Li-fraumeni syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Li-Fraumeni syndrome 524 CHEK2 Causal Pathogenic evidence from ClinVar - ClinVar
TP53 Causal Pathogenic evidence from ClinVar - ClinVar
CDKN2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MDM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Li-Fraumeni Syndrome C0085390 CHEK2 Causal Pathogenic evidence from ClinVar 10617473, 11298456, 11719428, 12049740, 15520402, 19338683, 21562711, 22419737, 27751358, 28779002 ClinVar
TP53 Causal Pathogenic evidence from ClinVar 1359493, 1467311, 1565143, 1565144, 1581912, 1591732, 1631137, 1679237, 1737852, 1918170, 1933902, 1978757, 2046748, 2259385, 2531845, 2554494, 2826609, 7565304, 7707106, 7732013, 7783166, 7881428, 7887414, 7966399, 7969167, 7978053, 7981076, 8023157, 8062826, 8075648, 8080050, 8099841, 8102535, 8118819, 8134126, 8164043, 8308926, 8425176, 8479749, 8527048, 8550239, 8639798, 8649785, 8825920, 8887616, 9047394, 9067756, 9150393, 9218725, 9242456, 9290701, 9301461, 9364015, 9407971, 9452042, 9525742, 9546439, 9572492, 9598730, 9627118, 9662334, 9667734, 9681828, 9704930, 9704931, 9766574, 9825943, 9839505, 10064694, 10229196, 10432928, 10484981, 10486318, 10519380, 10589545, 10713666, 10719737, 10864200, 10871862, 10922393, 10980596, 11051239, 11358831, 11370630, 11420676, 11429705, 11479205, 11896595, 11920959, 12007217, 12067251, 12209975, 12509279, 12610779, 12672316, 12695689, 12700230, 12725534, 12726864, 12826609, 12885464, 12917626, 14559903, 14584079, 14656244, 14673037, 15037740, 15381368, 15390294, 15 ClinVar
CDKN2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28592523, 29263814 -
MDM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23884452 -
Li-Fraumeni Syndrome 2 C1836482 CHEK2 Causal Pathogenic evidence from ClinVar 11719428, 29902706 ClinVar
LI-FRAUMENI SYNDROME 1 C1835398 TP53 Causal Pathogenic evidence from ClinVar 1565143, 1565144, 1591732, 1631137, 1978757, 7887414, 8829627, 9047394, 9067756, 9218725, 9242456, 9364015, 9667734, 9764816, 10864200, 10922393, 11139324, 11315715, 11370630, 11479205, 11494139, 11753428, 11896595, 12726864, 12826609, 12885464, 14559903, 15221755, 15390294, 15951970, 16033918, 16401470, 16494995, 16534790, 16551709, 16633321, 17311302, 17530187, 17606709, 17690113, 18208484, 18414213, 18511570, 18818522, 19012332, 19468865, 19556618, 19717094, 19881536, 20128691, 20471942, 20522432, 20575032, 20689556, 21059199, 21080251, 21192060, 21305319, 21343334, 21464421, 21552135, 21601526, 21626334, 21761402, 22233476, 22672556, 22733133, 22811390, 23161690, 23175693, 23334666, 23538418, 23792586, 24122735, 24556621, 24573247, 24677579, 25186627, 25433984, 25503501, 25584008, 25619955, 25787918, 25925845, 26014290, 26452166, 26484312, 26572807, 26681051, 26786923, 26845104, 26878390, 26911350, 27223487, 27374712, 27501770, 27663983, 28369373, 28477316 ClinVar
Li-Fraumeni-Like Syndrome C2675080 TP53 Causal Pathogenic evidence from ClinVar - ClinVar