MCID: MSM014
MIFTS: 58

Mismatch Repair Cancer Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Mismatch Repair Cancer Syndrome

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Aliases & Descriptions for Mismatch Repair Cancer Syndrome:

Name: Mismatch Repair Cancer Syndrome 49 11 45 67
Turcot Syndrome 45 22 47 24 65 67
Constitutional Mismatch Repair Deficiency Syndrome 51 67
Mismatch Repair Deficiency 45 67
Mmr Deficiency 45 67
Mmrcs 45 67
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 45
Cns Tumors with Familial Polyposis of the Colon 45
Adenomatous Polyposis Coli with Cns Tumors 22
Brain Tumor-Polyposis Syndrome 1 67
 
Brain Tumor-Polyposis Syndrome 45
Malignant Childhood Neoplasm 65
Childhood Cancer Syndrome 67
Glioma-Polyposis Syndrome 45
Childhood Cancer 47
Cmmr-D Syndrome 51
Btp1 Syndrome 67
Cmmrds 67
Btps1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
constitutional mismatch repair deficiency syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 276300
Orphanet51 252202
MedGen34 C0265325
MeSH36 D009386

Summaries for Mismatch Repair Cancer Syndrome

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OMIM:49 Constitutional mismatch repair deficiency is a rare childhood cancer predisposition syndrome with 4 main tumor types:... (276300) more...

MalaCards based summary: Mismatch Repair Cancer Syndrome, also known as turcot syndrome, is related to gastrointestinal system cancer and colonic disease, and has symptoms including weight loss, constipation and malabsorption. An important gene associated with Mismatch Repair Cancer Syndrome is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways are Deactivation of the beta-catenin transactivating complex and DNA damage_Role of Brca1 and Brca2 in DNA repair. Affiliated tissues include colon, brain and skin, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases:45 Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. it may be associated with familial adenomatous polyposis (fap) or lynch syndrome (also known as hereditary non-polyposis colorectal cancer or hnpcc). the molecular basis of most turcot syndrome is either a mutation in apc associated with fap or a mutation in one of the mismatch repair genes associated with lynch syndrome (mlh1 and pms2). the brain tumors in individuals with apc mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. turcot syndrome typically follows an autosomal dominant inheritance pattern. last updated: 8/29/2012

UniProtKB/Swiss-Prot:67 Mismatch repair cancer syndrome: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients.

Wikipedia:68 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Related Diseases for Mismatch Repair Cancer Syndrome

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Diseases related to Mismatch Repair Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 595)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal system cancer30.5APC, CTNNB1, MLH1
2colonic disease30.5APC, CTNNB1, MLH1
3intestinal disease30.3APC, CTNNB1, MLH1, MSH2
4anaplastic large cell lymphoma30.0MLH1, MSH2
5muir-torre syndrome29.9MLH1, MSH2, MSH6, PMS1, PMS2
6medulloblastoma29.9APC, CTNNB1, MYCN, PAX3
7small non-cleaved cell lymphoma29.9MLH1, MSH2, MSH6
8cell type cancer29.7APC, CTNNB1, MLH1
9adrenal carcinoma29.7CTNNB1, PTEN
10brain ependymoma29.5CTNNB1, MYCN, PTEN
11colorectal cancer28.9APC, CTNNB1, MLH1, MSH2, MSH6, PMS1
12breast cancer28.8APC, CTNNB1, MLH1, MSH2, MSH6, PTEN
13lynch syndrome10.6
14leukemia10.5
15brain cancer10.5
16brain tumor, childhood10.4
17familial adenomatous polyposis10.4
18gastric cancer10.4
19neurofibromatosis10.4
20glioblastoma10.4
21acute leukemia10.4
22lymphoblastic leukemia10.4
23burkitt lymphoma10.4
24lymphosarcoma10.4
25heart cancer10.4
26heart tumor10.4
27primary malignant lymphoma10.4
28adult heart tumor10.4
29adenomatous polyposis coli10.3
30astrocytoma10.3
31non-polyposis turcot syndrome10.3
32turcot syndrome with polyposis10.3
33leukemia, acute lymphoblastic10.3
34acute lymphoblastic leukemia, childhood10.3
35acute lymphocytic leukemia10.3
36lymphoid leukemia10.3
37bone cancer10.3
38heart tumor of the child10.3
39colorectal cancer 610.3
40colorectal cancer 210.3
41colorectal cancer 110.3
42endometrial cancer10.3
43malignant glioma10.3
44colon adenocarcinoma10.3
45colonic benign neoplasm10.3
46hemorrhoid10.3
47intestinal benign neoplasm10.3
48large intestine cancer10.3
49nutritional deficiency disease10.3
50ovarian cancer10.3

