Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
58 | ACTA1 | actin alpha 1, skeletal muscle | |
59 | ACTA2 | actin alpha 2, smooth muscle | |
60 | ACTB | actin beta | |
70 | ACTC1 | actin alpha cardiac muscle 1 | |
71 | ACTG1 | actin gamma 1 | |
3105 | HLA-A | major histocompatibility complex, class I, A | |
55107 | ANO1 | anoctamin 1 | |
57674 | RNF213 | ring finger protein 213 | |
345651 | ACTBL2 | actin beta like 2 |
Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
11459 | Acta1 | actin alpha 1, skeletal muscle | |
11461 | Actb | actin, beta | |
11464 | Actc1 | actin, alpha, cardiac muscle 1 | |
11465 | Actg1 | actin, gamma, cytoplasmic 1 | |
11475 | Acta2 | actin alpha 2, smooth muscle, aorta | |
14964 | H2-D1 | histocompatibility 2, D region locus 1 | |
14972 | H2-K1 | histocompatibility 2, K1, K region | |
15006 | H2-Q1 | histocompatibility 2, Q region locus 1 | |
15007 | H2-Q10 | histocompatibility 2, Q region locus 10 | |
15013 | H2-Q2 | histocompatibility 2, Q region locus 2 |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0002119 | Ventriculomegaly |
HP:0001009 | Telangiectasia |
HP:0100659 | Abnormal cerebral vascular morphology |
HP:0001250 | Seizure |
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
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024