ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 286; N. variants: 13
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: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 58 32 0.800 0.967 35 2002 2018
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 7 0.700 11 7 1985 2012
Lethal tight skin contracture syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 11 0.600 12 8 1985 2015
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.400 strong 1 2005 2005
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 112 19 0.350 1.000 6 2004 2016
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis
disease Musculoskeletal Diseases Disease or Syndrome 14 1 0.310 1.000 3 2004 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 154 17 0.310 1.000 1 2006 2006
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 1 2006 2006
CUI: C0024689
Disease: Mandibular Diseases
Mandibular Diseases
group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.300 1 2004 2004
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2006 2006
HIV-Associated Lipodystrophy Syndrome
disease Immune System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Virus Diseases Disease or Syndrome 10 0.300 1 2008 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 limited 0
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 39 2 0.200 1 2002 2002
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 19 0.200 1 2002 2002
Familial Partial Lipodystrophy, Type 3
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 8 0.200 1 2002 2002
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 14 0.200 1 2002 2002
Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]
disease Disease or Syndrome 14 0.200 1 2002 2002
Severe [Duchenne] muscular dystrophy
disease Disease or Syndrome 15 0.200 1 2002 2002
Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber
disease Congenital Abnormality; Disease or Syndrome 14 0.200 1 2002 2002
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 12 0.200 1 2002 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 202 29 0.200 1 2002 2002
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy
disease Disease or Syndrome 15 0.200 1 2002 2002
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 42 191 0.200 1 2002 2002
Familial Partial Lipodystrophy, Type 2
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 23 0.200 1 2002 2002