CEP120, centrosomal protein 120, 153241

N. diseases: 153; N. variants: 16
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.
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
disease Disease or Syndrome 1 2 0.600 None 1.000 3 2 2015 2018
CUI: C4540355
Disease: JOUBERT SYNDROME 31
JOUBERT SYNDROME 31
disease Disease or Syndrome 1 5 0.600 None 1.000 1 5 2016 2016
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 29 116 0.520 strong 1.000 3 2015 2018
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.500 strong 1.000 1 2016 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.330 None 1.000 3 1 2016 2019
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 5 0.300 None 1.000 1 2016 2016
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 13 0.300 None 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.300 None 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 108 0.300 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 None 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2016 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.100 None 1.000 1 1 2018 2018
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 60 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones
phenotype Finding 6 1 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0 1
CUI: C1857479
Disease: Short columella
Short columella
phenotype Finding 20 5 0.100 None 0 1