Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		disease 0.710 None 1.000 6 6 2003 2016
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		disease 0.700 None 1.000 3 6 2005 2009
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease 0.100 None 1.000 12 3 2003 2019
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group 0.110 None 1.000 1 2 2008 2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		disease 0.030 None 1.000 3 1 2003 2014
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease 0.130 None 1.000 3 1 2003 2014
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		disease 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		disease 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 1