| Disease ID | Source | Name | Description |
| 185500 | OMIM | Supravalvular aortic stenosis (SVAS) | Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. The disease is caused by variants affecting the gene represented in this entry. |
| 123700 | OMIM | Cutis laxa, autosomal dominant, 1 (ADCL1) | A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. The disease is caused by variants affecting the gene represented in this entry. |