TaoMedAI/RareMedData huggingface dataset:
Gene: GJA8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Palmoplantar erythema (HP:0025493)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Frontal balding (HP:0002292)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Schizophrenia (HP:0100753)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Esodeviation (HP:0020045)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Nuclear pulverulent cataract (HP:0010698)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Sutural cataract (HP:0010695)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Truncal obesity (HP:0001956)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Broad hallux (HP:0010055)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Microdontia (HP:0000691)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Broad thumb (HP:0011304)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Synophrys (HP:0000664)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Autism (HP:0000717)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Long lower eyelashes (HP:0040053)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Epicanthus (HP:0000286)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Turricephaly (HP:0000262)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: High palate (HP:0000218)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Long philtrum (HP:0000343)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Round face (HP:0000311)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Triangular face (HP:0000325)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Pointed chin (HP:0000307)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Strabismus (HP:0000486)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Short neck (HP:0000470)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Pes planus (HP:0001763)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent nose (HP:0000448)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Protruding ear (HP:0000411)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Cataract (HP:0000518)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Talipes (HP:0001883)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJB1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Language impairment (HP:0002463)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Areflexia (HP:0001284)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Ataxia (HP:0001251)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Tremor (HP:0001337)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Tremor (HP:0001337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Dysmetria (HP:0001310)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Dysmetria (HP:0001310)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Intention tremor (HP:0002080)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Axonal loss (HP:0003447)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Paraparesis (HP:0002385)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Frequent falls (HP:0002359)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Hand tremor (HP:0002378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Incoordination (HP:0002311)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Clumsiness (HP:0002312)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMTX1; X-linked Charcot-Marie-Tooth disease type 1; CMT1X (ORPHA:101075)
Gene: GJB1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Gene: GJB1
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Gene: GJB2
Phenotype: Trichiasis (HP:0001128)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB2
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB2
Phenotype: Sepsis (HP:0100806)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB2
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)