ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
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: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 8 0.710 None 1.000 6 6 2003 2016
CUI: C0024689
Disease: Mandibular Diseases
Mandibular Diseases 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2003 2003
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		phenotype Finding 2 0.100 None 0
CUI: C1837763
Disease: Decreased adipose tissue around neck
Decreased adipose tissue around neck 		phenotype Finding 2 0.100 None 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4021829
Disease: Narrow nail
Narrow nail 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 0.100 None 0
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		phenotype Finding 3 0.100 None 0
CUI: C1837757
Disease: Progressive clavicular acroosteolysis
Progressive clavicular acroosteolysis 		phenotype Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1844618
Disease: Aplasia/Hypoplastia of the eccrine sweat glands
Aplasia/Hypoplastia of the eccrine sweat glands 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		phenotype Finding 3 1 0.100 None 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis 		phenotype Finding 3 0.100 None 0
CUI: C4025270
Disease: Arteriosclerosis of small cerebral arteries
Arteriosclerosis of small cerebral arteries 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 10 0.700 None 1.000 3 6 2005 2009
CUI: C0266786
Disease: Short cord
Short cord 		phenotype Finding 4 0.100 None 0
CUI: C0566693
Disease: Large placenta
Large placenta 		phenotype Finding 4 0.100 None 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		phenotype Finding 4 0.100 None 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones 		phenotype Finding 4 0.100 None 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels 		phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 0
CUI: C1849547
Disease: Osteolytic defects of the distal phalanges of the hand
Osteolytic defects of the distal phalanges of the hand 		phenotype Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 4 1 0.100 None 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		phenotype Cell or Molecular Dysfunction 4 0.100 None 0