ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 31; N. variants: 10
Source: CLINVAR ×
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 5 0.710 None 1.000 0 5 2003 2016
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 2 10 0.700 None 1.000 0 6 2005 2009
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 8 15 0.100 None 0 1
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 7 11 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 88 257 0.100 None 0 1
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype Finding 1 2 0.100 None 0 1
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 31 0.100 None 0 1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 15 21 0.100 None 0 1
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 19 0.100 None 0 1
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 11 13 0.100 None 0 1
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 7 7 0.100 None 0 1
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 4 5 0.100 None 0 1
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 15 28 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 30 32 0.100 None 0 1
CUI: C4021829
Disease: Narrow nail
Narrow nail 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 24 31 0.100 None 0 1
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 8 8 0.100 None 0 1
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 16 17 0.100 None 0 1
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 7 8 0.100 None 0 1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 35 40 0.100 None 0 1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 9 11 0.100 None 0 1
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 13 0.100 None 0 1
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 16 17 0.100 None 0 1
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 28 34 0.100 None 0 1
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 3 5 0.100 None 0 1