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: C1850161
Disease: Widened metatarsal shaft
Widened metatarsal shaft
phenotype Finding 6 0.100 0
CUI: C1833734
Disease: Carpal osteolysis
Carpal osteolysis
phenotype Pathologic Function 2 0.100 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation
phenotype Finding 3 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0746926
Disease: Multiple, subcutaneous nodules
Multiple, subcutaneous nodules
disease Disease or Syndrome 64 0.100 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital Abnormality 129 4 0.100 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.100 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Finding 194 2 0.100 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 141 2 0.100 0
CUI: C1833735
Disease: Osteolysis involving tarsal bones
Osteolysis involving tarsal bones
phenotype Pathologic Function 2 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: C1837407
Disease: Ankle contracture
Ankle contracture
phenotype Finding 15 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: 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
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: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 107 4 0.100 0
CUI: C0017566
Disease: Gingival Hyperplasia
Gingival Hyperplasia
phenotype Stomatognathic Diseases Pathologic Function 50 0.100 0
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy
disease Stomatognathic Diseases Disease or Syndrome 51 1 0.100 0