• Gene id: 4318

Gene Summary

• Gene Symbol: MMP9   Gene   UCSC   Ensembl
• Aliases: CLG4B, GELB, MANDP2, MMP-9
• Gene name: matrix metallopeptidase 9
• Alternate names: matrix metalloproteinase-9, macrophage gelatinase, matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase), type V collagenase,
• Gene location: 20q13.12 (46008907: 46016560)     Exons: 13     NC_000020.11
• Gene summary(Entrez): Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as art
• OMIM: 120361

SNPs

rs3918242

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.46007337C>T
NC_000020.10   g.44635976C>T
NG_011468.1   g.3430C>T|SEQ=[C/T]|GENE=MMP9

Protein Summary

• Protein general information: P14780  
  • Name: Matrix metalloproteinase 9 (MMP 9) (EC 3.4.24.35) (92 kDa gelatinase) (92 kDa type IV collagenase) (Gelatinase B) (GELB) [Cleaved into: 67 kDa matrix metalloproteinase 9; 82 kDa matrix metalloproteinase 9]
  • Length: 707  
  • Mass: 78,458
  • Tissue specificity: Expressed by the liver; secreted in plasma (at protein level). {ECO
• Sequence:

  MSLWQPLVLVLLVLGCCFAAPRQRQSTLVLFPGDLRTNLTDRQLAEEYLYRYGYTRVAEMRGESKSLGPALLLLQ
  KQLSLPETGELDSATLKAMRTPRCGVPDLGRFQTFEGDLKWHHHNITYWIQNYSEDLPRAVIDDAFARAFALWSA
  VTPLTFTRVYSRDADIVIQFGVAEHGDGYPFDGKDGLLAHAFPPGPGIQGDAHFDDDELWSLGKGVVVPTRFGNA
  DGAACHFPFIFEGRSYSACTTDGRSDGLPWCSTTANYDTDDRFGFCPSERLYTQDGNADGKPCQFPFIFQGQSYS
  ACTTDGRSDGYRWCATTANYDRDKLFGFCPTRADSTVMGGNSAGELCVFPFTFLGKEYSTCTSEGRGDGRLWCAT
  TSNFDSDKKWGFCPDQGYSLFLVAAHEFGHALGLDHSSVPEALMYPMYRFTEGPPLHKDDVNGIRHLYGPRPEPE
  PRPPTTTTPQPTAPPTVCPTGPPTVHPSERPTAGPTGPPSAGPTGPPTAGPSTATTVPLSPVDDACNVNIFDAIA
  EIGNQLYLFKDGKYWRFSEGRGSRPQGPFLIADKWPALPRKLDSVFEERLSKKLFFFSGRQVWVYTGASVLGPRR
  LDKLGLGADVAQVTGALRSGRGKMLLFSGRRLWRFDVKAQMVDPRSASEVDRMFPGVPLDTHDVFQYREKAYFCQ
  DRFYWRVSSRSELNQVDQVGYVTYDILQCPED

• Structural information:
  • Protein Domains: Fibronectin (225-273)
    Fibronectin (283-331)
    Fibronectin (342-390)
  • Interpro: IPR000562  IPR036943  IPR000585  IPR036375  IPR018487   IPR018486  IPR013806  IPR033739  IPR024079  IPR028688  IPR001818  IPR021190  IPR021158  IPR006026  IPR002477  IPR036365  IPR036366  
  • Prosite: PS00546 PS00023 PS51092 PS00024 PS51642 PS00142
  • CDD: cd00062 cd00094 cd04278
  • PDB: 1GKC 1GKD 1ITV 1L6J 1LKG 2OVX 2OVZ 2OW0 2OW1 2OW2 4H1Q 4H2E 4H3X 4H82 4HMA 4JIJ 4JQG 4WZV 4XCT 5CUH 5I12 5TH6 5TH9 5UE3 5UE4
  • PDBsum: 1GKC 1GKD 1ITV 1L6J 1LKG 2OVX 2OVZ 2OW0 2OW1 2OW2 4H1Q 4H2E 4H3X 4H82 4HMA 4JIJ 4JQG 4WZV 4XCT 5CUH 5I12 5TH6 5TH9 5UE3 5UE4
  • DIP: 29518
  • STRING: ENSP00000361405
• Other Databases: GeneCards:  MMP9  Malacards:  MMP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	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:0005518	collagen binding	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0051549	positive regulation of keratinocyte migration	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:1900122	positive regulation of receptor binding	IDA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:2001258	negative regulation of cation channel activity	IDA	biological process
GO:2001268	negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	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:0005518	collagen binding	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0051549	positive regulation of keratinocyte migration	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:1900122	positive regulation of receptor binding	IDA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:2001258	negative regulation of cation channel activity	IDA	biological process
GO:2001268	negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	EXP	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	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:0005518	collagen binding	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0051549	positive regulation of keratinocyte migration	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:1900122	positive regulation of receptor binding	IDA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:2001258	negative regulation of cation channel activity	IDA	biological process
GO:2001268	negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04668	TNF signaling pathway
hsa04657	IL-17 signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04915	Estrogen signaling pathway
hsa04926	Relaxin signaling pathway
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05206	MicroRNAs in cancer
hsa05205	Proteoglycans in cancer
hsa05219	Bladder cancer
hsa05215	Prostate cancer
hsa05418	Fluid shear stress and atherosclerosis
hsa05161	Hepatitis B
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Cancer (Hepatocellular)	GAD: 18426080
Cancer (Squamous cell)	GAD: 18680431
Cancer (basal cell)	GAD: 19064570
Cancer (cervical)	GAD: 19906411
Cancer (stomach)	GAD: 15522165
Cancer (prostate)	GAD: 17175378
Cancer (penile)	KEGG: H00025
Cancer	GAD: 19906411
Cancer (lung)	GAD: 16061858
Cancer (leukemia)	GAD: 19074885
Cancer (melanoma)	GAD: 17346338
Cancer	GAD: 20360147
Cancer (glaucoma)	GAD: 18552608
Cancer (colorectal)	GAD: 16456793
Cancer (endometrial)	GAD: 16990034
Cancer (bladder)	GAD: 17473191
Cancer (oral)	GAD: 17498910
Cancer (nasopharyngeal)	GAD: 17599818
Cancer (brain)	GAD: 17502998
Cancer (ovarian)	GAD: 16278009
Cancer (esophageal)	GAD: 20453000
Cancer (uterine leiomyoma)	GAD: 16638593
Cancer (lymphoma)	GAD: 18636124
Cancer (breast)	GAD: 15609121
Brain ischemia	GAD: 18342317
Atrial fibrillation	GAD: 19665460
Abdominal aortic aneurysm	GAD: 15944607
Aortic aneurysm	GAD: 15944607
Cardiovascular disease	GAD: 12103254
Angina pectoris	GAD: 12205736
Carotid artery diseases	GAD: 16159601
Brain aneurysm	GAD: 15214991
Atherosclerosis	GAD: 11557670
Arterial stiffness	GAD: 16709939
Aneurysm	GAD: 17182940
Aortic stiffness	GAD: 17581602
Restenosis	GAD: 12082592
Peripheral vascular disease	GAD: 19435865
Ventricular dysfunction	GAD: 15084374
Atherosclerosis	GAD: 20827608
Hypertension	GAD: 20211160
Intrauterine growth retardation	GAD: 17367869
Behcet's disease	GAD: 20363273
Cleft defects	GAD: 20672350
Diabetic retinopathy	GAD: 18552985
Macular degeneration	GAD: 15834245
Glaucoma	GAD: 17110919
Glaucoma	GAD: 18552608
Glaucoma	GAD: 19633731
Exfoliation syndrome	GAD: 20808730
Macular degeneration	GAD: 15834245
Asthma	GAD: 16061701
Asthma	GAD: 16026590
Crohn's disease	GAD: 18634035
Rheumatoid arthritis	GAD: 16356191
Sjogren's syndrome	GAD: 15316122
Sjogren's syndrome	GAD: 15316122
Multiple sclerosis	GAD: 12127674
Multiple sclerosis	GAD: 15223247
Multiple sclerosis	GAD: 18563468
Multiple sclerosis	GAD: 18835646
Multiple sclerosis	GAD: 19631393
Multiple sclerosis	GAD: 19628284
Rheumatoid arthritis	GAD: 19504098
Rheumatoid arthritis	GAD: 16356191
Scleroderma	GAD: 20110530
Periodontitis	GAD: 15691353
Periodontitis	GAD: 16945027
Periodontitis	GAD: 17076610
Periodontitis	GAD: 17448043
Multiple sclerosis	GAD: 12127674
Systemic lupus erythematosus (SLE)	GAD: 18571010
Systemic lupus erythematosus (SLE)	GAD: 18571010
Asthma	GAD: 16631427
Crohn's disease	GAD: 17589947
Asthma	GAD: 16026590
Crohn's disease	GAD: 17589947
Diabetes	GAD: 11576356
Diabetes	GAD: 19933990
Diabetes	GAD: 11576356
Osteoarthritis	GAD: 18802702
Osteoarthritis	GAD: 18802702
Spinal diseases	GAD: 19444758
Spinal diseases	GAD: 19444758
Bone diseases	GAD: 14767860
Epilepsy	GAD: 20605480
Moyamoya disease	GAD: 20948207
Stroke	GAD: 14605329
Giant cell arteritis	GAD: 18512818
Subarachnoid hemorrhage	GAD: 11546917
Apoplexy	GAD: 20222942
Guillain-Barre syndrome	GAD: 17761309
Alzheimer's disease	GAD: 15748780
Alzheimer's disease	GAD: 19141999
Amyotrophic lateral sclerosis (ALS)	GAD: 19484688
Amyotrophic lateral sclerosis (ALS)	GAD: 19484688
Alzheimer's disease	GAD: 17077200
Alzheimer's disease	GAD: 15748780
Spontaneous cervical artery dissection.	GAD: 14963289
Dementia	GAD: 14550924
Bipolar disorder	GAD: 19536654
Cognitive function	GAD: 19461556
Bipolar disorder	GAD: 19536654
Schizophrenia	GAD: 19264454
Schizophrenia	GAD: 19264454
Psychological disorders	GAD: 14550924
Kidney diseases	GAD: 12830465
Kidney diseases	GAD: 19578796
Kidney diseases	GAD: 12830465
Fetal Membrane Rupture	GAD: 11994547
Endometriosis	GAD: 18554596
Preeclampsia	GAD: 17137622
Preeclampsia	GAD: 17137622
Preeclampsia	GAD: 18651887
Preterm birth risk	GAD: 11994547
Recurrent implantation failure (RIF)	INFBASE: 12615834
Endometriosis	INFBASE: 16635325
Genital endometriosis, Female infertility, Endometriosis	INFBASE: 25711032
Chronic endometritis	INFBASE: 16984109
Polycystic ovary syndrome (PCOS)	INFBASE: 19368130
Endometriosis	INFBASE: 18644593
Adenomyosis	INFBASE: 16837781
Ectopic endometriosis	INFBASE: 15733405
Leiomyoma	INFBASE: 14597251
Recurrent pregnancy loss (RPL)	INFBASE: 17156190
Successful implantation and pregnancy in human IVF	INFBASE: 15957997
Ovarian endometriosis	INFBASE: 16815388
Unexplained infertility	INFBASE: 12895377
Oligozoospermia	MIK: 25562173
Chorioamnionitis	GAD: 20452482
Adenomyosis	GAD: 16455621
Implantation failure	INFBASE: 12615834
Asthenozoospermia	MIK: 25562173
Endometriosis	INFBASE: 23979130
Female infertility	INFBASE: 23054355
Endometriosis	INFBASE: 22056701
Impaired reproduction	INFBASE: 18292822
Endometriosis	GAD: 16455621
Chronic obstructive pulmonary disease (COPD)	GAD: 15085249
Chronic obstructive pulmonary disease (COPD)	GAD: 16126934
Chronic obstructive pulmonary disease (COPD)	GAD: 15498369
Lung disease	GAD: 11875051
Chronic obstructive pulmonary disease (COPD)	GAD: 18619044
Chronic obstructive pulmonary disease (COPD)	GAD: 16676616
Chronic obstructive pulmonary disease (COPD)	GAD: 15085249
Connective tissue diseases	GAD: 19527514
Connective tissue diseases	GAD: 19527514
Gingivitis	GAD: 18930181
Gingivitis	GAD: 18930181
Bronchiectasis	GAD: 19188843
Myelopathy	GAD: 15465610
Bronchiectasis	GAD: 19188843
Metaphyseal dysplasias	KEGG: H00479
Emphysema	GAD: 11708786
Nephropathy	GAD: 11576356
Nephropathy	GAD: 11576356
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 21674046
Oligozoospermia	MIK: 25562173

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25562173	Normozoospermic, Oligozoospermic, Asthenozoospermic				Male infertility	MMP2 MMP9 TIMP-1 and TIMP-2
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881