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: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 5 0.900 strong 1.000 3 5 2007 2011
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 0.610 strong 1.000 1 3 2007 2007
Short rib-polydactyly syndrome, Verma-Naumoff type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 2 0.500 None 1.000 3 2011 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.500 None 1.000 1 2007 2007
Short rib-polydactyly syndrome, Beemer type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 8 0.400 None 1.000 1 1 2019 2019
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.400 None 1.000 1 2007 2007
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.320 None 1.000 2 2018 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.310 None 1.000 1 2007 2007
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 1 2007 2007
CUI: C0039978
Disease: Thoracic Diseases
Thoracic Diseases
group Respiratory Tract Diseases Disease or Syndrome 5 0.300 None 1.000 1 2007 2007
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2007 2007
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.300 None 1.000 1 2007 2007
CUI: C0004044
Disease: Asphyxia
Asphyxia
phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 3 0.300 None 1.000 1 2007 2007
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.300 None 1.000 1 2007 2007
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2007 2007
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category
phenotype Finding 11 0.300 moderate 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
phenotype Laboratory Procedure 53 69 0.300 moderate 0
Asphyxiating thoracic dysplasia [Jeune]
disease Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia
disease Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality 5 0.200 None 1.000 1 2011 2011
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 108 0.200 None 1.000 1 2011 2011
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2018 2018
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 1 2019 2019
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0