Graphical network of the top 20 diseases related to Mismatch Repair Cancer Syndrome:



Diseases related to mismatch repair cancer syndrome

Symptoms for Mismatch Repair Cancer Syndrome

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Symptoms by clinical synopsis from OMIM:

276300

Clinical features from OMIM:

276300

HPO human phenotypes related to Mismatch Repair Cancer Syndrome:

(show all 54)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 constipation hallmark (90%) HP:0002019
3 malabsorption hallmark (90%) HP:0002024
4 abdominal pain hallmark (90%) HP:0002027
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 glioma hallmark (90%) HP:0009733
7 neoplasm of the colon hallmark (90%) HP:0100273
8 seizures typical (50%) HP:0001250
9 muscular hypotonia typical (50%) HP:0001252
10 hypertonia typical (50%) HP:0001276
11 nausea and vomiting typical (50%) HP:0002017
12 migraine typical (50%) HP:0002076
13 increased intracranial pressure typical (50%) HP:0002516
14 attention deficit hyperactivity disorder typical (50%) HP:0007018
15 neoplasm of the rectum typical (50%) HP:0100743
16 visual impairment occasional (7.5%) HP:0000505
17 hallucinations occasional (7.5%) HP:0000738
18 visual field defect occasional (7.5%) HP:0001123
19 gait disturbance occasional (7.5%) HP:0001288
20 flexion contracture occasional (7.5%) HP:0001371
21 neurological speech impairment occasional (7.5%) HP:0002167
22 memory impairment occasional (7.5%) HP:0002354
23 developmental regression occasional (7.5%) HP:0002376
24 neoplasm of the pancreas occasional (7.5%) HP:0002894
25 neoplasm of the liver occasional (7.5%) HP:0002896
26 neuroblastoma occasional (7.5%) HP:0003006
27 paresthesia occasional (7.5%) HP:0003401
28 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
29 abnormal pyramidal signs occasional (7.5%) HP:0007256
30 neoplasm of the skin occasional (7.5%) HP:0008069
31 agnosia occasional (7.5%) HP:0010524
32 neoplasm of the skeletal system occasional (7.5%) HP:0010622
33 uterine neoplasm occasional (7.5%) HP:0010784
34 urinary tract neoplasm occasional (7.5%) HP:0010786
35 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
36 sarcoma occasional (7.5%) HP:0100242
37 amaurosis fugax occasional (7.5%) HP:0100576
38 ovarian neoplasm occasional (7.5%) HP:0100615
39 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
40 intestinal polyposis occasional (7.5%) HP:0200008
41 agenesis of corpus callosum rare (5%) HP:0001274
42 autosomal recessive inheritance HP:0000007
43 cafe-au-lait spot HP:0000957
44 axillary freckling HP:0000997
45 hypermelanotic macule HP:0001034
46 abnormality of the abdomen HP:0001438
47 leukemia HP:0001909
48 lymphoma HP:0002665
49 basal cell carcinoma HP:0002671
50 rhabdomyosarcoma HP:0002859
51 medulloblastoma HP:0002885
52 ependymoma HP:0002888
53 neuroblastoma HP:0003006
54 glioblastoma HP:0100843

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome

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Drugs for Mismatch Repair Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Capecitabineapproved, investigationalPhase 31179154361-50-960953
Synonyms:
(1-(5-Deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-carbamic acid pentyl ester
154361-50-9
158798-73-3
5'-Deoxy-5-fluoro-N-((pentyloxy)carbonyl)cytidine
5'-deoxy-5-fluoro-N-[(pentyloxy)carbonyl]cytidine
AC1L1U83
AC1Q4KU8
Ambap154361-50-9
C110904
C12650
C15H22FN3O6
CAPE
CAPECITABINE
CHEBI:31348
CHEMBL1773
CID60953
Capecitabin
Capecitabina
Capecitabine
Capecitabine (JAN/USAN/INN)
Capecitabine [USAN]
Capecitabinum
Capecitibine
Capiibine
Carbamic acid, (1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-, pentyl ester
Caxeta
 
