Disease Term Disease ID Gene Symbol References
Alpers Syndrome (disorder) C0205710 POLG 25655951, 19307547, 17502560, 15349879, 25914719, 18546365, 19578034, 20153822, 22357363, 19566497, 18195149, 26735972, 20513108, 15929042, 20837862, 22000311, 18716558, 18828154, 22237560, 16634032, 20818383, 22494076, 15122711, 17426723, 20176107, 16621917, 21550804, 18487244, 27450679, 23665194, 21357833, 17088268, 21282586, 21305355, 20138553, 23921535, 17436221, 16177225, 22342071, 24508722, 15351195, 25286830, 18500570, 21704543, 16024923, 22616202, 29302508, 12825077, 21956653, 23448099, 11431686, 16545482, 15917273, 20883824, 23545419, 15689359, 18195151, 12872260, 16919951, 16401742, 16639411, 15477547, 19364868, 21670405, 20691285, 27604308, 25929793, 18585914, 12210792, 20185557, 24642831, 12707443, 21880868, 23783014, 22277967, 20142534, 22114710, 17923349, 14635118, 14745080, 19478085, 24725338, 22931735, 23446645, 22006280, 16368709, 20843780, 16957900, 26095671, 23446635, 16638794, 17980715, 25281868, 22189570, 21301859, 25129007
RLBP1
EDAR
PARS2 28077841, 29915213
FANCI