CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
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: rs121434311
rs121434311 		0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2005 2011
dbSNP: rs1060499557
rs1060499557 		1.000 13 24883255 frameshift variant ATGA/- del
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		0.700 0
dbSNP: rs121434311
rs121434311 		0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs144938364
rs144938364 		1.000 0.120 13 24905576 missense variant G/A snv 1.5E-03 5.7E-04
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1477524771
rs1477524771 		1.000 0.120 13 24883301 missense variant C/T snv 8.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555294652
rs1555294652 		1.000 0.120 13 24884355 missense variant C/T snv
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555299107
rs1555299107 		1.000 0.120 13 24912967 stop gained C/T snv
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422202
rs199422202 		0.851 0.120 13 24913008 frameshift variant G/- delins
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422202
rs199422202 		0.851 0.120 13 24913008 frameshift variant G/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs199422202
rs199422202 		0.851 0.120 13 24913008 frameshift variant G/- delins
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422202
rs199422202 		0.851 0.120 13 24913008 frameshift variant G/- delins
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422202
rs199422202 		0.851 0.120 13 24913008 frameshift variant G/- delins
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422203
rs199422203 		0.925 0.120 13 24889371 frameshift variant ACTG/- delins 8.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422203
rs199422203 		0.925 0.120 13 24889371 frameshift variant ACTG/- delins 8.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201088712
rs201088712 		1.000 13 24906775 missense variant C/G snv 1.6E-04 2.0E-04
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs201111299
rs201111299 		0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C4021030
Disease: Type III lissencephaly
Type III lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs201111299
rs201111299 		0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201111299
rs201111299 		0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs201111299
rs201111299 		0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs202058504
rs202058504 		0.925 0.120 13 24906452 stop gained G/C snv 9.6E-05 1.1E-04
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs202058504
rs202058504 		0.925 0.120 13 24906452 stop gained G/C snv 9.6E-05 1.1E-04
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783410
rs587783410 		1.000 0.120 13 24885305 stop gained G/A;C snv 8.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749343808
rs749343808 		0.925 0.120 13 24899538 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749343808
rs749343808 		0.925 0.120 13 24899538 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs759188041
rs759188041 		0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0