MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
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: C0887976
Disease: Chlamydophila Infections
Chlamydophila Infections
group Infections Disease or Syndrome 1 0.200 None 1.000 1 2002 2002
Osteolysis involving bones of the upper limbs
phenotype Musculoskeletal Diseases Pathologic Function 1 0.100 None 0
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 2 2 0.710 limited 1.000 2 1 2012 2018
Osteolysis involving bones of the feet
disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.100 None 0
CUI: C4025195
Disease: Sclerotic cranial sutures
Sclerotic cranial sutures
phenotype Finding 2 0.100 None 0
CUI: C1333843
Disease: Grade 3 Invasive Breast Carcinoma
Grade 3 Invasive Breast Carcinoma
disease Neoplastic Process 3 0.010 None 1.000 1 2008 2008
CUI: C1833734
Disease: Carpal osteolysis
Carpal osteolysis
phenotype Pathologic Function 3 0.100 None 0
CUI: C1833735
Disease: Osteolysis involving tarsal bones
Osteolysis involving tarsal bones
phenotype Pathologic Function 3 0.100 None 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology
disease Musculoskeletal Diseases Anatomical Abnormality 5 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
Proliferative diabetic retinopathy - quiescent
disease Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0007135
Disease: Adenocarcinoma, Scirrhous
Adenocarcinoma, Scirrhous
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2004 2004
CUI: C0333205
Disease: Mural thrombus
Mural thrombus
disease Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2003 2003
CUI: C1260883
Disease: Mural thrombus of heart
Mural thrombus of heart
disease Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2003 2003
CUI: C1704320
Disease: Glomerulonephritis, Minimal Change
Glomerulonephritis, Minimal Change
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 0.010 None 1.000 1 2009 2009
Premature development of the breasts
phenotype Endocrine System Diseases Finding 7 0.100 None 0
CUI: C3828492
Disease: Pre-Gestational Diabetes
Pre-Gestational Diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2008 2008
CUI: C4726566
Disease: Extracranial Solid Neoplasm
Extracranial Solid Neoplasm
disease Neoplastic Process 8 0.010 None 1.000 1 2015 2015
CUI: C0426801
Disease: Broad clavicle
Broad clavicle
phenotype Finding 9 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals
phenotype Finding 12 0.100 None 0
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis
disease Eye Diseases Disease or Syndrome 17 0.010 None 1.000 1 2012 2012
CUI: C1321865
Disease: Juvenile astrocytoma
Juvenile astrocytoma
disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 1999 1999
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions
disease Disease or Syndrome 18 3 0.010 None 1.000 1 2002 2002
CUI: C1332183
Disease: Adult Astrocytic Tumor
Adult Astrocytic Tumor
disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 1999 1999