GJB1, gap junction protein beta 1, 2705

N. diseases: 224; N. variants: 86
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: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0 2
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.100 None 0 1
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0 1
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		phenotype Finding 4 1 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		phenotype Finding 14 4 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 28 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0