CEP152, centrosomal protein 152, 22995

N. diseases: 66; N. variants: 32
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 11 0.700 strong 1.000 1 11 2010 2010
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5
disease Disease or Syndrome 2 6 0.600 None 1.000 1 5 2011 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.410 None 1.000 1 1 2011 2011
Autosomal Recessive Primary Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.320 None 1.000 2 2011 2013
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 39 9 0.310 strong 1.000 1 2019 2019
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 7 0.300 strong 1.000 1 2011 2011
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 8 0.300 None 1.000 1 2011 2011
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype Organ or Tissue Function 24 72 0.100 None 1.000 1 2 2007 2007
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
phenotype Finding 30 1 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 149 5 0.100 None 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance
phenotype Finding 40 1 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 180 8 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe
phenotype Congenital Abnormality 14 1 0.100 None 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis
phenotype Finding 8 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 62 34 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose
disease Anatomical Abnormality 13 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
phenotype Finding 67 11 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group Anatomical Abnormality 96 4 0.100 None 0