Disease Term Disease ID Gene Symbol Classification References Source
Alexander Disease C0270726 GFAP Causal Pathogenic evidence from ClinVar 1250985, 1941292, 11138011, 11567214, 11595337, 11867077, 12026242, 12034785, 12034796, 12368989, 12447932, 12581808, 12638020, 12944715, 12975300, 14550921, 14557587, 15030911, 15390001, 15465095, 15477559, 15675360, 15696488, 15732097, 15732098, 16168593, 16168595, 16217707, 16240361, 16505300, 16996408, 17043438, 17110673, 17156703, 17383133, 17438228, 17509491, 17629821, 17703343, 17805552, 17894839, 17934883, 17960815, 17985264, 18004641, 18054694, 18079314, 18217876, 18388212, 18402384, 18495313, 18581469, 18584981, 18653683, 18684770, 19128991, 19412928, 19418047, 19618846, 19672978, 20359319, 20562394, 20849398, 21041050, 21132324, 21165639, 21270471, 21533827, 21572052, 21822933, 21917775, 21987397, 22198646, 22302460, 22488673, 22566711, 22619055, 22818990, 23149175, 23185175, 23254569, 23364391, 23634874, 23706596, 23743246, 23903069, 23925719, 24045243, 24188966, 24306001, 24357685, 24427505, 24742911, 24896178, 29095329 ClinVar
Alexander disease type I 363717 GFAP Causal Pathogenic evidence from ClinVar - ClinVar
Alexander disease type II 363722 GFAP Causal Pathogenic evidence from ClinVar - ClinVar