Alpha 1-antitrypsin deficiency

Disease Term Disease ID Gene Symbol Classification References Source
alpha 1-Antitrypsin Deficiency C0221757 SERPINA1 Causal Pathogenic evidence from ClinVar 1504305, 1608473, 1730596, 1889260, 1905728, 1967187, 2227940, 2240842, 2254451, 2339709, 2481421, 2539391, 2567291, 2606478, 2642408, 2700304, 2784123, 2786335, 2787118, 2788166, 2904702, 2989709, 3040726, 3257351, 3262617, 3264419, 3484754, 3485249, 3491442, 3496639, 3500183, 6306478, 6600898, 7045697, 7977369, 7980208, 8340361, 8358043, 8364536, 8520784, 8970361, 9070606, 9195389, 9569237, 9635295, 10194472, 10234508, 10954248, 11214903, 11334395, 11474657, 12034572, 12220457, 14522813, 14767073, 14985567, 15454649, 15486938, 15744045, 15949707, 15978931, 17559149, 17906067, 17964515, 18024524, 18340647, 18353624, 18515255, 19083091, 19437508, 19444872, 19654085, 19738092, 20981092, 21067581, 21228398, 21457231, 21474916, 21637600, 21752289, 21960536, 22016686, 22291048, 22426792, 22544422, 22723858, 22735536, 22912357, 22912729, 22933512, 22971141, 22975760, 23632999, 23837941, 23858502, 24055113, 24082139, 24183282, 24328305, 24428606, 24518491, 24713750, 24750955, 24969923, 25181470, 25391508, 25425243, ClinVar
Alpha-1-antitrypsin deficiency 60 SERPINA1 Causal Pathogenic evidence from ClinVar - ClinVar