• Gene id: 4436

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 (RE
• OMIM: 609309

Protein Summary

• Protein general information: P43246  
  • Name: DNA mismatch repair protein Msh2 (hMSH2) (MutS protein homolog 2)
  • Length: 934  
  • Mass: 104,743
• Sequence:

  MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNL
  QSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGV
  KMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILIT
  ERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYM
  KLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQT
  LQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKF
  QEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRV
  TCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLA
  QLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGK
  STYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDEL
  GRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQS
  FGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMS
  EENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT

• Structural information:
  • Interpro: IPR011184  IPR007695  IPR000432  IPR007861  IPR007696   IPR016151  IPR036187  IPR007860  IPR032642  IPR036678  IPR027417  
  • Prosite: PS00486
  • PDB: 2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ
  • PDBsum: 2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ
  • DIP: 35054
  • STRING: ENSP00000233146
• Other Databases: GeneCards:  MSH2  Malacards:  MSH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000403	Y-form DNA binding	IBA	molecular function
GO:0000404	heteroduplex DNA loop binding	IBA	molecular function
GO:0000406	double-strand/single-strand DNA junction binding	IBA	molecular function
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001701	in utero embryonic development	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 repair	IBA	biological process
GO:0006311	meiotic gene conversion	IBA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008340	determination of adult lifespan	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 segments	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 checkpoint	IBA	biological process
GO:0032137	guanine/thymine mispair binding	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 signaling pathway in response to DNA damage by p53 class mediator	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0045128	negative regulation of reciprocal meiotic recombination	IBA	biological process
GO:0045190	isotype switching	ISS	biological process
GO:0045190	isotype switching	IBA	biological process
GO:0045910	negative regulation of DNA recombination	ISS	biological process
GO:0045910	negative regulation of DNA recombination	IDA	biological process
GO:0051096	positive regulation of helicase activity	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	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 binding	IDA	molecular function
GO:0032137	guanine/thymine mispair binding	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 insertion binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	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 binding	IBA	molecular function
GO:0000406	double-strand/single-strand DNA junction binding	IBA	molecular function
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0002204	somatic recombination of immunoglobulin genes involved 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 repair	IEA	biological process
GO:0006302	double-strand break repair	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 recombination	IBA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008584	male gonad development	ISS	biological process
GO:0008630	intrinsic apoptotic signaling 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 segments	IEA	biological process
GO:0016447	somatic recombination of immunoglobulin gene segments	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 checkpoint	IEA	biological process
GO:0031573	intra-S DNA damage checkpoint	IBA	biological process
GO:0032137	guanine/thymine mispair binding	IEA	molecular function
GO:0032137	guanine/thymine mispair binding	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 signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0045128	negative regulation of reciprocal meiotic recombination	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 DNA recombination	IEA	biological process
GO:0045910	negative regulation of DNA recombination	ISS	biological process
GO:0045910	negative regulation of DNA recombination	IDA	biological process
GO:0051096	positive regulation of helicase activity	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	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 binding	IDA	molecular function
GO:0032137	guanine/thymine mispair binding	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 insertion binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	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 binding	IBA	molecular function
GO:0000406	double-strand/single-strand DNA junction binding	IBA	molecular function
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0000784	nuclear chromosome, telomeric 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 repair	IBA	biological process
GO:0006311	meiotic gene conversion	IBA	biological process
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0008022	protein C-terminus binding	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 segments	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 checkpoint	IBA	biological process
GO:0032137	guanine/thymine mispair binding	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 signaling pathway in response to DNA damage by p53 class mediator	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0045128	negative regulation of reciprocal meiotic recombination	IBA	biological process
GO:0045190	isotype switching	ISS	biological process
GO:0045190	isotype switching	IBA	biological process
GO:0045910	negative regulation of DNA recombination	ISS	biological process
GO:0045910	negative regulation of DNA recombination	IDA	biological process
GO:0051096	positive regulation of helicase activity	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	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 binding	IDA	molecular function
GO:0032137	guanine/thymine mispair binding	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 insertion binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0032405	MutLalpha complex binding	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05210	Colorectal cancer
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Cancer (head and neck)	GAD: 20438357
Cancer (pancreatic)	GAD: 19351817
Cancer (lung)	GAD: 18676680
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (Adenocarcinoma)	GAD: 19237629
Cancer (bladder)	GAD: 19237606
Cancer (gastric)	GAD: 19900449
Cancer (prostate)	GAD: 19723918
Cancer (leukemia)	GAD: 12912950
Cancer (colorectal)	GAD: 15520370
Cancer (endometrial)	GAD: 14961575
Cancer (stomach)	GAD: 14574163
Cancer (colon)	GAD: 8156592
Cancer	GAD: 18481196
Cancer (melanoma)	GAD: 19818066
Cancer (brain)	GAD: 20150366
Cancer (esophageal)	GAD: 20453000
Cancer (colon)	GAD: 17139886
Cancer (Hepatocellular)	GAD: 17350822
Cancer (Adenoma)	GAD: 18091433
Cancer (Renal cell)	GAD: 18325052
Cancer (ovarian)	GAD: 16774946
Cancer (lymphoma)	GAD: 18830263
Cancer (non-Hodgkin lymphoma)	GAD: 14580774
Cancer (breast)	GAD: 18950845
Lynch syndrome	GAD: 17224235
Muir-Torre syndrome	OMIM: 609309
Endometriosis	INFBASE: 24018808
Sertoli cell only syndrome (SCOS)	MIK: 12569174
Azoospermia	MIK: 12569174
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 12569174
Sertoli cell-only syndrome	MIK: 12569174

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
12569174	Azoospermia, Sertoli cell-only syndrome			61 (41 testicular failure patients, 20 controls)	Male infertility	MSH2 MLH1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881