Source: ALL

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: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.400 None 0 1
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1855191
Disease: Progressive leg bowing
Progressive leg bowing 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C4016643
Disease: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		disease 0.100 None 0 2
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0426901
Disease: Short leg
Short leg 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1865833
Disease: Flared, irregular rib ends
Flared, irregular rib ends 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0