Disease Term Disease ID Gene Symbol Classification References Source
Hereditary Nonpolyposis Colorectal Neoplasms C0009405 EPCAM Causal Pathogenic evidence from ClinVar 23462293, 24142340, 25701956, 28701297 ClinVar
MLH1 Causal Pathogenic evidence from ClinVar 1061282, 1756143, 7557107, 7728749, 7757073, 8128251, 8521398, 8566964, 8571956, 8574961, 8592341, 8630936, 8646682, 8776590, 8797773, 8872463, 8880570, 9032648, 9322509, 9377556, 9490293, 9697702, 9788388, 9833759, 10037723, 10200055, 10422993, 10480359, 10521294, 10534773, 10598809, 10612827, 10732761, 10777691, 10874307, 10923051, 10985134, 11112663, 11208710, 11291077, 11427529, 11429708, 11524701, 11555625, 11585727, 11606497, 11726306, 11781295, 11793442, 11920650, 11948175, 12067992, 12095971, 12112654, 12183410, 12200596, 12362047, 12373605, 12386821, 12419761, 12547705, 12624141, 12655562, 12655568, 12658575, 12799449, 12810663, 12891553, 14504054, 14512394, 14574010, 14635101, 14645426, 14756672, 14985405, 15139004, 15178966, 15235038, 15289847, 15300854, 15345113, 15365995, 15365996, 15475387, 15563510, 15613555, 15655560, 15713769, 15849733, 15855432, 15864295, 15872200, 15879014, 15926618, 15991306, 16034045, 16083711, 16116158, 16181381, 16216036, 16338176, 16341550, 16379545, 16395668, 16451135 ClinVar
MSH2 Causal Pathogenic evidence from ClinVar 1710317, 7585065, 7726159, 7874129, 7937795, 8062247, 8261515, 8566964, 8574961, 8581513, 8592341, 8640829, 8706033, 8776590, 8808596, 8872463, 9222765, 9311737, 9506527, 9718327, 9774676, 9777949, 10080150, 10196371, 10375096, 10404063, 10469597, 10480359, 10495924, 10612827, 10612836, 10713887, 10874307, 10978353, 10995807, 11112663, 11151427, 11304573, 11306449, 11385712, 11606497, 11772966, 11910346, 11920650, 12124176, 12132870, 12362047, 12386821, 12414824, 12454801, 12537652, 12624141, 12626904, 12658575, 12660027, 12702580, 14574162, 14756672, 14961575, 15075785, 15217520, 15222003, 15235030, 15235034, 15309712, 15342696, 15365995, 15655560, 15680406, 15713769, 15845562, 15849733, 15872200, 15926618, 15955785, 16034045, 16116158, 16142001, 16175654, 16311127, 16395668, 16451135, 16616355, 16807412, 17101317, 17189986, 17312306, 17348456, 17473388, 17505997, 17531815, 17569143, 17594722, 17601929, 17720936, 17939062, 18270343, 18289827, 18307539, 18383312, 18561205, 18566915, 18772310, 18781619, 188223 ClinVar
MSH6 Causal Pathogenic evidence from ClinVar 2059188, 7604264, 7604265, 9307272, 9354786, 9390556, 9774676, 9929971, 10508506, 10521294, 10537275, 10545954, 10612827, 11245474, 11586295, 11709755, 11807791, 12019211, 12376742, 12658575, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168, 15483016, 15837969, 15872200, 15952900, 16034045, 16237223, 16283884, 16360201, 16418736, 16464007, 16525781, 16616355, 16807412, 16885385, 17117178, 17199584, 17323113, 17453009, 17531815, 17718861, 17909073, 18269114, 18301448, 18389388, 18409202, 18417481, 18566915, 18625694, 18790734, 18809606, 19130300, 19324997, 19459153, 19698169, 19851887, 20007843, 20028993, 20379851, 20487569, 20587412, 20591884, 20682701, 21039432, 21056691, 21155762, 21520333, 21642682, 21836479, 21868491, 22006311, 22081473, 22102614, 22144684, 22250089, 22306203, 22495361, 22734033, 22949379, 23047549, 23263490, 23554159, 23621914, 23652311, 23729658, 23733757, 23990280, 24100870, 24323032, 24362816, 24440087, 24689082, 24728189, 24763289, 24933100, 25093288, 25110875, 25117503, 25 ClinVar
PMS2 Causal Pathogenic evidence from ClinVar 2440087, 7632227, 8072530, 9488480, 10037723, 10763829, 11574484, 11793442, 11897781, 12714694, 14756672, 15077197, 15872200, 15887099, 15887124, 16144131, 16338176, 16472587, 16507833, 16619239, 16873062, 17029773, 17567544, 17993636, 18273873, 18602922, 19039682, 19132747, 19283792, 19723918, 20176959, 20186688, 20205264, 20487569, 20533529, 20624957, 21204794, 21261604, 21376568, 21520333, 21618646, 22494821, 22577899, 22585707, 22608206, 22692065, 22918162, 23012243, 23709753, 24027009, 24130102, 24362816, 24689082, 24728189, 24763289, 24790682, 25006859, 25430799, 25512458, 25559809, 25691505, 25701956, 25850602, 25856668, 25871621, 25980754, 26110232, 26232782, 26247049, 26248088, 26318770, 26437257, 26681312, 26691941, 26720728, 26866578, 26895986, 26898890, 27001570, 27064304, 27273229, 27435373, 27476653, 27589204, 27696107, 28007021, 28365877, 28449805, 28503822, 28514183, 28640387, 28805995, 28874130 ClinVar
Colorectal Neoplasms C0009404 MLH1 Causal Pathogenic evidence from ClinVar 18497967, 18718023, 18949393 ClinVar
MSH2 Causal Pathogenic evidence from ClinVar 18949393 ClinVar
ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCA9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766, 23977225 -
ABCB10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCB11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCB5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294766 -
ABCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21544799, 22294766 -
ACKR3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22180778 -
ACOXL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24743840 -
ACTR1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31089142 -
ACTRT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31089142 -
ADH1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16332725 -
AKR1B10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17597105 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16094359, 25157968 -
ALDH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16332725 -
AMACR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17684125 -
Malignant neoplasm of large intestine C0346629 ACOXL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24743840 -
ACTR1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31089142 -
ACTRT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31089142 -