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:0050429 | Hailey-Hailey disease | |
DOID:0060249 | scoliosis | |
DOID:0060320 | inguinal hernia | |
DOID:0060467 | humeroradial synostosis | |
DOID:0060762 | restrictive dermopathy | |
DOID:0060862 | mal de Meleda | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA |
HPO ID | HPO Term |
---|---|
HP:0000916 | Broad clavicles |
HP:0000944 | Abnormal metaphysis morphology |
HP:0000963 | Thin skin |
HP:0000965 | Cutis marmorata |
HP:0000973 | Cutis laxa |
HP:0001043 | Prominent scalp veins |
HP:0001156 | Brachydactyly |
HP:0001159 | Syndactyly |
HP:0001167 | Abnormal finger morphology |
HP:0001187 | Hyperextensibility of the finger joints |
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