NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
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: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2
disease Disease or Syndrome 1 3 0.600 strong 1.000 4 3 2009 2014
CUI: C3808494
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME
CHROMOSOME 2p16.3 DELETION SYNDROME
disease Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0039474
Disease: Temperament
Temperament
phenotype Behavior and Behavior Mechanisms Mental Process 2 2 0.100 None 1.000 1 1 2012 2012
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease
phenotype Finding 4 1 0.100 None 0
CUI: C0239154
Disease: High pitched cry
High pitched cry
phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces
phenotype Finding 5 0.100 None 0
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia
phenotype Finding 8 3 0.100 None 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 58 0.350 None 1.000 5 2009 2018
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance
phenotype Finding 10 0.100 None 0
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 1 2011 2011
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2011 2011
Auditory Processing Disorder, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2011 2011
CUI: C1860247
Disease: Prominent glabella
Prominent glabella
phenotype Finding 14 3 0.100 None 0
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance
disease Disease or Syndrome 16 1 0.100 None 0
CUI: C0236792
Disease: Asperger Syndrome
Asperger Syndrome
disease Mental Disorders Mental or Behavioral Dysfunction 17 3 0.010 None 1.000 1 2009 2009
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.310 None 1.000 2 2009 2011
CUI: C3894553
Disease: response to simvastatin
response to simvastatin
phenotype Cell Function 21 37 0.100 None 1.000 1 1 2018 2018
CUI: C0006325
Disease: Bruxism
Bruxism
phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction 24 9 0.100 None 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline
phenotype Finding 25 3 0.100 None 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
phenotype Finding 27 4 0.100 None 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C0852733
Disease: Completed Suicide
Completed Suicide
phenotype Mental or Behavioral Dysfunction 33 33 0.010 None 1.000 1 1 2012 2012
CUI: C0454651
Disease: Specific language impairment
Specific language impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.020 None 1.000 2 2011 2011
CUI: C0266815
Disease: Cow milk allergy
Cow milk allergy
phenotype Digestive System Diseases; Immune System Diseases Disease or Syndrome 38 0.100 None 0
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.100 None 0