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: 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: C0039978
Disease: Thoracic Diseases
Thoracic Diseases
group Respiratory Tract Diseases Disease or Syndrome 5 0.300 None 1.000 1 2007 2007
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
Asphyxiating thoracic dysplasia [Jeune]
disease Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
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
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: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 6 0.100 None 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification
disease Anatomical Abnormality 7 0.100 None 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 8 1 0.100 None 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.100 None 0
Absent or minimally ossified vertebral bodies
phenotype Finding 9 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: 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
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 17 1 0.100 None 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.100 None 0 1
CUI: C0266231
Disease: Ectopic anus
Ectopic anus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0
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 0.020 None 1.000 2 2009 2011
CUI: C0685787
Disease: Cleft face
Cleft face
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2007 2007
CUI: C0264142
Disease: Spade-like hand
Spade-like hand
disease Musculoskeletal Diseases Congenital Abnormality 24 0.100 None 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 1 0.100 None 0
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 27 6 0.010 None 1.000 1 2019 2019
CUI: C0549306
Disease: Mesomelia
Mesomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 0.100 None 0
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