GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of autophagy | ||
positive regulation of mitochondrial fission | ||
positive regulation of transcription by RNA polymerase II | ||
negative regulation of vascular endothelial growth factor signaling pathway | ||
animal organ morphogenesis |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
collagen-containing extracellular matrix | ||
extracellular space | ||
lysosomal lumen |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular matrix structural constituent conferring compression resistance | ||
extracellular matrix binding | ||
protein binding | ||
glycosaminoglycan binding | ||
RNA binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
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:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080001 | bone disease | |
DOID:0080041 | hypochondroplasia | |
DOID:0080047 | pseudoachondroplasia | |
DOID:0080055 | achondrogenesis type IB | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000486 | Strabismus |
HP:0000501 | Glaucoma |
HP:0000529 | Progressive visual loss |
HP:0000613 | Photophobia |
HP:0001131 | Corneal dystrophy |
HP:0003623 | Neonatal onset |
HP:0007709 | Band-shaped corneal dystrophy |
HP:0011487 | Increased corneal thickness |
HP:0200020 | Corneal erosion |
Disease ID | Disease Name |
---|---|
OMIM:610048 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100079988 | ORNAN05913 | ||
103114556 | ERIEU08332 | ||
100405391 | CALJA44915 | ||
105572760 | CERAT43317 | ||
101866144 | MACFA04019 | ||
709933 | MACMU03728 | ||
105483740 | MACNE23852 | ||
101018003 | PAPAN40942 | ||
105545870 | MANLE16867 | ||
101133609 | GORGO05791 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024