ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908094
rs121908094 		0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908095
rs121908095 		0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs121908093
rs121908093 		0.882 0.160 1 40285988 missense variant T/C snv
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0241181
Disease: Fragile skin
Fragile skin 		0.700 0
dbSNP: rs121908093
rs121908093 		0.882 0.160 1 40285988 missense variant T/C snv
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0020490
Disease: Hyperopia
Hyperopia 		Eye Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607181
rs267607181 		1.000 0.120 1 40271981 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875360
rs281875360 		1.000 0.120 1 40258320 frameshift variant A/- delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875361
rs281875361 		1.000 0.120 1 40258324 frameshift variant -/T delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875367
rs281875367 		1.000 0.120 1 40270084 frameshift variant -/T delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs786205123
rs786205123 		1.000 0.120 1 40270083 frameshift variant AT/- delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908094
rs121908094 		0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908095
rs121908095 		0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008