UniProt ID | Protein Name | Source |
---|---|---|
P04439 | HLA class I histocompatibility antigen, A alpha chain | |
P62736 | Actin, aortic smooth muscle | |
Q5XXA6 | Anoctamin-1 | |
Q63HN8 | E3 ubiquitin-protein ligase RNF213 |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0002119 | Ventriculomegaly |
HP:0001009 | Telangiectasia |
HP:0001250 | Seizure |
HP:0100659 | Abnormal cerebral vascular morphology |
HP:0000007 | Autosomal recessive inheritance |
HP:0011834 | Moyamoya phenomenon |
HP:0000006 | Autosomal dominant inheritance |
HP:0002326 | Transient ischemic attack |
HP:0004970 | Ascending tubular aorta aneurysm |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025