IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		disease Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.300 moderate 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 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: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		phenotype Finding 9 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease Congenital Abnormality 57 6 0.100 None 0
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		phenotype Finding 11 0.300 moderate 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0