HNPCC1
MCID: LYN004
MIFTS: 58

Lynch Syndrome I (HNPCC1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lynch Syndrome I

MalaCards integrated aliases for Lynch Syndrome I:

Name: Lynch Syndrome I 57 29 55 6
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 57 13 73
Lynch Syndrome Ii 29 55 6
Hnpcc1 57 12 75
Colorectal Cancer, Hereditary, Nonpolyposis, Type 1 29 6
Lynch Syndrome 1 12 15
Fcc1 57 12
Colorectal Cancer, Hereditary Nonpolyposis, Type 1; Hnpcc1 57
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 40
Colorectal Cancer, Hereditary Nonpolyposis, Type 3 73
Colon Cancer, Familial Nonpolyposis, Type 1; Fcc1 57
Hereditary Nonpolyposis Colorectal Cancer Type 1 12
Hereditary Non-Polyposis Colorectal Cancer 1 75
Hereditary Non-Polyposis Colorectal Cancer 3 75
Hereditary Non-Polyposis Colon Cancer Type 2 73
Colon Cancer, Familial Nonpolyposis, Type 1 57
Familial Nonpolyposis Colon Cancer Type 1 12
Hereditary Nonpolyposis Colorectal Cancer 73
Lynch Cancer Family Syndrome 75
Lynch Syndrome Type Ii 75
Lynch Syndrome Type I 75
Lynch Syndrome 75
Hnpcc3 75
Coca1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (2p16)


HPO:

32
lynch syndrome i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 120435
Disease Ontology 12 DOID:0070271
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 363406005

Summaries for Lynch Syndrome I

UniProtKB/Swiss-Prot : 75 Hereditary non-polyposis colorectal cancer 1: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

MalaCards based summary : Lynch Syndrome I, also known as colorectal cancer, hereditary nonpolyposis, type 1, is related to muir-torre syndrome and colorectal cancer, hereditary nonpolyposis, type 5. An important gene associated with Lynch Syndrome I is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). The drugs Levonorgestrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and small intestine, and related phenotypes are colon cancer and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.

OMIM : 57 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see 608089), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series. Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient. The Muir-Torre syndrome (MRTES; 158320) is a form of Lynch syndrome II associated with sebaceous skin tumors. (120435)

Wikipedia : 76 Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic... more...

Related Diseases for Lynch Syndrome I

Diseases in the Lynch Syndrome family:

Lynch Syndrome I

Diseases related to Lynch Syndrome I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 muir-torre syndrome 32.1 PMS2 PMS1 MSH6 MSH2 MLH1
2 colorectal cancer, hereditary nonpolyposis, type 5 31.9 MSH6 MSH2 MLH1
3 colorectal cancer, hereditary nonpolyposis, type 7 31.9 MSH2 MLH1
4 colorectal cancer, hereditary nonpolyposis, type 4 31.7 PMS2 MSH2 MLH1
5 mismatch repair cancer syndrome 31.7 PMS2 PMS1 MSH6 MSH2 MLH1
6 colorectal cancer, hereditary nonpolyposis, type 2 31.5 USHBP1 MLH1 MCC
7 ovarian cancer 31.3 PMS1 MSH6 MSH2 MLH1 EPCAM BRCA2
8 endometrial cancer 30.5 PMS2 MSH6 MSH2 MLH1 BRCA2 BRCA1
9 familial adenomatous polyposis 30.5 MSH6 MSH2 MLH1 MCC
10 colorectal adenocarcinoma 30.3 MSH6 MSH2 MLH1
11 li-fraumeni syndrome 29.8 MLH1 BRCA2 BRCA1
12 hereditary breast ovarian cancer syndrome 29.7 MSH6 MLH1 BRCA2 BRCA1
13 lynch syndrome 29.4 PMS2 PMS1 MSH6 MSH2 MLH1 FBXO11
14 colorectal cancer 29.2 PMS2 PMS1 MSH6 MSH2 MLH1 MCC
15 pancreatic cancer 11.3
16 gastric cancer 11.1
17 colorectal cancer, hereditary nonpolyposis, type 8 11.0
18 colorectal cancer, hereditary nonpolyposis, type 6 11.0
19 familial stomach cancer 11.0
20 adenocarcinoma 10.5
21 familial colorectal cancer 10.4
22 breast cancer 10.3
23 prostate cancer 10.3
24 lower lip cancer 10.2 MSH2 MLH1
25 spindle cell intraocular melanoma 10.2 PMS2 MLH1
26 anal fistula 10.2 MSH2 MLH1
27 attenuated familial adenomatous polyposis 10.2 MSH6 MSH2
28 colorectal cancer 5 10.2 MSH6 MLH1
29 leukodystrophy, hypomyelinating, 17 10.2 PMS2 AIMP2
30 gastric leiomyoma 10.2 MSH6 MLH1
31 adenoma 10.2
32 melanocytic nevus syndrome, congenital 10.2 MSH2 MLH1
33 childhood kidney cell carcinoma 10.2 MSH2 MLH1
34 legius syndrome 10.2 MSH6 MSH2
35 familial colorectal cancer type x 10.2
36 skin benign neoplasm 10.2 MSH6 MSH2 MLH1
37 ovarian cancer 1 10.1
38 thyroid cancer 10.1
39 mutyh-associated polyposis 10.1
40 breast giant fibroadenoma 10.1 PMS2 BRCA2
41 appendix carcinoid tumor 10.1 PMS2 MSH6 MSH2 MLH1
42 adenosquamous colon carcinoma 10.1 PMS2 MSH6 MSH2 MLH1
43 sebaceous adenoma 10.1 PMS2 MSH6 MSH2 MLH1
44 tumor predisposition syndrome 10.1 PMS2 BRCA2
45 small intestine cancer 10.1 PMS2 MSH6 MSH2 MLH1
46 uterine anomalies 10.1 PMS2 MSH6 MSH2 MLH1
47 autosomal genetic disease 10.0 PMS2 MSH6 MSH2 MLH1
48 intestinal disease 10.0 PMS2 MSH6 MSH2 MLH1
49 bladder cancer 10.0
50 thyroid cancer, nonmedullary, 1 10.0

