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:0003241 | External genital hypoplasia |
HP:0003298 | Spina bifida occulta |
HP:0003510 | Severe short stature |
HP:0003745 | Sporadic |
HP:0004279 | Short palm |
HP:0004322 | Short stature |
HP:0004437 | Cranial hyperostosis |
HP:0004482 | Relative macrocephaly |
HP:0005019 | Diaphyseal undertubulation |
HP:0005465 | Facial hyperostosis |
Disease ID | Disease Name |
---|---|
ORPHA:2658 |
|
OMIM:151050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
779154 | Xenbase:XB-GENE-6252982 | ||
108719355 | Xenbase:XB-GENE-17346603 | ||
100145636 | Xenbase:XB-GENE-6455449 | ||
101949650 | CHRPI06136 | ||
109320622 | CROPO00391 | ||
113439889 | PSETE11646 | ||
101804047 | ANAPP09534 | ||
100073865 | ORNAN20660 | ||
100413392 | CALJA14154 | ||
105586505 | CERAT23436 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024