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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 1.000 11 2004 2014
CUI: C1837757
Disease: Progressive clavicular acroosteolysis
Progressive clavicular acroosteolysis 		phenotype Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones 		phenotype Finding 4 0.100 None 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		phenotype Finding 14 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C0423823
Disease: Thin nails
Thin nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 1 0.100 None 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		phenotype Finding 26 0.100 None 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle 		phenotype Wounds and Injuries Finding 5 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 1
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype Finding 10 1 0.100 None 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		phenotype Finding 11 2 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0 1
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype Finding 10 2 0.100 None 0 1
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		phenotype Finding 2 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 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: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		phenotype Finding 12 1 0.100 None 0 1
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 53 7 0.100 None 0 1