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.
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 11 0.700 strong 1.000 1 11 2010 2010
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
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: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		disease Disease or Syndrome 2 6 0.600 None 1.000 1 5 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: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		phenotype Finding 8 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		phenotype Congenital Abnormality 14 1 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: 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: C3711387
Disease: Autosomal Recessive Primary Microcephaly
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: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0
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
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease Nervous System Diseases Disease or Syndrome 39 9 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype Finding 39 2 0.100 None 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		phenotype Finding 40 1 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
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
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 62 6 0.100 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.100 None 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.100 None 0