 | autosomal recessive cutis laxa type IB | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB | |
DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080334 | aortic valve disease 2 |
HPO ID | HPO Term |
---|---|
HP:0001511 | Intrauterine growth retardation |
HP:0001545 | Anteriorly placed anus |
HP:0001582 | Redundant skin |
HP:0001804 | Hypoplastic fingernail |
HP:0001812 | Hyperconvex fingernails |
HP:0002007 | Frontal bossing |
HP:0002119 | Ventriculomegaly |
HP:0002120 | Cerebral cortical atrophy |
HP:0002342 | Intellectual disability, moderate |
HP:0002650 | Scoliosis |
Disease ID | Disease Name |
---|---|
ORPHA:2658 |
|
OMIM:151050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
109111002 | CYPCA76638 | ||
109111680 | CYPCA108823 | ||
103745843 | NANGA09110 | ||
116453888 | CORMO09228 | ||
103258557 | CARSF13033 | ||
115605249 | STRHB14415 |
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Last updated: August 19, 2024