IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
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 10 WITH POLYDACTYLY
disease Finding 1 2 0.100 None 0 2
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71
disease Disease or Syndrome 2 7 0.700 strong 1.000 2 7 2013 2015
CUI: C1321587
Disease: Breathing abnormally deep
Breathing abnormally deep
phenotype Respiratory Tract Diseases Sign or Symptom 2 1 0.010 None 1.000 1 2018 2018
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
disease Disease or Syndrome 2 8 0.600 strong 1.000 1 8 2013 2013
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
disease Finding 2 7 0.100 None 0 7
VACTERL Association With Hydrocephalus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 7 0.010 None 1.000 1 2011 2011
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 20 0.510 strong 1.000 1 2013 2013
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
disease Congenital Abnormality 6 0.110 None 1.000 1 2019 2019
CUI: C0220708
Disease: VATER Association
VATER Association
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 12 0.200 None 1.000 1 2011 2011
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle
phenotype Finding 14 0.100 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: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.400 None 0 1
Cone-shaped epiphyses of the phalanges of the hand
phenotype Finding 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 0.300 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
phenotype Finding 26 7 0.100 None 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow
disease Finding 28 2 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 0.500 strong 1.000 1 2013 2013
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs
phenotype Finding 29 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0
Attenuation of retinal blood vessels
phenotype Finding 41 2 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
disease Anatomical Abnormality 42 0.100 None 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 45 4 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0