GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
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: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		disease Disease or Syndrome 10 0.100 None 1.000 30 2004 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 7 2 2004 2014
CUI: C4747646
Disease: LYMPHATIC MALFORMATION 3
LYMPHATIC MALFORMATION 3 		disease Disease or Syndrome 1 2 0.700 None 1.000 4 2 2008 2015
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2012 2012
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.010 None 1.000 1 2015 2015
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.010 None 1.000 1 2009 2009
CUI: C4749302
Disease: Maternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1 		disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		phenotype Finding 11 2 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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype Finding 29 4 0.100 None 0
CUI: C1608410
Disease: Head titubation
Head titubation 		phenotype Sign or Symptom 7 1 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.100 None 0
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 		disease Disease or Syndrome 3 3 0.100 None 0 1
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		phenotype Finding 13 2 0.100 None 0
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
Abnormality of somatosensory evoked potentials 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4022687
Disease: Abnormal motor evoked potentials
Abnormal motor evoked potentials 		phenotype Pathologic Function 4 0.100 None 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype Finding 32 6 0.100 None 0 1
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype Finding 87 0.100 None 0