IFT122, intraflagellar transport 122, 55764

N. diseases: 135; N. variants: 14
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: C1860819
Disease: Metopic synostosis
Metopic synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.300 None 1.000 1 2010 2010
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.010 None 1.000 1 2017 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2014 2014
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2017 2017
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2017 2017
CUI: C0270720
Disease: Hydrocephalus Ex-Vacuo
Hydrocephalus Ex-Vacuo
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2010 2010
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.300 None 1.000 1 2010 2010
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.400 None 1.000 1 2010 2010
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2010 2010
Spastic paraplegia 4, autosomal dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 101 0.010 None 1.000 1 2011 2011
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2018 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2017 2017
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
disease Nervous System Diseases Congenital Abnormality 39 0.300 None 1.000 1 2010 2010
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.300 None 1.000 1 2010 2010
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2017 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2018 2018
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
group Digestive System Diseases Disease or Syndrome 144 14 0.010 None 1.000 1 2018 2018
CUI: C0017086
Disease: Gangrene
Gangrene
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.010 None 1.000 1 2019 2019
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.300 None 1.000 1 2010 2010
CUI: C0013608
Disease: Edema, Cardiac
Edema, Cardiac
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 3 0.300 None 1.000 1 2010 2010
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.300 None 1.000 1 2010 2010
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.300 None 1.000 1 2010 2010
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2019 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.400 None 1.000 1 2010 2010
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 26 1 0.300 None 1.000 1 2010 2010