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: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca
disease Eye Diseases Disease or Syndrome 90 3 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1845878
Disease: Irregularly spaced teeth
Irregularly spaced teeth
phenotype Finding 3 2 0.100 None 0 1
Progressive hearing loss stapes fixation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 35 0.400 None 0 17
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0 1
Ichthyosis follicularis atrichia photophobia syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.100 None 0 1
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C0478084
Disease: Other congenital ichthyosis
Other congenital ichthyosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 1 0.200 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 42 1 0.100 None 0
Short distal phalanx of the 5th finger
phenotype Finding 6 2 0.100 None 0 1
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail
phenotype Finding 30 2 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
phenotype Finding 39 0.100 None 0
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.600 None 0 1
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.600 None 0 1
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 144 6 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0 1