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.
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 86 163 0.330 None 1.000 3 2015 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.030 None 1.000 3 2015 2018
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 2 10 2010 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.410 None 1.000 2 2015 2019
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 2 10 2010 2013
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.210 None 1.000 2 2010 2011
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.010 None 1.000 1 2011 2011
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: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 2018 2018
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
phenotype Laboratory or Test Result 65 113 0.100 None 1.000 1 1 2012 2012
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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.100 None 1.000 1 1 2015 2015
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 154 14 0.010 None 1.000 1 2015 2015
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2008 2008
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 2016 2016
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
phenotype Laboratory Procedure 96 212 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2019 2019
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: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
disease Congenital Abnormality 6 0.110 None 1.000 1 2019 2019
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 457 10 0.010 None 1.000 1 1999 1999
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.010 None 1.000 1 2015 2015
CUI: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2018 2018
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 384 698 0.010 None 1.000 1 2013 2013