| 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 |
- |