Graphical network of the top 20 diseases related to Lynch Syndrome I:



Diseases related to Lynch Syndrome I

Symptoms & Phenotypes for Lynch Syndrome I

Symptoms via clinical synopsis from OMIM:

57
Oncology:
nonpolyposis colon cancer

Misc:
up to 60% of cases


Clinical features from OMIM:

120435

Human phenotypes related to Lynch Syndrome I:

32
# Description HPO Frequency HPO Source Accession
1 colon cancer 32 HP:0003003

GenomeRNAi Phenotypes related to Lynch Syndrome I according to GeneCards Suite gene sharing:

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.65 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.65 EPCAM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.65 FBXO11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.65 BRCA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.65 BRCA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.65 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.65 EPCAM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.65 FBXO11 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.65 EPCAM BRCA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.65 EPCAM MSH2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.65 BRCA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.65 KIF5B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.65 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.65 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.65 PMS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.65 MSH2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.65 EPCAM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.65 MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.65 FBXO11 MSH2 BRCA1 KIF5B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.65 PMS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.65 BRCA1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.65 MSH2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.65 PMS2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.65 EPCAM FBXO11 MSH2 PMS2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.65 BRCA1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.65 EPCAM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.65 FBXO11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.65 EPCAM
29 Decreased homologous recombination repair frequency GR00151-A-1 10.15 BRCA1 USHBP1
30 Decreased homologous recombination repair frequency GR00151-A-2 10.15 BRCA1
31 Decreased homologous recombination repair frequency GR00236-A-1 10.15 BRCA1 BRCA2 USHBP1
32 Decreased homologous recombination repair frequency GR00236-A-2 10.15 BRCA1 BRCA2 USHBP1
33 Decreased homologous recombination repair frequency GR00236-A-3 10.15 BRCA1 BRCA2 USHBP1
34 Decreased viability GR00221-A-1 10.02 PMS1
35 Decreased viability GR00221-A-2 10.02 BRCA1 PMS1
36 Decreased viability GR00221-A-3 10.02 BRCA1
37 Decreased viability GR00301-A 10.02 BRCA1 MSH2 PMS1
38 Decreased viability GR00402-S-2 10.02 BRCA1 MSH2 PMS1
39 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS1
40 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2
41 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 BRCA1 BRCA2 MCC MSH2

