IFT172, intraflagellar transport 172, 26160

N. diseases: 18; N. variants: 0
Source: BEFREE ×
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: 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 0.510 strong 1.000 1 2013 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 402 146 0.410 None 1.000 1 2015 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 80 9 0.330 None 1.000 3 2015 2019
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 66 4 0.210 None 1.000 1 2010 2011
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 194 16 0.110 None 1.000 1 2018 2018
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		disease Congenital Abnormality 2 0.110 None 1.000 1 2019 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 6 0.030 None 1.000 3 2015 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1144 24 0.010 None 1.000 1 2008 2008
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 96 15 0.010 None 1.000 1 2015 2015
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 208 1 0.010 None 1.000 1 2018 2018
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
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 0.010 None 1.000 1 2011 2011
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 444 10 0.010 None 1.000 1 1999 1999
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 42 12 0.010 None 1.000 1 2011 2011
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
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 521 11 0.010 None 1.000 1 1999 1999
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 91 14 0.010 None 1.000 1 2015 2015
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 17 0.010 None 1.000 1 2016 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 372 27 0.010 None 1.000 1 2013 2013