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: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
phenotype Laboratory or Test Result 21 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: C1850160
Disease: Thin metacarpal cortices
Thin metacarpal cortices
phenotype Finding 2 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: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation
phenotype Finding 3 0.100 0
CUI: C0019572
Disease: Hirsutism
Hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 63 3 0.100 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 32 0.100 0
CUI: C1854610
Disease: Metacarpal osteolysis
Metacarpal osteolysis
phenotype Finding 2 0.100 0
CUI: C1854614
Disease: Metatarsal osteolysis
Metatarsal osteolysis
phenotype Finding 2 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Finding 194 2 0.100 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital Abnormality 129 4 0.100 0
CUI: C0155100
Disease: Peripheral opacity of cornea
Peripheral opacity of cornea
phenotype Finding 1 0.100 0
CUI: C0746926
Disease: Multiple, subcutaneous nodules
Multiple, subcutaneous nodules
disease Disease or Syndrome 64 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 367 9 0.100 0
CUI: C1862425
Disease: Prominent globes
Prominent globes
phenotype Finding 138 2 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
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 83 0.100 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 83 0.100 0
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy
disease Stomatognathic Diseases Disease or Syndrome 51 1 0.100 0