MGI Mouse Phenotypes related to Lynch Syndrome I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 BRCA1 BRCA2 EPCAM FBXO11 KIF5B MLH1
2 cellular MP:0005384 10.01 BRCA1 BRCA2 EPCAM KIF5B MLH1 MSH2
3 digestive/alimentary MP:0005381 9.91 BRCA1 BRCA2 EPCAM FBXO11 MLH1 MSH2
4 immune system MP:0005387 9.86 BRCA1 BRCA2 EPCAM FBXO11 MLH1 MSH2
5 mortality/aging MP:0010768 9.65 AIMP2 BRCA1 BRCA2 EPCAM FBXO11 KIF5B
6 integument MP:0010771 9.63 BRCA1 BRCA2 FBXO11 MLH1 MSH2 MSH6
7 neoplasm MP:0002006 9.17 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS1

Drugs & Therapeutics for Lynch Syndrome I

Drugs for Lynch Syndrome I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levonorgestrel Approved, Investigational Phase 3,Phase 2 17489-40-6, 797-63-7 13109
2
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
3
Loperamide Approved Phase 3 53179-11-6 3955
4 Contraceptives, Oral Phase 3,Phase 2
5 Contraceptive Agents Phase 3,Phase 2
6 Cola Phase 3,Phase 2,Not Applicable
7 Antipyretics Phase 3
8 Analgesics Phase 3,Phase 1
9 Analgesics, Non-Narcotic Phase 3,Phase 1
10 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 1
11 Anti-Inflammatory Agents Phase 3,Phase 1
12 Fibrinolytic Agents Phase 3
13 Peripheral Nervous System Agents Phase 3,Phase 1
14 Antirheumatic Agents Phase 3,Phase 1
15 Cyclooxygenase Inhibitors Phase 3,Phase 1
16 Platelet Aggregation Inhibitors Phase 3
17 Antidiarrheals Phase 3
18 Gastrointestinal Agents Phase 3
19
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
20
Medroxyprogesterone acetate Approved, Investigational Phase 2 71-58-9
21
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
22
Norgestrel Approved Phase 2 6533-00-2 13109
23
Polyestradiol phosphate Approved Phase 2 28014-46-2
24 Estradiol valerate Approved, Investigational, Vet_approved Phase 2 979-32-8
25 Estradiol 17 beta-cypionate Phase 2
26 Hormones Phase 2
27 Estradiol 3-benzoate Phase 2
28 Hormone Antagonists Phase 2
29 Contraceptive Agents, Male Phase 2
30
Medroxyprogesterone Phase 2 520-85-4 10631
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
32 Antineoplastic Agents, Hormonal Phase 2
33 Estrogens Phase 2
34
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
35 Cyclooxygenase 2 Inhibitors Phase 1
36
Pancrelipase Approved, Investigational 53608-75-6
37
Metformin Approved 657-24-9 14219 4091
38
Secretin Approved 108153-74-8
39
Serine Approved, Nutraceutical 56-45-1 5951
40 Vitamins
41 pancreatin

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome Terminated NCT00566644 Phase 3
2 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3 Aspirin
3 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
4 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
5 Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
6 Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and Carriers Completed NCT00001693 Phase 1 Celecoxib (SC-58635)
7 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
8 Implementation of a New Strategy to Identify HNPCC Patients Unknown status NCT00141466 Not Applicable
9 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
10 Hypodontia and Ovarian Cancer Unknown status NCT01470235
11 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
12 The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC) Recruiting NCT01447199
13 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
14 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755 Not Applicable
15 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210 Not Applicable
16 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
17 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
18 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424 Not Applicable
19 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
20 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710 Not Applicable
21 Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome Completed NCT00898768 Early Phase 1
22 The GEOLynch Cohort Study Recruiting NCT03303833
23 Genetic Risk: Whether, When, and How to Tell Adolescents Recruiting NCT03421327
24 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
25 General Practitioners (GP) Involvement in Colorectal Cancer (CRC) Screening Completed NCT01364454 Early Phase 1
26 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
27 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
28 Combined Colon and Endometrial Cancer Screening in Women With HNPCC Completed NCT00510796
29 Ileal Pouch-Anal Anastomosis Registry Terminated NCT01026480

Search NIH Clinical Center for Lynch Syndrome I

Genetic Tests for Lynch Syndrome I

Genetic tests related to Lynch Syndrome I:

