MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
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: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation 		phenotype Finding 3 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C1850158
Disease: Interphalangeal joint erosions
Interphalangeal joint erosions 		phenotype Finding 1 0.100 None 0
CUI: C1850159
Disease: Widened metacarpal shaft
Widened metacarpal shaft 		phenotype Finding 1 0.100 None 0
CUI: C1850160
Disease: Thin metacarpal cortices
Thin metacarpal cortices 		phenotype Finding 2 0.100 None 0
CUI: C1850162
Disease: Thin metatarsal cortices
Thin metatarsal cortices 		phenotype Finding 1 0.100 None 0
CUI: C1854610
Disease: Metacarpal osteolysis
Metacarpal osteolysis 		phenotype Finding 2 0.100 None 0
CUI: C1854614
Disease: Metatarsal osteolysis
Metatarsal osteolysis 		phenotype Finding 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C4021784
Disease: Interphalangeal joint contracture of finger
Interphalangeal joint contracture of finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4024729
Disease: Distal tapering of metatarsals
Distal tapering of metatarsals 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024732
Disease: Ankylosis of feet small joints
Ankylosis of feet small joints 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology 		disease Musculoskeletal Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C4025195
Disease: Sclerotic cranial sutures
Sclerotic cranial sutures 		phenotype Finding 2 0.100 None 0
CUI: C4025863
Disease: Abnormality of the orbital region
Abnormality of the orbital region 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.020 None 1.000 2 1992 1993
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.020 None 1.000 2 1993 1994
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.010 None 1.000 1 1995 1995