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: 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: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 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: 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: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None 1.000 1 1999 1999
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: 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: 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 7 0.010 None 1.000 1 2011 2011
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
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: 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: 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: 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: 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: 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
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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease Congenital Abnormality 32 16 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 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: 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