# Genetic test Affiliating Genes
1 Lynch Syndrome Ii 29 MLH1
2 Lynch Syndrome I 29 MSH2 PMS1
3 Colorectal Cancer, Hereditary, Nonpolyposis, Type 1 29

Anatomical Context for Lynch Syndrome I

MalaCards organs/tissues related to Lynch Syndrome I:

41
Colon, Skin, Small Intestine, Ovary, Brain, Uterus, Breast

Publications for Lynch Syndrome I

Articles related to Lynch Syndrome I:

# Title Authors Year
1
Hereditary nonpolyposis colorectal cancer (Lynch syndrome I) in a 15-year-old male. ( 22200794 )
2012
2
[Lynch syndrome I: a case report]. ( 18798480 )
2008
3
Hereditary non-polyposis colorectal cancer (Lynch syndrome I) in a 13 year old male. ( 8498922 )
1993
4
Hereditary nonpolyposis colon cancer: (Lynch syndrome I and II). A challenge for the clinician. ( 2538763 )
1989
5
Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II). ( 3366037 )
1988
6
Lynch syndrome II and Lynch syndrome I. ( 3980797 )
1985

Variations for Lynch Syndrome I

UniProtKB/Swiss-Prot genetic disease variations for Lynch Syndrome I:

75 (show top 50) (show all 69)
# Symbol AA change Variation ID SNP ID
1 MSH2 p.His46Gln VAR_004470 rs33946261
2 MSH2 p.Asn139Ser VAR_004472
3 MSH2 p.Asp167His VAR_004474 rs63750255
4 MSH2 p.Ala305Thr VAR_004476 rs63751454
5 MSH2 p.Arg524Pro VAR_004479 rs63751207
6 MSH2 p.Glu562Val VAR_004480 rs63750997
7 MSH2 p.Pro622Leu VAR_004482 rs28929483
8 MSH2 p.His639Tyr VAR_004483 rs28929484
9 MSH2 p.Gly674Ser VAR_004485 rs63750234
10 MSH2 p.Cys697Phe VAR_004486 rs63750398
11 MSH2 p.Ala834Thr VAR_004488 rs63750757
12 MSH2 p.Gly692Arg VAR_009250 rs63750232
13 MSH2 p.Cys697Arg VAR_009251 rs63750961
14 MSH2 p.Val161Asp VAR_012936 rs63750126
15 MSH2 p.Asp506Tyr VAR_012941 rs63750492
16 MSH2 p.Ala636Pro VAR_012944 rs63750875
17 MSH2 p.Met688Ile VAR_012945 rs63750790
18 MSH2 p.Lys845Glu VAR_013172 rs63750571
19 MSH2 p.Asn127Ser VAR_019234 rs17217772
20 MSH2 p.Val163Gly VAR_022670 rs63750214
21 MSH2 p.Asp660Gly VAR_022671 rs108530805
22 MSH2 p.Thr33Pro VAR_043738 rs63751107
23 MSH2 p.Leu93Phe VAR_043743 rs63751429
24 MSH2 p.Val102Ile VAR_043745 rs193922373
25 MSH2 p.Lys110Thr VAR_043746
26 MSH2 p.Gly162Arg VAR_043747 rs63750624
27 MSH2 p.Val163Asp VAR_043748 rs63750214
28 MSH2 p.Gly164Arg VAR_043749 rs63750582
29 MSH2 p.Leu173Pro VAR_043751 rs63750070
30 MSH2 p.Leu175Pro VAR_043752 rs63751291
31 MSH2 p.Leu187Pro VAR_043753 rs63751444
32 MSH2 p.Asp283Tyr VAR_043757 rs63750381
33 MSH2 p.Cys333Tyr VAR_043759 rs63750828
34 MSH2 p.Pro336Ser VAR_043761 rs63751062
35 MSH2 p.Pro349Leu VAR_043763 rs587779067
36 MSH2 p.Arg359Ser VAR_043764 rs63751617
37 MSH2 p.Lys393Met VAR_043765
38 MSH2 p.Met492Val VAR_043767
39 MSH2 p.Thr552Pro VAR_043768 rs63750838
40 MSH2 p.Asn583Ser VAR_043770 rs201118107
41 MSH2 p.Ala600Val VAR_043771 rs63751236
42 MSH2 p.Asp603Asn VAR_043772 rs63750657
43 MSH2 p.His639Arg VAR_043775 rs587779116
44 MSH2 p.Glu647Lys VAR_043776
45 MSH2 p.Tyr656His VAR_043777
46 MSH2 p.Ile679Thr VAR_043779
47 MSH2 p.Ser723Phe VAR_043781 rs63750794
48 MSH2 p.Met729Val VAR_043782
49 MSH2 p.Thr732Ile VAR_043783
50 MSH2 p.Glu749Lys VAR_043785 rs63751477

