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Gene HMID Gene Symbol Organ Specificity DiseaseID Disease Name Related Organ
HM01993GJB2earMESH:D019584Hot Flashes
HM01993GJB2earMESH:D007410Intestinal Diseasessmall intestine
HM01993GJB2earMESH:D007410Intestinal Diseasesrectum
HM01993GJB2earMESH:D007410Intestinal Diseasescolon
HM01993GJB2earMESH:D007410Intestinal Diseasesblood vessel
HM01993GJB2earOMIM:148210KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
HM01993GJB2earMESH:D009442Neurilemmomabrain
HM01993GJB2earMESH:D013953Thymus Neoplasms
HM01993GJB2earMESH:D013953Thymus Neoplasms
HM01993GJB2earMESH:D054079Vascular Malformations
HM01993GJB2earMESH:D000505Alopeciaskin
HM01993GJB2earMESH:D007248Infertility, Male
HM01993GJB2earMESH:D008106Liver Cirrhosis, Experimental
HM01993GJB2earMESH:D008527Medulloblastomaembryo
HM01993GJB2earMESH:D001169Arthritis, Experimental
HM01993GJB2earMESH:D001932Brain Neoplasmsbrain
HM01993GJB2earMESH:D002481Cellulitisskin
HM01993GJB2earMESH:D017497Hidradenitis Suppurativaskin
HM01993GJB2earMESH:D012208Rhabdomyosarcomarectum
HM01993GJB2earMESH:D012208Rhabdomyosarcomaprostate
HM01993GJB2earMESH:D012208Rhabdomyosarcomamuscle
HM01993GJB2earMESH:D000152Acne Vulgaris
HM01993GJB2earMESH:D001989Bronchiolitis Obliteranslung
HM01993GJB2earMESH:D029481Bronchitis, Chroniclung
HM01993GJB2earOMIM:149200KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
HM01993GJB2earMESH:D010900Pituitary Diseasespituitary
HM01993GJB2earMESH:D018246Adrenocortical Adenoma
HM01993GJB2earMESH:D000419Albuminuria
HM01993GJB2earMESH:D004681Encephalomyelitis, Autoimmune, Experimental
HM01993GJB2earMESH:D009369Neoplasmsspleen
HM01993GJB2earMESH:D009369Neoplasmsbone marrow
HM01993GJB2earMESH:D000740Anemiabone marrow
HM01993GJB2earMESH:D020201Brain Hemorrhage, Traumatic
HM01993GJB2earMESH:D006331Heart Diseasesheart
HM01993GJB2earMESH:D007249Inflammation
HM01993GJB2earMESH:D009364Neoplasm Recurrence, Local
HM01993GJB2earMESH:D002181Candidiasis, Vulvovaginal
HM01993GJB2earMESH:D007057Ichthyosis
HM01993GJB2earMESH:D009404Nephrotic Syndromekidney
HM01993GJB2earMESH:D011693Purpurabone marrow
HM01993GJB2earMESH:D012878Skin Neoplasms
HM01993GJB2earMESH:D001848Bone Diseases, Developmental
HM01993GJB2earMESH:D001930Brain Injuries
HM01993GJB2earMESH:D009135Muscular Diseasesmuscle
HM01993GJB2earMESH:D006457Hemoglobinuria, Paroxysmal
HM01993GJB2earMESH:D011658Pulmonary Fibrosislung
HM01993GJB2earMESH:D007638Keratoconjunctivitis Siccaeye
HM01993GJB2earMESH:D007889Leiomyomamuscle
HM01993GJB2earMESH:D008114Liver Neoplasms, Experimental
HM01993GJB2earMESH:D000013Congenital Abnormalities
HM01993GJB2earOMIM:602540ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
HM01993GJB2earMESH:D011041Poisoning
HM01993GJB2earMESH:D015470Leukemia, Myeloid, Acutebone marrow
HM01993GJB2earMESH:D008591Meningomyelocele
HM01993GJB2earMESH:D015428Myocardial Reperfusion Injury
HM01993GJB2earMESH:D009396Wilms Tumorkidney
HM01993GJB2earMESH:D009396Wilms Tumorcervix
HM01993GJB2earMESH:D002294Carcinoma, Squamous Celllung
HM01993GJB2earMESH:D002294Carcinoma, Squamous Cellliver
HM01993GJB2earMESH:D002294Carcinoma, Squamous Celllarynx
HM01993GJB2earMESH:D002294Carcinoma, Squamous Cellkidney