D01223
DB01101
FT-0082472
HSDB 7656
LS-59070
MolPort-005-938-254
N(4)-Pentyloxycarbonyl-5'-deoxy-5-fluorocytidine
Pentyl 1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinecarbamate
Pentyl [1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-2-oxo-1,2-dihydropyrimidin-4-yl]carbamate
R-340
R340
RG-340
Ro 09-1978
Ro 09-1978/000
Ro-09-1978
Ro-09-1978/000
S1156_Selleck
UNII-6804DJ8Z9U
Xabine
Xeloda
Xeloda (TN)
Xeloda, Captabin, Capecitabine
ZINC03806413
capecitabina
capecitabine
capecitabinum
pentyl N-[1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-methyloxolan-2-yl]-5-fluoro-2-oxopyrimidin-4-yl]carbamate
2
FluorouracilapprovedPhase 3193751-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
3
AspirinapprovedPhase 397150-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
7 Select Adult Chewable Aspirin
7 Select Aspirin
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Adult Chewable Low Dose Aspirin
Adult Low Dose Aspirin
Adult Low Dose Aspirin Enteric Safety Coated
Adult Low Dose Enteric Coated Aspirin
Adult Low Strength Aspirin
Aloxiprimum
Asacard
Asagran
Asaphen
Asatard
Ascoden-30
Ascriptin Maximum Strength Buffered Aspirin
Ascriptin Regular Strength Buffered Aspirin
Aspalon
Aspec
Aspergum
Aspi-cor
Aspir Low
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin 81 Mg
Aspirin 81 Mg Low Dose
Aspirin Adult Low Dose
Aspirin Adult Low Strength
Aspirin Adult Low Strength Aspirin
Aspirin Adult low strength
Aspirin Chewable Low Dose
Aspirin Delayed Release
Aspirin EC
Aspirin EXTRA STRENGTH
Aspirin Ec
Aspirin Enteric
Aspirin Enteric Coated
Aspirin Enteric Coated Low Dose
Aspirin Enteric Safety Coated
Aspirin Enteric Safety-Coated
Aspirin Low Dose
Aspirin Low Dose Chewable
Aspirin Low Dose Enteric Coated
Aspirin Low Dose Safety Coated
Aspirin Low Strength
Aspirin Nsaid
Aspirin Regular Strength
Aspirin Regular Strength regular strength
Aspirin Regular strength
Aspirin Safety Coated
Aspirin Safety Coated Adult Low Dose
Aspirin Safety coated
Aspirin Thin coated
Aspirin [BAN:JAN]
Aspirin adult low dose
Aspirin adult low strength
Aspirin enteric safety coated
Aspirin low dose
Aspirin low dose chewable
Aspirin low dose enteric coated
Aspirin regular strength
Aspirina 03
Aspirine
Aspiring
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Advanced Aspirin Extra Strength
Bayer Advanced Aspirin Regular Strength
Bayer Aspirin 8 Hour
Bayer Aspirin Regimen Chewable Low Dose Aspirin Orange
Bayer Aspirin Regimen Regular Strength
Bayer Buffered
Bayer Chewable - Aspirin Regimen Low Dose Aspirin Cherry Flavored
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Fast Release
Bayer Genuine Aspirin
Bayer Low Dose
Bayer Plus
Bayer Plus Extra Strength
Bayer Womens
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Buffered Aspirin
Bufferin
Bufferin LOW DOSE BUFFERED ASPIRIN
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Care One Aspirin
Cemirit
Chewable Adult Low Dose Aspirin
Chewable Aspirin
Chewable Low Dose Aspirin
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Critical Care Aspirin To Go
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dg Health Aspirin
Direct Safety Aspirin
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ec-81aspirin Enteric Coated
Ecolen
Ecotrin
Ecotrin Regular Strength
Empirin
Empirin with Codeine
Endosprin
Endydol
Enteric Aspirin
Enteric Coated Aspirin
Enteric Coated Aspirin Regular Strength
Enteric Coated Aspirin Regular strength
Enteric Coated Aspirin regular strength
Enteric Coated Asprin 81 Mg
Enteric Coated Low Dose Aspirin
 
Enteric Safety Coated Aspirin
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Equaline Aspirin
Equaline Aspirin adult low dose
Equate Aspirin
Equate Aspirin chewable
Extren
Fasprin
Flanax Aspirin Pain Reliever
Formucare Aspirin
Genuine Aspirin
Globentyl
Globoid
Good Neighbor Pharmacy Aspirin
Good Neighbor Pharmacy Aspirin Enteric Safety Coated
Good Neighbor Pharmacy Aspirin orange flavor chewable
Good Sense Aspirin
Good Sense Aspirin Enteric Safety Coated
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Handy Solutions Genuine Aspirin Bayer
Health Mart Aspirin
Health Mart Regular Strength Enteric Coated Aspirin
Health Sense Adult Chewable Low Strength Aspirin
Health Sense Aspirin 81
Health Sense Ecpirin
Healthy Accents Aspirin
Helicon
Henry Schein Aspirin
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kroger Value Aspirin
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Leader Aspirin
Leader Cardinal Health Aspirin
Leader Low Dose Aspirin
Levius
Lopac-A-5376
Lopac0_000038
Low Dose Adult Aspirin
Low Dose Aspirin
Low Dose Aspirin 81 Mg Safety Coated
Low Dose Aspirin Enteric Safety Coated
Low Dose Asprin
Low Dose Chewable Aspirin
Low Dose Miniprin Enteric Safety Coated
Low Dose Pain Relief Aspirin
Low Strength Chewable Aspirin
Low-dose Aspirin
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medi First Plus Aspirin
Medi-first Aspirin
Medique Aspirin
Medisyl
Micristin
Micro-coated Aspirin
Miniprin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
North Aspirin
Novasen
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Pain Relief Aspirin
Pain Relief Aspirin Low Dose
Persistin
Pharbest Aspirin 325mg
Pharbest Regular Strength Aspirin
Pharmacin
Pirseal
Plus Pharma NSAID 325 mg
Plus Pharma Nsaid Aspirin
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rapid Comfort Aspirin
Regular Strength Aspirin
Regular Strength Aspirin Ec
Regular Strength Buffered Aspirin
Regular Strength Enteric Aspirin
Regular Strength Enteric Coated Aspirin
Regular Strength Pain Relief
Regular Strength Tri-buffered Aspirin
Rexall Aspirin
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
Rugby Aspirin
Rx Act Aspirin
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Safety Coated Aspirin
Safety Coated Enteric Aspirin
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Smart Health Aspirin regular strength
Smart Sense Aspirin
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Solves - Aspirin Cherry
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
St. Joseph Chewable Aspirin
St. Joseph Safety Coated Aspirin
Sunmark Aspirin
Sunmark Aspirin Regular Strength
Sunmark Aspirin adult low strength
Sunmark Aspirin low dose
Supac
Tasprin
Temperal
Toldex
Topcare Aspirin
Tri-buffered Aspirin
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Uncoated Aspirin
Value Pharma Aspirin Pain Reliever
Value Pharmapain Reliever Extra Strength
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
Zee Aspirin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
4ColaNutraceuticalPhase 31690
5
NaproxenapprovedPhase 123322204-53-11302, 156391
Synonyms:
(+)-(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(+)-(S)-Naproxen
(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(+)-2-(Methoxy-2-naphthyl)-propionic acid
(+)-2-(Methoxy-2-naphthyl)-propionsaeure
(+)-2-(Methoxy-2-naphthyl)-propionsaeure [German]
(+)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(+)-Naproxen
(+)NAPROXEN
(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid
(S)-()-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-()-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-(+)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-(+)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-(+)-Naproxen
(S)-2-(6-Methoxy-2-naphthyl)propanoic acid
(S)-2-(6-Methoxy-2-naphthyl)propionic acid
(S)-6-Methoxy-.alpha.-methyl-2-naphthaleneacetic acid
(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid
(S)-Naproxen
2-(6-Methoxy-2-naphthyl)propionic acid
2-Naphthaleneacetic acid, 6-methoxy-alpha-methyl-, (+)- (8CI)
22204-53-1
284785_ALDRICH
46482_FLUKA
46482_RIEDEL
65126_FLUKA
AC-1363
AC1L4G3X
AC1Q4ET9
AC1Q4F4H
AC1Q4F4I
ARONIS24306
Acusprain
Aleve
Anaprox
Anax
Anexopen
Apo-Napro-NA
Apo-Naproxen
Apronax
Artagen
Arthrisil
Artrixen
Artroxen
Atiflan
Axer
BIDD:GT0062
BRD-K59197931-001-02-9
BRD-K59197931-236-09-6
BSPBio_002067
Bipronyl
Bonyl
CAS-22204-53-1
CCRIS 5265
CG 3117
CHEBI:7476
CHEMBL154
CID156391
Calosen
Clinosyn
Congex
D-Naproxen
DB08298
DL Naproxen
DL-Naproxen
Danaprox
Daprox
Diocodal
DivK1c_000242
Duk
Dysmenalgit
Dysmenalgit N
EINECS 244-838-7
Ec-Naprosyn
Ec-naprosyn
Equiproxen
Equiproxen (Veterinary)
FT-0082415
Flanax Forte
Flexen
Flexipen
Floginax
Fuxen
Genoxen
HMS1920P13
HMS2089N21
HMS2091H12
HMS500M04
HSDB 3369
Headlon
IDI1_000242
InChI=1/C14H14O3/c1-9(14(15)16)10-3-4-12-8-13(17-2)6-5-11(12)7-10/h3-9H,1-2H3,(H,15,16)/t9-/m0/s1
KBio1_000242
KBio2_001457
KBio2_004025
KBio2_006593
KBio3_001567
KBioGR_000597
KBioSS_001457
LS-124738
Laraflex
Lefaine
Leniartil
 