ClinVar genetic disease variations for Lynch Syndrome I:

6 (show top 50) (show all 1250)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) single nucleotide variant Pathogenic rs28929483 GRCh37 Chromosome 2, 47702269: 47702269
2 MSH2 NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) single nucleotide variant Pathogenic rs28929483 GRCh38 Chromosome 2, 47475130: 47475130
3 MSH2 MSH2, DEL 50 CODONS deletion Pathogenic
4 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 GRCh37 Chromosome 2, 47657020: 47657020
5 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 GRCh38 Chromosome 2, 47429881: 47429881
6 MSH2 NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh37 Chromosome 2, 47702319: 47702319
7 MSH2 NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh38 Chromosome 2, 47475180: 47475180
8 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh37 Chromosome 2, 47702190: 47702192
9 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh38 Chromosome 2, 47475051: 47475053
10 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh37 Chromosome 2, 47693857: 47693857
11 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh38 Chromosome 2, 47466718: 47466718
12 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh37 Chromosome 2, 47703613: 47703613
13 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh38 Chromosome 2, 47476474: 47476474
14 MSH2 NM_000251.2(MSH2): c.965G> A (p.Gly322Asp) single nucleotide variant Benign rs4987188 GRCh37 Chromosome 2, 47643457: 47643457
15 MSH2 NM_000251.2(MSH2): c.965G> A (p.Gly322Asp) single nucleotide variant Benign rs4987188 GRCh38 Chromosome 2, 47416318: 47416318
16 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh37 Chromosome 2, 47702310: 47702310
17 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh38 Chromosome 2, 47475171: 47475171
18 MSH2 MSH2, 24-BP INS insertion Pathogenic
19 MSH2 MSH2, EX1-6 DEL deletion Pathogenic
20 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic
21 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh37 Chromosome 3, 37056000: 37056000
22 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh38 Chromosome 3, 37014509: 37014509
23 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
24 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh38 Chromosome 3, 36996633: 36996633
25 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
26 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh38 Chromosome 3, 37047639: 37047641
27 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
28 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh38 Chromosome 3, 37040295: 37040302
29 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh37 Chromosome 3, 37081786: 37081793
30 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
31 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh38 Chromosome 3, 37020411: 37020411
32 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
33 MSH2 nsv513794 deletion Pathogenic
34 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
35 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh38 Chromosome 3, 37012098: 37012098
36 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
37 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh38 Chromosome 3, 36996701: 36996701
38 MLH1 NM_000249.3(MLH1): c.1852_1853delAAinsGC (p.Lys618Ala) indel Benign rs35502531 GRCh37 Chromosome 3, 37089130: 37089131
39 MLH1 NM_000249.3(MLH1): c.1852_1853delAAinsGC (p.Lys618Ala) indel Benign rs35502531 GRCh38 Chromosome 3, 37047639: 37047640
40 MLH1 NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly) single nucleotide variant Benign rs63751612 GRCh37 Chromosome 3, 37089011: 37089011
41 MLH1 NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly) single nucleotide variant Benign rs63751612 GRCh38 Chromosome 3, 37047520: 37047520
42 MLH1 MLH1, EX16DEL deletion Pathogenic
43 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
44 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
45 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh38 Chromosome 3, 37004444: 37004444
46 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
47 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh38 Chromosome 3, 37048562: 37048562
48 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
49 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh38 Chromosome 3, 37017521: 37017521
50 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh37 Chromosome 3, 37090446: 37090446

Cosmic variations for Lynch Syndrome I:

