PCNT, pericentrin, 5116

N. diseases: 156; N. variants: 43
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II ×
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: rs587784319
rs587784319 		1.000 0.240 21 46430115 frameshift variant T/- del
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587784320
rs587784320 		1.000 0.240 21 46436019 frameshift variant -/T delins
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587784321
rs587784321 		1.000 0.240 21 46436069 stop gained C/T snv 2.4E-05 7.0E-06
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs755084205
rs755084205 		1.000 0.240 21 46388741 splice acceptor variant G/A snv 1.6E-05
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs757577162
rs757577162 		1.000 0.240 21 46412065 stop gained C/T snv 1.3E-05 2.1E-05
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045875
rs797045875 		1.000 0.240 21 46354019 frameshift variant AAAG/- delins
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045879
rs797045879 		1.000 0.240 21 46401693 frameshift variant AG/- delins 7.0E-06
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0