Lopac0_000792
M1021
Methoxypropiocin
MolPort-000-145-960
N8280_SIAL
NAPROXEN
NCGC00016759-01
NCGC00021127-01
NCGC00161591-01
NINDS_000242
NPS
Nafasol
Naixan
Nalyxan
Napflam
Napmel
Naposin
Napratec
Naprelan
Napren
Napren E
Naprius
Naprolag
Naprontag
Naprosin
Naprosyn
Naprosyn LLE
Naprosyn LLE Forte
Naprosyne
Naproxen
Naproxen Kit
Naproxen Sodium
Naproxen [USAN:BAN:INN:JAN]
Naproxen delayed release
Naproxen sodium
Naproxene
Naproxene [INN-French]
Naproxeno
Naproxeno [INN-Spanish]
Naproxenum
Naproxenum [INN-Latin]
Naproxi 250
Naproxi 500
Naproxène
Napxen
Narma
Narocin
Naxen
Naxen F
Naxopren
Naxyn
Naxyn 250
Naxyn 500
Noflam
Novonaprox
Nycopren
Opipramol
Patxen
Prafena
Prestwick0_000791
Prestwick1_000791
Prestwick2_000791
Prestwick_349
Prexan
Priaxen
Pronaxen
Proxen LE
Proxen LLE
RS 3540
RS-3540
Rahsen
Reuxen
Rheumaflex
Roxen
SPBio_000966
SPBio_002861
SPECTRUM1500425
SR-01000075977-3
STOCK1N-50633
Saritilron
Sinartrin
Sinton
Soproxen
Spectrum2_001043
Spectrum3_000514
Spectrum4_000069
Spectrum5_001327
Spectrum_000977
Sutolin
Sutony
TL8003659
Tohexen
Traumox
U-Ritis
UNII-57Y76R9ATQ
UPCMLD-DP001
UPCMLD-DP001:001
Velsay
Veradol
Vinsen
Xenar
d-2-(6'-Methoxy-2'-naphthyl)-propionsaeure
d-2-(6'-Methoxy-2'-naphthyl)-propionsaeure [German]
d-2-(6-Methoxy-2-naphthyl)propionic acid
d-Naproxen

