Alzheimer disease

Disease Term Disease ID Gene Symbol Classification References Source
Alzheimer disease type 1 C2931257 APP Causal Pathogenic evidence from ClinVar - ClinVar
Alzheimer Disease, Early Onset C0750901 APP Causal Pathogenic evidence from ClinVar 1303275, 1497677, 1671712, 1678058, 12192006, 12572668, 12746438, 12852432, 15365148, 15488330, 15590663, 15591071, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 16969627, 17239395, 17430250, 18583042, 19286555, 19363265, 19818510, 20111991, 20157255, 20640797, 21157020, 21209907, 21980910, 22507317, 23224319, 23827522, 25352456, 25714973, 25948718, 26402770, 26803359, 27117003, 28350801, 28448946, 29420472, 30279455, 30320580 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003 ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar 7596406, 15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946 ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar 9050898, 12925374, 16651627 ClinVar
A2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9697696, 9811940, 15023809 -
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21460840, 25807283 -
ABI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28714976 -
Alzheimer Disease, Late Onset C0494463 APP Causal Pathogenic evidence from ClinVar 1497677, 1671712, 1678058, 12192006, 12572668, 12746438, 12852432, 15590663, 15591071, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 16969627, 17239395, 17430250, 18583042, 19286555, 19818510, 20111991, 20157255, 20640797, 21157020, 21209907, 21980910, 22507317, 23827522, 25352456, 25714973, 27117003, 28448946, 29420472, 30320580 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003 ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar 7596406, 15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946 ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar 9050898, 12925374, 16651627 ClinVar
A2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9697696, 9811940, 15023809 -
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21460840, 25807283 -
ABI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28714976 -
Alzheimer`s Disease C0002395 APP Causal Pathogenic evidence from ClinVar 1302033, 1303239, 1303275, 1415269, 1465129, 1497677, 1671712, 1678058, 1908231, 1925564, 1944558, 7806491, 8267572, 8290042, 8476439, 8577393, 8810256, 8886002, 9328472, 9754958, 10097173, 10631141, 10656250, 10665499, 10677483, 10867787, 11063718, 11311152, 11441013, 11528419, 11978821, 12034808, 12192006, 12572668, 12746438, 12852432, 15201367, 15365148, 15590663, 15591071, 15668448, 15776278, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 16969627, 17239395, 17430250, 18583042, 19281847, 19286555, 19818510, 20111991, 20157255, 20228223, 20640797, 21157020, 21209907, 21335619, 21980910, 22507317, 23649480, 23827522, 24524897, 24650794, 24878480, 25138979, 25352456, 25714973, 26104569, 26402770, 27000221, 27117003, 27838006, 27858710, 28350801, 28448946, 29420472, 30320580 ClinVar
CSF1R Causal Pathogenic evidence from ClinVar - ClinVar
GRN Causal Pathogenic evidence from ClinVar - ClinVar
MAPT Causal Pathogenic evidence from ClinVar 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003 ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar 7596406, 15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946 ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar 9050898, 12925374, 16651627 ClinVar
VCP Causal Pathogenic evidence from ClinVar - ClinVar
A2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9697696, 9811940, 15023809 -
ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30805717 -
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21460840, 21460841, 23571587, 24162737, 25807283, 29777097, 30617256, 31473137 -
ABCA8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26830138 -
ABCB11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29274321 -
ABI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28714976 -
Alzheimer`s Disease, Focal Onset C0750900 APP Causal Pathogenic evidence from ClinVar 1497677, 1671712, 1678058, 12192006, 12572668, 12746438, 12852432, 15590663, 15591071, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 16969627, 17239395, 17430250, 18583042, 19286555, 19818510, 20111991, 20157255, 20640797, 21157020, 21209907, 21980910, 22507317, 23827522, 25352456, 25714973, 27117003, 28448946, 29420472, 30320580 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003 ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar 7596406, 15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946 ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar 9050898, 12925374, 16651627 ClinVar
A2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9697696, 9811940, 15023809 -
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21460840, 25807283 -
ABI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28714976 -
Early-onset autosomal dominant Alzheimer disease 1020 APP Causal Pathogenic evidence from ClinVar - ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar - ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar - ClinVar
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial Alzheimer Disease (FAD) C0276496 APP Causal Pathogenic evidence from ClinVar 1497677, 1671712, 1678058, 12192006, 12572668, 12746438, 12852432, 15590663, 15591071, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 16969627, 17239395, 17430250, 18583042, 19286555, 19818510, 20111991, 20157255, 20640797, 21157020, 21209907, 21980910, 22507317, 23827522, 25352456, 25714973, 27117003, 28448946, 29420472, 30320580 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003 ClinVar
PSEN1 Causal Pathogenic evidence from ClinVar 7596406, 15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946 ClinVar
PSEN2 Causal Pathogenic evidence from ClinVar 9050898, 12925374, 16651627 ClinVar
A2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9697696, 9811940, 15023809 -
ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21460840, 25807283, 27037229 -
ABI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28714976 -
Alzheimer disease, familial, type 3 C1843013 PSEN1 Causal Pathogenic evidence from ClinVar 7550356, 7596406, 7651536, 8634711, 8634712, 8733303, 8837617, 8910898, 9172170, 9189043, 9196071, 9225696, 9298817, 9384602, 9507958, 9521418, 9521423, 9680315, 9719376, 9831473, 9833068, 10025789, 10090481, 10200054, 10208579, 10439444, 10441572, 10447269, 10468510, 10533070, 10631141, 10644793, 11027672, 11524469, 11561050, 11568920, 11684347, 11701593, 11710891, 11796781, 11920851, 12048239, 12058025, 12370477, 12484344, 12493631, 12493737, 12552037, 15004326, 15122701, 15205973, 15364419, 15534188, 15534260, 15776278, 15851849, 16305624, 16344340, 16628450, 16752394, 16897084, 16959576, 17197420, 17288597, 17366635, 17428795, 17502474, 17545141, 17553989, 18430735, 18580586, 18797263, 19667325, 19797784, 20145736, 20164095, 20460383, 20484632, 20634584, 21335660, 21373759, 21501661, 21559374, 22115042, 22312439, 22461631, 22503161, 22529981, 22766738, 23028126, 23114514, 23123781, 23843529, 24011544, 24121961, 24217025, 24418614, 24495933, 24582897, 24773620, 24880964, 25174650, 25333068, 25394380, 25471 ClinVar
ALZHEIMER DISEASE 4 C1847200 PSEN2 Causal Pathogenic evidence from ClinVar 7638622, 7651536, 8986743, 9050898, 9384602, 10631141, 10732806, 14681895, 15663477, 16533963, 16752394, 16959576, 18833506, 18834536, 19073399, 20375137, 20457965, 20634584, 21234330, 21285369, 21544564, 22115042, 22249458, 22503161, 24704512, 24838186, 24844686, 24928124, 26166204 ClinVar
Alzheimer Disease 9 C1837149 ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NON RARE IN EUROPE: Alzheimer disease 238616 ABCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -