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A repository for genes associated with endometriosis

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Gene id 4436
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol MSH2   Gene   UCSC   Ensembl
Aliases COCA1, FCC1, HNPCC, HNPCC1, LCFS2
Gene name mutS homolog 2
Alternate names DNA mismatch repair protein Msh2, hMSH2, mutS homolog 2, colon cancer, nonpolyposis type 1,
Gene location 2p21-p16.3 (47403066: 47634500)     Exons: 21     NC_000002.12
Gene summary(Entrez) This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
OMIM 609309

Protein Summary

Protein general information P43246  

Name: DNA mismatch repair protein Msh2 (hMSH2) (MutS protein homolog 2)

Length: 934  Mass: 104,743

Tissue specificity: Ubiquitously expressed. {ECO

Sequence MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNL
QSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGV
KMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILIT
ERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYM
KLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQT
LQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKF
QEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRV
TCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLA
QLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGK
STYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDEL
GRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQS
FGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMS
EENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT
Structural information
Interpro:  IPR011184 IPR007695 IPR000432 IPR007861 IPR007696 IPR016151 IPR007860 IPR032642 IPR027417
Prosite:   PS00486

Pfam:  
PF01624 PF05188 PF05192 PF05190 PF00488

PDB:  
2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ
PDBsum:   2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ

DIP:  
35054
MINT:   84789
STRING:   ENSP00000233146;
Other Databases GeneCards:  MSH2;  Malacards:  MSH2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000403 Y-form DNA binding
IBA molecular_function
GO:0000404 heteroduplex DNA loop bin
ding
IBA molecular_function
GO:0000406 double-strand/single-stra
nd DNA junction binding
IBA molecular_function
GO:0000710 meiotic mismatch repair
IBA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0003677 DNA binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006119 oxidative phosphorylation
IEA biological_process
GO:0006281 DNA repair
IDA biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
IGI biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IBA biological_process
GO:0006311 meiotic gene conversion
IBA biological_process
GO:0007050 cell cycle arrest
IEA biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0008022 protein C-terminus bindin
g
IPI molecular_function
GO:0008340 determination of adult li
fespan
IEA biological_process
GO:0008584 male gonad development
ISS biological_process
GO:0010165 response to X-ray
ISS biological_process
GO:0010165 response to X-ray
IBA biological_process
GO:0010224 response to UV-B
ISS biological_process
GO:0010224 response to UV-B
IBA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016446 somatic hypermutation of
immunoglobulin genes
IBA biological_process
GO:0016447 somatic recombination of
immunoglobulin gene segme
nts
ISS biological_process
GO:0019237 centromeric DNA binding
IEA molecular_function
GO:0019724 B cell mediated immunity
ISS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030183 B cell differentiation
ISS biological_process
GO:0031573 intra-S DNA damage checkp
oint
IBA biological_process
GO:0032137 guanine/thymine mispair b
inding
IMP molecular_function
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032302 MutSbeta complex
IDA cellular_component
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IBA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0043570 maintenance of DNA repeat
elements
IMP biological_process
GO:0045128 negative regulation of re
ciprocal meiotic recombin
ation
IBA biological_process
GO:0045190 isotype switching
ISS biological_process
GO:0045190 isotype switching
IBA biological_process
GO:0045910 negative regulation of DN
A recombination
ISS biological_process
GO:0045910 negative regulation of DN
A recombination
IDA biological_process
GO:0051096 positive regulation of he
licase activity
IDA biological_process
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0003690 double-stranded DNA bindi
ng
IDA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0016887 ATPase activity
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032139 dinucleotide insertion or
deletion binding
IDA molecular_function
GO:0032142 single guanine insertion
binding
IDA molecular_function
GO:0032143 single thymine insertion
binding
IDA molecular_function
GO:0032181 dinucleotide repeat inser
tion binding
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032405 MutLalpha complex binding
IDA molecular_function
GO:0043531 ADP binding
IDA molecular_function
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000403 Y-form DNA binding
IBA molecular_function
GO:0000404 heteroduplex DNA loop bin
ding
IBA molecular_function
GO:0000406 double-strand/single-stra
nd DNA junction binding
IBA molecular_function
GO:0000710 meiotic mismatch repair
IBA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0002204 somatic recombination of
immunoglobulin genes invo
lved in immune response
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006119 oxidative phosphorylation
IEA biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IDA biological_process
GO:0006298 mismatch repair
IEA biological_process
GO:0006298 mismatch repair
IEA biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
IGI biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006301 postreplication repair
IEA biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IEA biological_process
GO:0006302 double-strand break repai
r
IBA biological_process
GO:0006311 meiotic gene conversion
IBA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0007050 cell cycle arrest
IEA biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0008022 protein C-terminus bindin
g
IPI molecular_function
GO:0008340 determination of adult li
fespan
IEA biological_process
GO:0008584 male gonad development
IEA biological_process
GO:0008584 male gonad development
ISS biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IEA biological_process
GO:0010165 response to X-ray
IEA biological_process
GO:0010165 response to X-ray
ISS biological_process
GO:0010165 response to X-ray
IBA biological_process
GO:0010224 response to UV-B
IEA biological_process
GO:0010224 response to UV-B
ISS biological_process
GO:0010224 response to UV-B
IBA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016446 somatic hypermutation of
immunoglobulin genes
IEA biological_process
GO:0016446 somatic hypermutation of
immunoglobulin genes
IBA biological_process
GO:0016447 somatic recombination of
immunoglobulin gene segme
nts
IEA biological_process
GO:0016447 somatic recombination of
immunoglobulin gene segme
nts
ISS biological_process
GO:0016887 ATPase activity
IEA molecular_function
GO:0019237 centromeric DNA binding
IEA molecular_function
GO:0019724 B cell mediated immunity
IEA biological_process
GO:0019724 B cell mediated immunity
ISS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030183 B cell differentiation
IEA biological_process
GO:0030183 B cell differentiation
ISS biological_process
GO:0030983 mismatched DNA binding
IEA molecular_function
GO:0030983 mismatched DNA binding
IEA molecular_function
GO:0031573 intra-S DNA damage checkp
oint
IEA biological_process
GO:0031573 intra-S DNA damage checkp
oint
IBA biological_process
GO:0032137 guanine/thymine mispair b
inding
IEA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IMP molecular_function
GO:0032300 mismatch repair complex
IEA cellular_component
GO:0032301 MutSalpha complex
IEA cellular_component
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032302 MutSbeta complex
IDA cellular_component
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IEA biological_process
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IBA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0043570 maintenance of DNA repeat
elements
IMP biological_process
GO:0045128 negative regulation of re
ciprocal meiotic recombin
ation
IBA biological_process
GO:0045190 isotype switching
IEA biological_process
GO:0045190 isotype switching
ISS biological_process
GO:0045190 isotype switching
IBA biological_process
GO:0045910 negative regulation of DN
A recombination
IEA biological_process
GO:0045910 negative regulation of DN
A recombination
ISS biological_process
GO:0045910 negative regulation of DN
A recombination
IDA biological_process
GO:0051096 positive regulation of he
licase activity
IDA biological_process
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0003690 double-stranded DNA bindi
ng
IDA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0016887 ATPase activity
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032139 dinucleotide insertion or
deletion binding
IDA molecular_function
GO:0032142 single guanine insertion
binding
IDA molecular_function
GO:0032143 single thymine insertion
binding
IDA molecular_function
GO:0032181 dinucleotide repeat inser
tion binding
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032405 MutLalpha complex binding
IDA molecular_function
GO:0043531 ADP binding
IDA molecular_function
GO:0000403 Y-form DNA binding
IBA molecular_function
GO:0000404 heteroduplex DNA loop bin
ding
IBA molecular_function
GO:0000406 double-strand/single-stra
nd DNA junction binding
IBA molecular_function
GO:0000710 meiotic mismatch repair
IBA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0003677 DNA binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006281 DNA repair
IDA biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
IGI biological_process
GO:0006298 mismatch repair
IDA biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006298 mismatch repair
TAS biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IBA biological_process
GO:0006311 meiotic gene conversion
IBA biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0008022 protein C-terminus bindin
g
IPI molecular_function
GO:0008584 male gonad development
ISS biological_process
GO:0010165 response to X-ray
ISS biological_process
GO:0010165 response to X-ray
IBA biological_process
GO:0010224 response to UV-B
ISS biological_process
GO:0010224 response to UV-B
IBA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016446 somatic hypermutation of
immunoglobulin genes
IBA biological_process
GO:0016447 somatic recombination of
immunoglobulin gene segme
nts
ISS biological_process
GO:0019724 B cell mediated immunity
ISS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030183 B cell differentiation
ISS biological_process
GO:0031573 intra-S DNA damage checkp
oint
IBA biological_process
GO:0032137 guanine/thymine mispair b
inding
IMP molecular_function
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032301 MutSalpha complex
IDA cellular_component
GO:0032302 MutSbeta complex
IDA cellular_component
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IBA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0043570 maintenance of DNA repeat
elements
IMP biological_process
GO:0045128 negative regulation of re
ciprocal meiotic recombin
ation
IBA biological_process
GO:0045190 isotype switching
ISS biological_process
GO:0045190 isotype switching
IBA biological_process
GO:0045910 negative regulation of DN
A recombination
ISS biological_process
GO:0045910 negative regulation of DN
A recombination
IDA biological_process
GO:0051096 positive regulation of he
licase activity
IDA biological_process
GO:0000287 magnesium ion binding
IDA molecular_function
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0003690 double-stranded DNA bindi
ng
IDA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IDA molecular_function
GO:0016887 ATPase activity
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0030983 mismatched DNA binding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032137 guanine/thymine mispair b
inding
IDA molecular_function
GO:0032139 dinucleotide insertion or
deletion binding
IDA molecular_function
GO:0032142 single guanine insertion
binding
IDA molecular_function
GO:0032143 single thymine insertion
binding
IDA molecular_function
GO:0032181 dinucleotide repeat inser
tion binding
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032357 oxidized purine DNA bindi
ng
IDA molecular_function
GO:0032405 MutLalpha complex binding
IDA molecular_function
GO:0043531 ADP binding
IDA molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa01524  Platinum drug resistance
hsa05210  Colorectal cancer
hsa03430  Mismatch repair

Diseases

Associated diseases References
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Colorectal cancer KEGG: H00020, OMIM: 609309
Endometriosis PMID: 23213089
Muir-Torre syndrome OMIM: 609309
Ovarian cancer KEGG: H00027
Endometriosis INFBASE24018808
Primary gynecologic malignancies INFBASE23213089
Retinal function PMID: 12920342
Sertoli cell-only syndrome (SCOS) PMID: 12569174

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24018808 Endometrio
sis

67 ovarian endo
metrioid adenoc
arcinoma(35 ass
ociated with en
dometriosis, 32
without endome
triosis)
Beta-catenin
cyclin D1
BAF250a
PTEN
p53
WT1
Show abstract
23213089 Endometrio
sis
Ashken
azi Jew
ish

MSH2
Show abstract