Interventional clinical trials:

idNameStatusNCT IDPhase
1Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and OverRecruitingNCT02355379Phase 3
2Aspirin as a Cancer Preventive in Carriers of a Germline Pathological Mismatch Repair Gene Defect, Lynch SyndromeNot yet recruitingNCT02497820Phase 3
3Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch SyndromeRecruitingNCT02052908Phase 1
4Familial Cancer Registry and DNA BankRecruitingNCT02083224
5Adherence to Colon Cancer Screening (ACCS)RecruitingNCT02112747
6I-Scan For Colon Polyp Detection In HNPCCRecruitingNCT01823471
7Biomarkers in Samples From Patients With Endometrial CancerNot yet recruitingNCT01199250

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome

Genetic Tests for Mismatch Repair Cancer Syndrome

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Genetic tests related to Mismatch Repair Cancer Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome22 24 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome

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MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

33
Colon, Brain, Skin, Thyroid, Liver, Pancreas

Animal Models for Mismatch Repair Cancer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Mismatch Repair Cancer Syndrome:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9APC, CTNNB1, PAX3, PTEN
2MP:00053828.0APC, CTNNB1, MYCN, PAX3, PTEN
3MP:00053718.0APC, CTNNB1, MYCN, PAX3, PTEN
4MP:00053707.9APC, CTNNB1, MYCN, PAX3, PTEN
5MP:00053697.8APC, CTNNB1, MYCN, PAX3, PTEN
6MP:00053677.8APC, CTNNB1, MYCN, PAX3, PTEN
7MP:00053917.8APC, CTNNB1, MYCN, PAX3, PTEN
8MP:00053797.8APC, CTNNB1, MLH1, PAX3, PMS2, PTEN
9MP:00107717.5APC, CTNNB1, MLH1, MSH2, MSH6, PAX3
10MP:00053897.2APC, CTNNB1, MLH1, MYCN, PMS2, PTEN
11MP:00053816.9APC, CTNNB1, MLH1, MSH2, MYCN, PAX3
12MP:00053976.9APC, CTNNB1, MSH2, MYCN, PAX3, PMS2
13MP:00020066.7APC, CTNNB1, MLH1, MSH2, MSH6, PAX3
14MP:00053846.5APC, CTNNB1, MLH1, MSH2, MSH6, MYCN
15MP:00107686.5APC, CTNNB1, MLH1, MSH2, MSH6, MYCN
16MP:00053766.3APC, CTNNB1, MLH1, MSH2, MSH6, MYCN

Publications for Mismatch Repair Cancer Syndrome

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Articles related to Mismatch Repair Cancer Syndrome:

idTitleAuthorsYear
1
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. (23483711)
2013

Variations for Mismatch Repair Cancer Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Mismatch Repair Cancer Syndrome:

67
id Symbol AA change Variation ID SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Ser46IleVAR_066838

Clinvar genetic disease variations for Mismatch Repair Cancer Syndrome:

5 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
2MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
3MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
4MLH1MLH1, EX16DELdeletionPathogenic
5MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
6MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenic
7MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
8MSH2MSH2, EX1-6 DELdeletionPathogenic
9MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
10PMS2PMS2, 2002A-Gsingle nucleotide variantPathogenic
11PMS2PMS2, EX11-EX14 DEL/18-BP INSindelPathogenic
12MLH1NM_000249.3(MLH1): c.218T> G (p.Leu73Arg)single nucleotide variantPathogenicrs397514684GRCh37Chr 3, 37042456: 37042456
13MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenicrs587776705GRCh37Chr 2, 48030772: 48030774
14MSH6MSH6, TRP1024TERundetermined variantPathogenic
15MSH6MSH6, 3-BP DEL, NT3609deletionPathogenic
16MSH6NM_000179.2(MSH6): c.3633dupT (p.Val1212Cysfs)duplicationPathogenicrs587776706GRCh37Chr 2, 48032833: 48032833
17MSH6MSH6, 1-BP INS, 1596TinsertionPathogenic
18MSH6MSH6, 1-BP DEL, 3261CdeletionPathogenic
19MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
20MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenicrs267607990GRCh37Chr 2, 47703501: 47703501
21PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
22PMS2NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter)single nucleotide variantPathogenicrs63751422GRCh37Chr 7, 6026469: 6026469
23PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
24PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicrs587776715GRCh37Chr 7, 6027175: 6027175
25PMS2PMS2, 4-BP DEL, 2361CTTCdeletionPathogenic
26PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
27PMS2PMS2, 2-BP DEL, 2184TCdeletionPathogenic
28PMS2PMS2, LYS577FSstructural variantPathogenic
29PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
30PMS2PMS2, 20-BP INS, NT1169insertionPathogenic
31PMS2PMS2, 1-BP DEL, 182AdeletionPathogenic
32PMS2NM_000535.5(PMS2): c.219T> A (p.Cys73Ter)single nucleotide variantPathogenicrs121434630GRCh37Chr 7, 6043634: 6043634

Cosmic variations for Mismatch Repair Cancer Syndrome:

7 (show top 50)    (show all 213)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
111084TP53central nervous system,brain,glioma,NS3
244169TP53central nervous system,brain,glioma,NS3
344226TP53central nervous system,brain,glioma,NS3
443945TP53central nervous system,brain,glioma,NS3
510834TP53central nervous system,brain,glioma,NS3
643833TP53central nervous system,brain,glioma,NS3
711498TP53central nervous system,brain,glioma,NS3
810912TP53central nervous system,brain,glioma,NS3
910867TP53central nervous system,brain,glioma,NS3
1011066TP53central nervous system,brain,glioma,NS3
1144327TP53central nervous system,brain,glioma,NS3
1210645TP53central nervous system,brain,glioma,NS3
1344204TP53central nervous system,brain,glioma,NS3
1410731TP53central nervous system,brain,glioma,NS3
1510739TP53central nervous system,brain,glioma,NS3
1610808TP53central nervous system,brain,glioma,NS3
1744092TP53central nervous system,brain,glioma,NS3
1810758TP53central nervous system,brain,glioma,NS3
1911305TP53central nervous system,brain,glioma,NS3
2043606TP53central nervous system,brain,glioma,NS3
2110690TP53central nervous system,brain,glioma,NS3
2210863TP53central nervous system,brain,glioma,NS3
2310718TP53central nervous system,brain,glioma,NS3
2410742TP53central nervous system,brain,glioma,NS3
2543900TP53central nervous system,brain,glioma,NS3
2610790TP53central nervous system,brain,glioma,NS3
2744221TP53central nervous system,brain,glioma,NS3
2843708TP53central nervous system,brain,glioma,NS3
2943651TP53central nervous system,brain,glioma,NS3
3011059TP53central nervous system,brain,glioma,NS3
3110701TP53central nervous system,brain,glioma,NS3
3245368TP53central nervous system,brain,glioma,NS3
3344877TP53central nervous system,brain,glioma,NS3
3444613TP53central nervous system,brain,glioma,NS3
3511210TP53central nervous system,brain,glioma,NS3
3644271TP53central nervous system,brain,glioma,NS3
3745045TP53central nervous system,brain,glioma,NS3
3810667TP53central nervous system,brain,glioma,NS3
3910659TP53central nervous system,brain,glioma,NS3
4010771TP53central nervous system,brain,glioma,NS3
4143970TP53central nervous system,brain,glioma,NS3
426932TP53central nervous system,brain,glioma,NS3
4343923TP53central nervous system,brain,glioma,NS3
4410662TP53central nervous system,brain,glioma,NS3
4543739TP53central nervous system,brain,glioma,NS3
4610889TP53central nervous system,brain,glioma,NS3
4744525TP53central nervous system,brain,glioma,NS3
4810660TP53central nervous system,brain,glioma,NS3
4944571TP53central nervous system,brain,glioma,NS3
5011250TP53central nervous system,brain,glioma,NS3

Expression for genes affiliated with Mismatch Repair Cancer Syndrome

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Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome.

