| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
COL4A1 collagen alpha-1(IV) chain isoform 1 preproprotein [KO: K06237]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00579 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) |
| H00877 | Brain small vessel disease |
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| Reference |
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| Authors |
Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P |
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| Title |
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. |
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| Journal |
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| Reference |
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| Authors |
Giau VV, Bagyinszky E, Youn YC, An SSA, Kim SY |
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| Title |
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. |
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| Journal |
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| Reference |
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| Authors |
Zenteno JC, Crespi J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT |
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| Title |
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. |
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| Journal |
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| LinkDB |
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