HM01993GJB2earMESH:D002294Carcinoma, Squamous Celleye
HM01993GJB2earMESH:D006332Cardiomegaly
HM01993GJB2earMESH:D003110Colonic Neoplasmscolon
HM01993GJB2earMESH:D056486Drug-Induced Liver Injury
HM01993GJB2earMESH:D008546Melanoma, Experimental
HM01993GJB2earMESH:D019282Wasting Syndrome
HM01993GJB2earMESH:D015619Respiratory System Abnormalities
HM01993GJB2earMESH:D002583Uterine Cervical Neoplasmscervix
HM01993GJB2earMESH:D014820Vitiligobone marrow
HM01993GJB2earMESH:D006930Hyperalgesia
HM01993GJB2earMESH:D008113Liver Neoplasms
HM01993GJB2earMESH:D008113Liver Neoplasms
HM01993GJB2earMESH:D013964Thyroid Neoplasmsthyroid
HM01993GJB2earMESH:D001321Autistic Disorder
HM01993GJB2earMESH:D018236Carcinoma, Embryonal
HM01993GJB2earMESH:D020244Infarction, Middle Cerebral Arteryblood vessel
HM01993GJB2earMESH:D017119Porphyria Cutanea Tardaskin
HM01993GJB2earMESH:D000008Abdominal Neoplasmsureter
HM01993GJB2earMESH:D000008Abdominal Neoplasmsprostate
HM01993GJB2earMESH:D000008Abdominal Neoplasmsliver
HM01993GJB2earMESH:D000008Abdominal Neoplasmsbone
HM01993GJB2earMESH:D000008Abdominal Neoplasmsbladder
HM01993GJB2earMESH:D003929Diabetic Neuropathies
HM01993GJB2earMESH:D003929Diabetic Neuropathies
HM01993GJB2earMESH:D003929Diabetic Neuropathies
HM01993GJB2earMESH:D014594Uterine Neoplasmscervix
HM01993GJB2earMESH:D014594Uterine Neoplasms
HM01993GJB2earMESH:D055371Acute Lung Injury
HM01993GJB2earMESH:D016889Endometrial Neoplasmsuterus
HM01993GJB2earMESH:D005355Fibrosis
HM01993GJB2earMESH:D007645Keratoderma, Palmoplantarskin
HM01993GJB2earMESH:D009421Nervous System Malformations
HM01993GJB2earMESH:D010212Papillomabrain
HM01993GJB2earMESH:D010212Papillomaliver
HM01993GJB2earMESH:D010212Papilloma
HM01993GJB2earMESH:D014062Tongue Neoplasms
HM01993GJB2earMESH:D003876Dermatitis, Atopicskin
HM01993GJB2earMESH:D052801Male Urogenital Diseases
HM01993GJB2earMESH:D011625Pterygiumeye
HM01993GJB2earMESH:D002779Cholestasisliver
HM01993GJB2earMESH:D005885Gingival Hyperplasia
HM01993GJB2earMESH:D005910Gliomabrain
HM01993GJB2earMESH:D005910Gliomaembryo
HM01993GJB2earMESH:D005910Gliomabrain
HM01993GJB2earMESH:D005910Gliomaspinal cord
HM01993GJB2earMESH:D005910Gliomabrain
HM01993GJB2earMESH:D009436Neural Tube Defects
HM01993GJB2earMESH:D014376Tuberculosis
HM01993GJB2earMESH:D002277Carcinoma
HM01993GJB2earMESH:D003928Diabetic Nephropathies
HM01993GJB2earMESH:D009374Neoplasms, Experimental
HM01993GJB2earMESH:D009389Neovascularization, Pathologic
HM01993GJB2earMESH:D014591Uterine Diseasesuterus
HM01993GJB2earMESH:D014591Uterine Diseasesplacenta
HM01993GJB2earMESH:D014591Uterine Diseasescervix
HM01993GJB2earMESH:D002822Choriocarcinomabrain
HM01993GJB2earMESH:D003456Cryptorchidism
HM01993GJB2earMESH:D008107Liver Diseasesskin
HM01993GJB2earMESH:D008107Liver Diseasesmuscle
HM01993GJB2earMESH:D008107Liver Diseaseslung
HM01993GJB2earMESH:D008107Liver Diseasesliver
HM01993GJB2earMESH:D014689Venous Insufficiencyblood vessel
HM01993GJB2earMESH:D000686Amyloidosis
HM01993GJB2earMESH:D017202Myocardial Ischemiaheart
HM01993GJB2earMESH:D009362Neoplasm Metastasis
HM01993GJB2earMESH:D009503Neutropeniabone marrow
HM01993GJB2earMESH:D010146Pain
HM01993GJB2earMESH:D000799Angioedemaskin
HM01993GJB2earMESH:D020521Strokeblood vessel
