Ataxia telangiectasia

Disease Term Disease ID Gene Symbol Classification References Source
Ataxia Telangiectasia C0004135 ATM Causal Pathogenic evidence from ClinVar 2212727, 2491181, 2557216, 7792600, 8589678, 8659541, 8665503, 8698354, 8755918, 8789452, 8797579, 8808599, 8845835, 8958160, 8968760, 9000145, 9043869, 9121450, 9150358, 9288106, 9334731, 9443866, 9450874, 9450906, 9463314, 9488043, 9497252, 9521587, 9537233, 9600235, 9682216, 9711876, 9781027, 9792409, 9792410, 9872980, 9887333, 10234507, 10330348, 10397742, 10425038, 10534763, 10677309, 10706620, 10817650, 10864201, 10873394, 10980530, 11298136, 11382771, 11505391, 11507241, 11507245, 11526498, 11606401, 11756177, 11756185, 11805335, 11830610, 11857346, 11889466, 12072877, 12195425, 12497634, 12552559, 12552566, 12637545, 12646636, 12655570, 12673797, 12697903, 12810666, 12815592, 12883528, 12969974, 14586414, 14695534, 14970866, 15039971, 15054841, 15101044, 15164409, 15174027, 15177039, 15279808, 15390180, 15498871, 15843990, 15880721, 15928302, 16014569, 16189143, 16238588, 16266405, 16380133, 16387360, 16411093, 16603769, 16832357, 16864838, 16941484, 16958054, 17001622, 17124347, 17376192, 17699107, 1 ClinVar
C11orf65 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2557216, 7792600, 8659541, 8698354, 8755918, 8797579, 8808599, 8845835, 9000145, 9334731, 9443866, 9450874, 9463314, 9488043, 9497252, 9521587, 9600235, 9711876, 9792409, 9872980, 9887333, 10234507, 10330348, 10397742, 10425038, 10534763, 10706620, 10817650, 10864201, 10873394, 10980530, 11298136, 11382771, 11505391, 11756177, 11756185, 11805335, 11830610, 11857346, 12195425, 12497634, 12552559, 12552566, 12646636, 12673797, 12697903, 12810666, 12815592, 12883528, 12969974, 14586414, 14970866, 15039971, 15054841, 15101044, 15174027, 15279808, 15390180, 15843990, 15880721, 15928302, 16238588, 16266405, 16380133, 16603769, 16864838, 16941484, 16958054, 17001622, 17124347, 17376192, 17910737, 17968022, 18321536, 18431795, 18497957, 18504682, 18560558, 18573109, 18575927, 18634022, 18807267, 18813293, 19404735, 19431188, 19535770, 19605768, 19691550, 19781682, 19823873, 20153123, 20346647, 20840352, 20966255, 21354641, 21445571, 21459046, 21665257, 21778326, 21787400, 21792198, 21833744, 21933854, 21965147, 22017 -
Ataxia-telangiectasia 100 ATM Causal Pathogenic evidence from ClinVar - ClinVar