9 (show top 50) (show all 2148)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6962516 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9829C>T p.P3277S 16:72788447-72788447 5
2 COSM6966832 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.2230C>T p.H744Y 16:72957916-72957916 5
3 COSM4062699 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9812C>T p.T3271M 16:72788464-72788464 5
4 COSM6986820 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.7253C>T p.T2418I 16:72795429-72795429 5
5 COSM6934820 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.49G>A p.G17S 16:72960097-72960097 5
6 COSM6937946 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5886G>T p.E1962D 16:72796796-72796796 5
7 COSM4600074 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10826C>T p.S3609F 16:72787450-72787450 5
8 COSM6937948 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4817G>A p.S1606N 16:72797865-72797865 5
9 COSM6977172 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.308G>A p.R103H 16:72959838-72959838 5
10 COSM6943037 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6910C>T p.Q2304* 16:72795772-72795772 5
11 COSM6937945 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10403G>A p.R3468H 16:72787873-72787873 5
12 COSM3276825 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6608G>A p.R2203H 16:72796074-72796074 5
13 COSM6934510 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10573G>A p.G3525S 16:72787703-72787703 5
14 COSM1640552 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8849G>A p.R2950H 16:72793833-72793833 5
15 COSM6986819 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10015G>C p.E3339Q 16:72788261-72788261 5
16 COSM973504 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8029G>A p.E2677K 16:72794653-72794653 5
17 COSM6926924 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9964C>T p.Q3322* 16:72788312-72788312 5
18 COSM6986821 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.D51N 16:72959995-72959995 5
19 COSM6937947 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4880C>T p.A1627V 16:72797802-72797802 5
20 COSM6977171 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5645T>A p.I1882N 16:72797037-72797037 5
21 COSM6940397 YAP1 urinary tract,upper urinary tract,carcinoma,NS c.1086C>A p.F362L 11:102227553-102227553 5
22 COSM6937766 XRCC2 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.G51R 7:152649334-152649334 5
23 COSM6918440 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2668G>A p.A890T 2:61483946-61483946 5
24 COSM6940287 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.511C>A p.L171I 2:61499792-61499792 5
25 COSM3426578 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.3144G>T p.E1048D 2:61478892-61478892 5
26 COSM6934410 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2785G>A p.V929I 2:61482984-61482984 5
27 COSM96797 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1711G>A p.E571K 2:61492337-61492337 5
28 COSM6977141 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1525C>T p.H509Y 2:61492608-61492608 5
29 COSM6938112 XIAP urinary tract,upper urinary tract,carcinoma,NS c.1003G>T p.G335* 23:123891263-123891263 5
30 COSM6937846 WT1 urinary tract,upper urinary tract,carcinoma,NS c.263G>A p.C88Y 11:32434879-32434879 5
31 COSM248279 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.973C>T p.R325* 6:43780742-43780742 5
32 COSM6934796 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.1046C>T p.A349V 6:43780815-43780815 5
33 COSM166866 U2AF1 urinary tract,upper urinary tract,carcinoma,NS c.101C>T p.S34F 21:43104346-43104346 5
34 COSM4758150 TSHR urinary tract,upper urinary tract,carcinoma,NS c.1538C>T p.T513M 14:81143596-81143596 5
35 COSM6810255 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.745G>A p.V249I 16:2056740-2056740 5
36 COSM6973290 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.2246G>A p.R749Q 16:2072874-2072874 5
37 COSM6926906 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4805A>G p.E1602G 16:2086335-2086335 5
38 COSM6980451 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.3889G>A p.A1297T 16:2083700-2083700 5
39 COSM6945528 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.1712T>C p.L571P 16:2065631-2065631 5
40 COSM3711967 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4136C>T p.S1379L 16:2084358-2084358 5
41 COSM1674921 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2117G>A p.R706H 9:132903742-132903742 5
42 COSM6924245 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.555C>G p.Y185* 9:132921927-132921927 5
43 COSM6940384 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2781G>T p.K927N 9:132897455-132897455 5
44 COSM6983583 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1960C>T p.Q654* 9:132905618-132905618 5
45 COSM307636 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1546C>T p.Q516* 9:132906032-132906032 5
46 COSM264229 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.3184C>T p.R1062W 9:132896546-132896546 5
47 COSM6934816 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.463G>A p.A155T 16:2171593-2171593 5
48 COSM3387290 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.331G>A p.E111K 16:2170713-2170713 5
49 COSM6937936 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.565C>T p.R189W 16:2172280-2172280 5
50 COSM6973292 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.1867C>T p.R623W 16:2176169-2176169 5

Expression for Lynch Syndrome I

Search GEO for disease gene expression data for Lynch Syndrome I.

