UniProt | Protein Name |
---|---|
Q9UPQ8 |
|
A0A0S2Z597 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl monophosphate biosynthetic process | ||
dolichyl diphosphate biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110428 | dilated cardiomyopathy 1AA | |
DOID:0110429 | dilated cardiomyopathy 1H | |
DOID:0110430 | dilated cardiomyopathy 1G | |
DOID:0110431 | dilated cardiomyopathy 1I | |
DOID:0110432 | dilated cardiomyopathy 1NN | |
DOID:0110433 | dilated cardiomyopathy 1E | |
DOID:0110434 | dilated cardiomyopathy 1Z | |
DOID:0110435 | dilated cardiomyopathy 1GG | |
DOID:0110436 | dilated cardiomyopathy 1L | |
DOID:0110437 | dilated cardiomyopathy 1K |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000253 | Progressive microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000505 | Visual impairment |
HP:0000639 | Nystagmus |
HP:0000653 | Sparse eyelashes |
HP:0000729 | Autistic behavior |
HP:0000817 | Reduced eye contact |
HP:0000958 | Dry skin |
Disease ID | Disease Name |
---|---|
ORPHA:154 |
|
ORPHA:91131 |
|
OMIM:610768 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101033864 | SAIBB32656 | ||
101974633 | ICTTR18169 | ||
101606839 | JACJA23948 | ||
118285152 | SCOMX09886 | ||
102431835 | MYOLU14758 | ||
117031618 | RHIFE22229 | ||
100217598 | TAEGU06484 | ||
101810760 | FICAL06106 | ||
103239779 | CHLSB02986 | ||
108512825 | RHIBE17609 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024