MCID: CLR070
MIFTS: 44

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 malady

Genetic diseases (common), Cancer diseases categories

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Aliases & Descriptions for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 1 49 11 24 65
Hereditary Non-Polyposis Colorectal Cancer 1 67
Hereditary Non-Polyposis Colorectal Cancer 3 67
Hereditary Nonpolyposis Colorectal Cancer 65
Lynch Cancer Family Syndrome 67
 
Lynch Syndrome Type Ii 67
Lynch Syndrome Type I 67
Lynch Syndrome 67
Hnpcc3 67
Hnpcc1 67


Classifications:



External Ids:

OMIM49 120435
MeSH36 D003123

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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OMIM:49 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic... (120435) more...

MalaCards based summary: Colorectal Cancer, Hereditary Nonpolyposis, Type 1, also known as hereditary non-polyposis colorectal cancer 1, is related to intestinal disease and colorectal cancer, and has symptoms including autosomal dominant inheritanceand colon cancer. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1 is MSH2 (MutS Homolog 2), and among its related pathways are BRCA1 Pathway and Integrated Breast Cancer Pathway. Affiliated tissues include colon, skin and uterus, and related mouse phenotypes are cellular and tumorigenesis.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 1 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 175)
idRelated DiseaseScoreTop Affiliating Genes
1intestinal disease30.7MLH1, MSH2
2colorectal cancer30.5MLH1, MSH2, MSH6, PMS2
3female reproductive system disease29.8MLH1, MSH2, MSH6
4mismatch repair cancer syndrome29.8MLH1, MSH2, MSH6, PMS2
5gastrointestinal system disease29.8MLH1, MSH2, MSH6, PMS2
6muir-torre syndrome29.7MLH1, MSH2, MSH6, PMS2
7endometrial cancer10.8
8hereditary colorectal cancer10.7
9familial colorectal cancer10.6
10adenoma10.6
11colonic benign neoplasm10.6
12colonic disease10.6
13ovarian cancer10.6
14gastrointestinal system cancer10.6
15intestinal benign neoplasm10.6
16large intestine cancer10.6
17adult syndrome10.6
18nutritional deficiency disease10.6
19colorectal cancer 210.5
20colorectal adenoma10.5
21adenocarcinoma10.5
22familial adenomatous polyposis10.5
23breast cancer10.4
24colorectal cancer 110.4
25prostatitis10.4
26lynch syndrome10.4
27prostate cancer10.4
28hemorrhoid10.3
29pancreatitis10.3
30rectal disease10.3
31rectal neoplasm10.3
32uterine corpus cancer10.3
33familial colorectal cancer type x10.3
34pancreatic cancer10.2
35colorectal cancer 310.2
36n syndrome10.2
37gastric cancer10.2
38good syndrome10.2
39colon adenoma10.2
40colorectal adenocarcinoma10.2
41gastrointestinal adenoma10.2
42thyroiditis10.2
43wells syndrome10.2
44mlh1-related lynch syndrome10.2
45msh2-related lynch syndrome10.2
46msh6-related lynch syndrome10.2
47pms2-related lynch syndrome10.2
48tgbfr2-related lynch syndrome10.2
49epcam-related lynch syndrome10.2
50mlh3-related lynch syndrome10.2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:



Diseases related to colorectal cancer, hereditary nonpolyposis, type 1

Symptoms for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435

HPO human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 colon cancer HP:0003003

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 3, Phase 11820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
Oxaliplatinapproved, investigationalPhase 3127661825-94-35310940, 9887054, 6857599, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
 
Oxalatoplatin
Oxalatoplatinum
Oxaliplatin
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
3
leucovorinapprovedPhase 39221492-18-854575
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
(S)-Leucovorin
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinic acid
Folinic acid calcium salt
Folinic acid calcium salt USP27
Folinic acid-SF
Fusilev
 
L-Folinic acid
L-leucovorin
Leucal
Leucovorin
Leucovorin Calcium
Leucovorin calcium
Leucovorin folinic acid
Leucovorin sodium
Leukovorin
Levofolene
Levofolinic acid
Levoleucovorin
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
Wellcovorin
4
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
5
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
6
Folic Acidapproved, nutraceuticalPhase 3285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
7Vitamin B ComplexPhase 32775
8LevoleucovorinPhase 3659
9Immunoglobulin GPhase 3167
10Calcium, DietaryPhase 33529
11ColaNutraceuticalPhase 31690
12Folinic AcidNutraceuticalPhase 32498
13Vitamin B9NutraceuticalPhase 32851
14FolateNutraceuticalPhase 32851
15
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
16pancreatin839

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
2Aspirin as a Cancer Preventive in Carriers of a Germline Pathological Mismatch Repair Gene Defect, Lynch SyndromeNot yet recruitingNCT02497820Phase 3
3Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel AdenocarcinomaNot yet recruitingNCT02502370Phase 3
4Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CWCompletedNCT02113202Phase 1
5Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) PatientsCompletedNCT00582452
6Prevention of Ovarian Cancer in Women Participating in MammographyCompletedNCT01851109
7Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
8Ohio Colorectal Cancer Prevention InitiativeRecruitingNCT01850654
9Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
10Cancer Research Repository for Individuals With Cancer Diagnosis and High Risk Individuals.RecruitingNCT02012699
11Hypodontia and Ovarian CancerRecruitingNCT01470235

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Genetic test Affiliating Genes
1 Colorectal Cancer, Hereditary, Nonpolyposis, Type 124

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

33
Colon, Skin, Uterus, Ovary, Breast, Small intestine

Animal Models for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.9MLH1, MSH2, MSH6, PMS2
2MP:00020067.7MLH1, MSH2, MSH6, PMS2

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

67 (show all 61)
id Symbol AA change Variation ID SNP ID
1MSH2p.His46GlnVAR_004470rs33946261
2MSH2p.Asn139SerVAR_004472
3MSH2p.Ile145MetVAR_004473rs63750124
4MSH2p.Asp167HisVAR_004474
5MSH2p.Ala305ThrVAR_004476
6MSH2p.Arg524ProVAR_004479
7MSH2p.Glu562ValVAR_004480
8MSH2p.Pro622LeuVAR_004482rs28929483
9MSH2p.His639TyrVAR_004483rs28929484
10MSH2p.Gly674SerVAR_004485
11MSH2p.Cys697PheVAR_004486
12MSH2p.Ala834ThrVAR_004488
13MSH2p.Gly692ArgVAR_009250
14MSH2p.Cys697ArgVAR_009251
15MSH2p.Val161AspVAR_012936
16MSH2p.Ala636ProVAR_012944
17MSH2p.Met688IleVAR_012945rs63750790
18MSH2p.Lys845GluVAR_013172rs63750571
19MSH2p.Asn127SerVAR_019234rs17217772
20MSH2p.Val163GlyVAR_022670
21MSH2p.Asp660GlyVAR_022671
22MSH2p.Thr33ProVAR_043738
23MSH2p.Thr44MetVAR_043740
24MSH2p.Ala45ValVAR_043741
25MSH2p.Leu93PheVAR_043743
26MSH2p.Val102IleVAR_043745
27MSH2p.Lys110ThrVAR_043746
28MSH2p.Gly162ArgVAR_043747
29MSH2p.Val163AspVAR_043748
30MSH2p.Gly164ArgVAR_043749
31MSH2p.Leu173ProVAR_043751
32MSH2p.Leu175ProVAR_043752
33MSH2p.Leu187ProVAR_043753
34MSH2p.Asp283TyrVAR_043757
35MSH2p.Cys333TyrVAR_043759
36MSH2p.Pro336SerVAR_043761
37MSH2p.Pro349LeuVAR_043763
38MSH2p.Arg359SerVAR_043764
39MSH2p.Lys393MetVAR_043765
40MSH2p.Met492ValVAR_043767
41MSH2p.Thr552ProVAR_043768
42MSH2p.Asn583SerVAR_043770
43MSH2p.Ala600ValVAR_043771
44MSH2p.Asp603AsnVAR_043772
45MSH2p.His639ArgVAR_043775
46MSH2p.Glu647LysVAR_043776
47MSH2p.Tyr656HisVAR_043777
48MSH2p.Ile679ThrVAR_043779
49MSH2p.Ser723PheVAR_043781
50MSH2p.Met729ValVAR_043782
51MSH2p.Thr732IleVAR_043783
52MSH2p.Glu749LysVAR_043785
53MSH2p.Met813ValVAR_043786
54MSH2p.His839ArgVAR_043788
55MSH2p.Glu886GlyVAR_043793
56MSH2p.Lys931ThrVAR_043795
57MSH2p.Ala2ThrVAR_054511
58MSH2p.Gly162AlaVAR_054512
59MSH2p.Glu198GlyVAR_054513
60MSH2p.Gly674ArgVAR_067288
61MSH2p.Gly669ArgVAR_067761

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

5 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH2NM_000251.2(MSH2): c.2363_2364delCT (p.Thr788Serfs)deletionLikely pathogenicrs63750937GRCh38Chr 2, 47478424: 47478425
2MSH2NM_000251.2(MSH2): c.2304delA (p.Glu768Aspfs)deletionLikely pathogenicrs587783053GRCh38Chr 2, 47478365: 47478365
3MSH2NM_000251.2(MSH2): c.1271dupA (p.His424Glnfs)duplicationPathogenicrs587783055GRCh38Chr 2, 47429936: 47429936
4MSH6NM_000179.2(MSH6): c.1705_1706delTT (p.Phe569Hisfs)deletionPathogenicrs587783056GRCh38Chr 2, 47799688: 47799689
5MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
6MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
7MSH2MSH2, DEL 50 CODONSdeletionPathogenic
8MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
9MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
10MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
11MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenic, Pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
12MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
13MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
14MSH2MSH2, EX1-6 DELdeletionPathogenic
15MSH2nsv513794deletionPathogenic
16MSH2NG_007110.2: g.4247_24291del20045deletionPathogenicGRCh38Chr 2, 47402370: 47422414
17MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenic
18MSH2NM_000251.2(MSH2): c.475dupA (p.Arg159Lysfs)duplicationLikely pathogenicrs786204319GRCh38Chr 2, 47410202: 47410202
19MSH2NM_000251.2(MSH2): c.793-1_796delinsAAATTAAGAindelLikely pathogenicrs786204320GRCh37Chr 2, 47641407: 47641411
20MSH2NM_000251.2(MSH2): c.1278_1386+1deldeletionPathogenicGRCh38Chr 2, 47445549: 47445658
21MSH2NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter)single nucleotide variantPathogenicrs786204321GRCh37Chr 2, 47702388: 47702388
22MSH2NM_000251.2(MSH2): c.2459G> A (p.Gly820Asp)single nucleotide variantLikely pathogenicrs794729229GRCh38Chr 2, 47480696: 47480696
23MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
24MSH6NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter)single nucleotide variantPathogenicrs63749843GRCh37Chr 2, 48030588: 48030588
25MSH6NM_000179.2(MSH6): c.426G> A (p.Trp142Ter)single nucleotide variantPathogenicrs63750342GRCh37Chr 2, 48018231: 48018231
26MSH6NM_000179.2(MSH6): c.467C> G (p.Ser156Ter)single nucleotide variantPathogenicrs63749873GRCh37Chr 2, 48023042: 48023042
27MLH1NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter)single nucleotide variantPathogenicrs63751022GRCh37Chr 3, 37092014: 37092014
28MLH1NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs)duplicationPathogenicrs281864940GRCh37Chr 3, 37092027: 37092028
29MSH2NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter)single nucleotide variantPathogenicrs63750778GRCh37Chr 2, 47643501: 47643501
30MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicrs587776530GRCh37Chr 2, 47690240: 47690243
31MSH2NM_000251.2(MSH2): c.2005+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
32MSH2NM_000251.2(MSH2): c.2005+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs267607986GRCh37Chr 2, 47702410: 47702410
33MSH2NM_000251.2(MSH2): c.204delG (p.Pro69Argfs)deletionPathogenicrs63750199GRCh37Chr 2, 47630534: 47630534
34MSH2NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter)single nucleotide variantPathogenicrs63750636GRCh37Chr 2, 47703631: 47703631
35MSH2NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter)single nucleotide variantPathogenicrs63750849GRCh37Chr 2, 47707955: 47707955
36MSH2NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs)deletionPathogenicrs63751618GRCh37Chr 2, 47708009: 47708010
37MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255
38MSH2NM_000251.2(MSH2): c.943-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs12476364GRCh37Chr 2, 47643434: 47643434
39PMS2NM_000535.5(PMS2): c.1831dupA (p.Ile611Asnfs)duplicationPathogenicrs63750250GRCh37Chr 7, 6026565: 6026565
40PMS2NM_000535.5(PMS2): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenic, Pathogenicrs587779333GRCh37Chr 7, 6048650: 6048650
41PMS2NM_000535.5(PMS2): c.2113G> A (p.Glu705Lys)single nucleotide variantPathogenicrs267608161GRCh37Chr 7, 6022516: 6022516
42PMS2NM_000535.5(PMS2): c.2186_2187delTC (p.Leu729Glnfs)deletionLikely pathogenic, Pathogenicrs587779335GRCh37Chr 7, 6018315: 6018316

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 1.

Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4MSH2, MSH6
29.4MSH2, MSH6
3
Show member pathways
9.4MSH2, MSH6
4
Show member pathways
9.1MLH1, MSH2
5
Show member pathways
9.1MLH1, MSH2
6
Show member pathways
9.0MLH1, PMS2
78.6MLH1, MSH2, MSH6
88.6MLH1, MSH2, MSH6
98.6MLH1, MSH2, MSH6
108.6MLH1, MSH2, MSH6
11
Show member pathways
8.6MLH1, MSH2, MSH6
128.5MLH1, MSH2, PMS2
13
Show member pathways
8.0MLH1, MSH2, MSH6, PMS2
148.0MLH1, MSH2, MSH6, PMS2
15
Show member pathways
8.0MLH1, MSH2, MSH6, PMS2

GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:003230110.1MSH2, MSH6
2nuclear chromosomeGO:000022810.0MSH2, MSH6
3MutLalpha complexGO:00323899.6MLH1, PMS2
4nucleoplasmGO:00056548.0MLH1, MSH2, MSH6, PMS2

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:000071010.0MSH2, MSH6
2positive regulation of helicase activityGO:005109610.0MSH2, MSH6
3negative regulation of DNA recombinationGO:004591010.0MSH2, MSH6
4maintenance of DNA repeat elementsGO:004357010.0MSH2, MSH6
5determination of adult lifespanGO:00083409.8MSH2, MSH6
6somatic recombination of immunoglobulin genes involved in immune responseGO:00022049.7MLH1, MSH2
7isotype switchingGO:00451909.0MLH1, MSH2, MSH6
8intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.9MLH1, MSH2, MSH6
9reciprocal meiotic recombinationGO:00071318.7MLH1, MSH2, MSH6
10somatic recombination of immunoglobulin gene segmentsGO:00164478.6MLH1, MSH2, MSH6, PMS2
11somatic hypermutation of immunoglobulin genesGO:00164468.5MLH1, MSH2, MSH6, PMS2
12cellular response to DNA damage stimulusGO:00069748.5MLH1, MSH2, PMS2
13mismatch repairGO:00062988.5MLH1, MSH2, MSH6, PMS2
14DNA repairGO:00062817.7MLH1, MSH2, MSH6, PMS2

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:003213710.1MSH2, MSH6
2single guanine insertion bindingGO:003214210.1MSH2, MSH6
3single thymine insertion bindingGO:003214310.1MSH2, MSH6
4oxidized purine DNA bindingGO:003235710.1MSH2, MSH6
5MutLalpha complex bindingGO:003240510.1MSH2, MSH6
6ADP bindingGO:004353110.0MSH2, MSH6
7magnesium ion bindingGO:00002879.9MSH2, MSH6
8four-way junction DNA bindingGO:00004009.8MSH2, MSH6
9double-stranded DNA bindingGO:00036909.8MSH2, MSH6
10DNA-dependent ATPase activityGO:00080949.8MSH2, MSH6
11damaged DNA bindingGO:00036849.7MSH2, MSH6
12MutSalpha complex bindingGO:00324079.7MLH1, PMS2
13single-stranded DNA bindingGO:00036978.9MLH1, MSH2, PMS2
14mismatched DNA bindingGO:00309838.6MLH1, MSH2, MSH6, PMS2
15ATPase activityGO:00168878.2MLH1, MSH2, MSH6, PMS2
16ATP bindingGO:00055248.0MLH1, MSH2, MSH6, PMS2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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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