UniProt ID | Protein Name | Source |
---|---|---|
Q14118 | Dystroglycan 1 |
HPO ID | HPO Term |
---|---|
HP:0000501 | Glaucoma |
HP:0000528 | Anophthalmia |
HP:0000541 | Retinal detachment |
HP:0000568 | Microphthalmia |
HP:0000587 | Abnormal optic nerve morphology |
HP:0000612 | Iris coloboma |
HP:0000648 | Optic atrophy |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
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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