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: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 10 12 0.730 None 1.000 10 10 2009 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.050 None 1.000 5 1 2010 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.030 None 1.000 3 2011 2014
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 22 0.130 None 1.000 3 6 2016 2018
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.020 None 0.500 2 2016 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.020 None 1.000 2 1996 2017
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2010 2010
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 1.000 1 2010 2010
CUI: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly 		disease Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 1 2010 2010
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.300 None 1.000 1 2010 2010
CUI: C3160814
Disease: Cannabis use
Cannabis use 		disease Mental or Behavioral Dysfunction 74 44 0.010 None 1.000 1 2017 2017
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 2000 2000
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0149779
Disease: Somatization
Somatization 		disease Mental or Behavioral Dysfunction 21 5 0.010 None 1.000 1 2017 2017
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2011 2011
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2017 2017
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 7 0.010 None 1.000 1 2017 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
CUI: C0037932
Disease: Curvature of spine
Curvature of spine 		phenotype Musculoskeletal Diseases Finding 1 0.300 None 1.000 1 2010 2010
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.300 None 1.000 1 2010 2010
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.010 None 1.000 1 2016 2016
CUI: C1504405
Disease: Pyramidal Tract Dysfunction
Pyramidal Tract Dysfunction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 8 0.310 None 1.000 1 2017 2017
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.300 None 1.000 1 2010 2010
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.300 None 1.000 1 2010 2010