MMP2, matrix metallopeptidase 2, 4313

N. diseases: 628; N. variants: 23
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1850159
Disease: Widened metacarpal shaft
Widened metacarpal shaft
phenotype Finding 1 0.100 0
CUI: C1850158
Disease: Interphalangeal joint erosions
Interphalangeal joint erosions
phenotype Finding 1 0.100 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 32 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
Compression fracture of vertebral column
phenotype Pathologic Function 21 0.100 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 48 0.100 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal
phenotype Finding 6 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C1850160
Disease: Thin metacarpal cortices
Thin metacarpal cortices
phenotype Finding 2 0.100 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 30 0.100 0
CUI: C0221373
Disease: Claw hand
Claw hand
disease Congenital Abnormality 55 1 0.100 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 83 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C1854614
Disease: Metatarsal osteolysis
Metatarsal osteolysis
phenotype Finding 2 0.100 0
CUI: C1854610
Disease: Metacarpal osteolysis
Metacarpal osteolysis
phenotype Finding 2 0.100 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 83 0.100 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 82 0.100 0
CUI: C1850162
Disease: Thin metatarsal cortices
Thin metatarsal cortices
phenotype Finding 1 0.100 0
CUI: C1850161
Disease: Widened metatarsal shaft
Widened metatarsal shaft
phenotype Finding 6 0.100 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture
phenotype Finding 15 0.100 0
Congenital ear anomaly NOS (disorder)
group Congenital Abnormality 80 0.100 0
CUI: C1834118
Disease: Potato nose
Potato nose
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 82 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0