Pathways for Lynch Syndrome I

Pathways related to Lynch Syndrome I according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS2
2
Show member pathways
12.67 BRCA1 BRCA2 MLH1 MSH2 MSH6
3
Show member pathways
12.6 BRCA2 MLH1 MSH2 MSH6
4 12.57 BRCA2 MLH1 MSH2 MSH6
5
Show member pathways
12.43 BRCA1 BRCA2 MSH2 MSH6
6 12.27 BRCA1 BRCA2 MLH1 MSH2 MSH6
7 11.93 MLH1 MSH2 MSH6
8 11.92 BRCA1 BRCA2 MSH2 MSH6
9 11.81 MLH1 MSH2 PMS2
10 11.64 BRCA1 BRCA2 MLH1 PMS2
11
Show member pathways
11.54 BRCA1 BRCA2 MSH2 MSH6
12 11.42 BRCA1 MLH1 MSH2 MSH6
13 11.3 BRCA1 MSH2 MSH6
14 11.16 BRCA1 BRCA2 MLH1 MSH2 MSH6
15
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
16 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Lynch Syndrome I

Cellular components related to Lynch Syndrome I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.62 BRCA1 FBXO11 MLH1 MSH6
2 condensed chromosome GO:0000793 9.37 BRCA1 MLH1
3 lateral element GO:0000800 9.26 BRCA1 BRCA2
4 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
5 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
6 mismatch repair complex GO:0032300 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
7 nucleus GO:0005634 10.1 AIMP2 BRCA1 BRCA2 FBXO11 MCC MLH1

Biological processes related to Lynch Syndrome I according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.91 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS1
2 DNA repair GO:0006281 9.8 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS1
3 double-strand break repair GO:0006302 9.71 BRCA1 BRCA2 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.61 BRCA2 MSH2
5 response to X-ray GO:0010165 9.61 BRCA2 MSH2
6 negative regulation of DNA recombination GO:0045910 9.6 MSH2 MSH6
7 determination of adult lifespan GO:0008340 9.59 MSH2 MSH6
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA1 BRCA2
9 postreplication repair GO:0006301 9.58 BRCA1 MSH2
10 isotype switching GO:0045190 9.58 MLH1 MSH2 MSH6
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.57 MLH1 MSH2
12 positive regulation of helicase activity GO:0051096 9.56 MSH2 MSH6
13 pyrimidine dimer repair GO:0006290 9.55 MSH2 MSH6
14 replication fork arrest GO:0043111 9.52 MSH2 MSH6
15 maintenance of DNA repeat elements GO:0043570 9.51 MSH2 MSH6
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.5 MLH1 MSH2 MSH6
17 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MLH1 MSH2
18 chordate embryonic development GO:0043009 9.48 BRCA1 BRCA2
19 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.46 MLH1 MSH2 MSH6 PMS2
21 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MLH1 MSH2
22 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.35 BRCA1 BRCA2 MLH1 MSH2 MSH6
23 mismatch repair GO:0006298 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

Molecular functions related to Lynch Syndrome I according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.72 BRCA1 MLH1 MSH2 MSH6 PMS1
2 ATPase activity GO:0016887 9.63 KIF5B MLH1 MSH2 MSH6 PMS1 PMS2
3 damaged DNA binding GO:0003684 9.61 BRCA1 MSH2 MSH6
4 ADP binding GO:0043531 9.55 MSH2 MSH6
5 four-way junction DNA binding GO:0000400 9.51 MSH2 MSH6
6 MutLalpha complex binding GO:0032405 9.49 MSH2 MSH6
7 MutSalpha complex binding GO:0032407 9.48 MLH1 PMS2
8 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
9 guanine/thymine mispair binding GO:0032137 9.43 MLH1 MSH2 MSH6
10 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
11 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
12 single-stranded DNA binding GO:0003697 9.35 BRCA2 MLH1 MSH2 PMS1 PMS2
13 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
14 protein binding GO:0005515 10.31 AIMP2 BRCA1 BRCA2 EPCAM FBXO11 KIF5B
15 ATP binding GO:0005524 10 KIF5B MLH1 MSH2 MSH6 PMS1 PMS2

Sources for Lynch Syndrome I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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