Pathways for genes affiliated with Mismatch Repair Cancer Syndrome

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GO Terms for genes affiliated with Mismatch Repair Cancer Syndrome

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Cellular components related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:003230110.5MSH2, MSH6
2cell projection membraneGO:003125310.2APC, CTNNB1
3catenin complexGO:001634210.1APC, CTNNB1
4beta-catenin destruction complexGO:003087710.1APC, CTNNB1
5MutLalpha complexGO:003238910.1MLH1, PMS1, PMS2
6nucleoplasmGO:00056547.0APC, CTNNB1, MLH1, MSH2, MSH6, PAX3
7nucleusGO:00056346.1APC, CTNNB1, MLH1, MSH2, MYCN, PAX3

Biological processes related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.4MLH1, MSH2
2meiotic mismatch repairGO:000071010.4MSH2, MSH6
3positive regulation of helicase activityGO:005109610.4MSH2, MSH6
4negative regulation of DNA recombinationGO:004591010.4MSH2, MSH6
5maintenance of DNA repeat elementsGO:004357010.4MSH2, MSH6
6determination of adult lifespanGO:000834010.3MSH2, MSH6
7cell fate specificationGO:000170810.1APC, CTNNB1
8positive regulation of epithelial cell differentiationGO:003085810.1APC, CTNNB1
9canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.1APC, CTNNB1
10regulation of osteoblast differentiationGO:004566710.1APC, CTNNB1
11regulation of cell differentiationGO:004559510.1APC, CTNNB1
12thymus developmentGO:004853810.1APC, CTNNB1
13regulation of osteoclast differentiationGO:004567010.1APC, CTNNB1
14regulation of epithelial cell differentiationGO:003085610.0APC, CTNNB1
15T cell differentiation in thymusGO:003307710.0APC, CTNNB1
16isotype switchingGO:00451909.9MLH1, MSH2, MSH6
17intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.8MLH1, MSH2, MSH6
18proximal/distal pattern formationGO:00099549.8APC, CTNNB1
19somatic recombination of immunoglobulin gene segmentsGO:00164479.8MLH1, MSH2, MSH6, PMS2
20somatic hypermutation of immunoglobulin genesGO:00164469.8MLH1, MSH2, MSH6, PMS2
21reciprocal meiotic recombinationGO:00071319.7MLH1, MSH2, MSH6
22canonical Wnt signaling pathwayGO:00600709.4APC, CTNNB1, PTEN
23mismatch repairGO:00062989.3MLH1, MSH2, MSH6, PMS1, PMS2
24DNA repairGO:00062819.2MLH1, MSH2, MSH6, PMS2
25cellular response to DNA damage stimulusGO:00069749.1APC, MLH1, MSH2, PMS2
26cell migrationGO:00164778.9APC, PAX3, PTEN
27heart developmentGO:00075078.8CTNNB1, PAX3, PTEN
28apoptotic processGO:00069158.3APC, CTNNB1, PAX3, PTEN

Molecular functions related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1MutSalpha complex bindingGO:003240710.5MLH1, PMS2
2guanine/thymine mispair bindingGO:003213710.4MSH2, MSH6
3single guanine insertion bindingGO:003214210.4MSH2, MSH6
4single thymine insertion bindingGO:003214310.4MSH2, MSH6
5oxidized purine DNA bindingGO:003235710.4MSH2, MSH6
6MutLalpha complex bindingGO:003240510.4MSH2, MSH6
7ADP bindingGO:004353110.3MSH2, MSH6
8four-way junction DNA bindingGO:000040010.1MSH2, MSH6
9DNA-dependent ATPase activityGO:000809410.1MSH2, MSH6
10cadherin bindingGO:004529610.0APC, CTNNB1
11double-stranded DNA bindingGO:00036909.6CTNNB1, MSH2, MSH6
12magnesium ion bindingGO:00002879.5MSH2, MSH6, PTEN
13single-stranded DNA bindingGO:00036979.3MLH1, MSH2, PMS1, PMS2
14mismatched DNA bindingGO:00309839.3MLH1, MSH2, MSH6, PMS1, PMS2
15ATPase activityGO:00168878.8MLH1, MSH2, MSH6, PMS1, PMS2
16DNA bindingGO:00036777.1CTNNB1, MSH2, MSH6, MYCN, PAX3, PMS1

Sources for Mismatch Repair Cancer Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet