Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.700 None 1.000 0 0 1998 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.440 None 1.000 0 0 2007 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease 0.330 None 1.000 0 0 2006 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.200 None 1.000 0 0 1998 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease 0.160 None 1.000 0 0 2002 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.150 None 1.000 0 0 2017 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.120 None 0.500 0 0 2008 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease 0.120 None 1.000 0 0 2009 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group 0.110 None 1.000 0 0 2009 2009
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0033999
Disease: Pterygium
Pterygium 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype 0.100 None 0 0