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.
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 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: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2016 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
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: C0027443
Disease: Natal Teeth
Natal Teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		disease Congenital Abnormality 14 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0 1
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype Finding 21 0.100 None 0