CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 2 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2013 2019
Selective mutism specific to childhood and adolescence
phenotype Mental or Behavioral Dysfunction 6 2 0.020 None 1.000 2 2 2011 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 0.500 2 2008 2014
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom
phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2018 2018
CUI: C0458960
Disease: Peripheral neuropathic pain
Peripheral neuropathic pain
phenotype Sign or Symptom 24 0.010 None 1.000 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 3 2018 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2016 2016
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 84 14 0.010 None 1.000 1 2017 2017
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion
disease Disease or Syndrome 40 1 0.010 None 1.000 1 2017 2017
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2910100
Disease: Arnold-Chiari syndrome, type IV
Arnold-Chiari syndrome, type IV
disease Disease or Syndrome 1 0.200 None 1.000 1 2011 2011
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2013 2013
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance
phenotype Finding 10 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1843793
Disease: Progressive language deterioration
Progressive language deterioration
phenotype Finding 2 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces
phenotype Finding 5 0.100 None 0
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease
phenotype Finding 4 1 0.100 None 0