Disease Term Disease ID Gene Symbol Classification References Source
ACNE INVERSA, FAMILIAL, 1 C4551962 NCSTN Causal Pathogenic evidence from ClinVar 20929727, 21412258, 21430701, 21495993, 22358060, 22622421 ClinVar
ACNE INVERSA, FAMILIAL, 3 C3151038 PSEN1 Causal Pathogenic evidence from ClinVar 7550356, 7596406, 8634712, 8910898, 9189043, 9196071, 9225696, 9384602, 9521418, 9680315, 10447269, 10468510, 11524469, 11684347, 11710891, 12493631, 15205973, 15776278, 16628450, 16897084, 17197420, 17288597, 17545141, 17553989, 18580586, 18797263, 20145736, 20484632, 20634584, 20929727, 21373759, 21559374, 22115042, 22312439, 22461631, 22503161, 22766738, 23028126, 23114514, 23843529, 24011544, 24217025, 24418614, 24773620, 24880964, 25174650, 25333068, 25471389, 25741723, 25921538, 26194182, 26923592, 27014058, 27073747, 27100199, 27100200, 27206484, 27777022, 27793474, 27930341, 28350801, 29316780 ClinVar