GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
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: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0 1
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1275100
Disease: Keratoderma with deafness
Keratoderma with deafness 		disease Disease or Syndrome 1 0.300 strong 0
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 13 5 0.100 None 0 1
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype Finding 18 0.100 None 0
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 57 0.100 None 0 1
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C1562761
Disease: Punctate epithelial keratitis
Punctate epithelial keratitis 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		disease Stomatognathic Diseases Disease or Syndrome 36 1 0.100 None 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0 1
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 117 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0 1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0 1
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		disease Congenital Abnormality 3 2 0.100 None 0 1
CUI: C4025722
Disease: Abnormality of the spinal cord
Abnormality of the spinal cord 		group Finding 4 0.100 None 0