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: rs121908093
rs121908093
0.882 0.160 1 40285988 missense variant T/C snv
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 4 2003 2010
dbSNP: rs121908095
rs121908095
0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 4 2003 2010
dbSNP: rs281875371
rs281875371
0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2003 2010
dbSNP: rs121908094
rs121908094
0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; 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
Flexion contracture of proximal interphalangeal joint
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: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 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: C1836646
Disease: Dermal translucency
Dermal translucency
0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1837142
Disease: Poor suck
Poor suck
0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
Birth length less than 3rd percentile
0.700 0
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: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C4021829
Disease: Narrow nail
Narrow nail
0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections 0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
Small for gestational age (disorder)
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
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: 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: C0241181
Disease: Fragile skin
Fragile skin
0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0151526
Disease: Premature Birth
Premature Birth
Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
Respiratory Tract 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: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0