HM01993GJB2earMESH:D014581Urticariaskin
HM01993GJB2earMESH:D018281Cholangiocarcinomaliver
HM01993GJB2earMESH:D003924Diabetes Mellitus, Type 2pancreas
HM01993GJB2earMESH:D004890Erythema
HM01993GJB2earOMIM:148350KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
HM01993GJB2earMESH:D020149Manganese Poisoning
HM01993GJB2earMESH:D053842Microsatellite Instability
HM01993GJB2earMESH:D002295Carcinoma, Transitional Cell
HM01993GJB2earMESH:D004714Endometrial Hyperplasia
HM01993GJB2earMESH:D006689Hodgkin Disease
HM01993GJB2earMESH:D017880Limb Deformities, Congenital
HM01993GJB2earMESH:D003092Colitis
HM01993GJB2earMESH:D007333Insulin Resistance
HM01993GJB2earMESH:D013274Stomach Neoplasms
HM01993GJB2earMESH:D001768Blister
HM01993GJB2earMESH:D001927Brain Diseasespancreas
HM01993GJB2earMESH:D001927Brain Diseasesnerve
HM01993GJB2earMESH:D001927Brain Diseasesmuscle
HM01993GJB2earMESH:D001927Brain Diseasesganglia
HM01993GJB2earMESH:D001927Brain Diseasesbrain
HM01993GJB2earMESH:D001927Brain Diseasesbone marrow
HM01993GJB2earMESH:D001927Brain Diseasesblood vessel
HM01993GJB2earMESH:D013088Spermatocele
HM01993GJB2earMESH:D004487Edema
HM01993GJB2earMESH:D006869Hydronephrosiskidney
HM01993GJB2earMESH:D008171Lung Diseases
HM01993GJB2earMESH:D008175Lung Neoplasmslung
HM01993GJB2earMESH:D001778Blood Coagulation Disordersbone marrow
HM01993GJB2earMESH:D004362Drug Toxicity
HM01993GJB2earMESH:D017114Liver Failure, Acute
HM01993GJB2earMESH:D019043Vascular Neoplasms
HM01993GJB2earMESH:D019465Craniofacial Abnormalities
HM01993GJB2earMESH:D005124Eye Abnormalities
HM01993GJB2earMESH:D005313Fetal Death
HM01993GJB2earMESH:D008223Lymphoma
HM01993GJB2earMESH:D010300Parkinson Diseasenerve
HM01993GJB2earMESH:D014846Vulvar Neoplasms
HM01993GJB2earMESH:D002282Adenocarcinoma, Bronchiolo-Alveolar
HM01993GJB2earMESH:D001943Breast Neoplasmsbreast
HM01993GJB2earMESH:D003072Cognition Disorders
HM01993GJB2earMESH:D005909Glioblastomabone
HM01993GJB2earMESH:D005909Glioblastomabrain
HM01993GJB2earMESH:D005909Glioblastomabone
HM01993GJB2earMESH:D007859Learning Disorders
HM01993GJB2earMESH:D007938Leukemiaspleen
HM01993GJB2earMESH:D007938Leukemiabone marrow
HM01993GJB2earMESH:D004938Esophageal Neoplasms
HM01993GJB2earMESH:D007246Infertility
HM01993GJB2earMESH:D007247Infertility, Female
HM01993GJB2earMESH:D008579Meningioma
HM01993GJB2earMESH:D010190Pancreatic Neoplasmspancreas
HM01993GJB2earMESH:D011565Psoriasisskin
HM01993GJB2earMESH:D014605Uveitiseye
HM01993GJB2earMESH:D002386Cataractpancreas
HM01993GJB2earMESH:D002386Cataracteye
HM01993GJB2earMESH:D016543Central Nervous System Neoplasmsbone marrow
HM01993GJB2earMESH:D006319Hearing Loss, Sensorineural
HM01993GJB2earMESH:D001997Bronchopulmonary Dysplasialung
HM01993GJB2earMESH:D004489Edema, Cardiac
HM01993GJB2earMESH:D006317Hearing Loss, Noise-Induced
HM01993GJB2earMESH:D009203Myocardial Infarctionheart
HM01993GJB2earMESH:D000236Adenomapancreas
HM01993GJB2earMESH:D000236Adenomaliver
HM01993GJB2earMESH:D000236Adenomakidney
HM01993GJB2earMESH:D000236Adenoma
HM01993GJB2earMESH:D000236Adenoma
HM01993GJB2earMESH:D000236Adenoma
HM01993GJB2earMESH:D000236Adenoma
HM01993GJB2earMESH:D018290Cervical Intraepithelial Neoplasia
HM01993GJB2earMESH:D006943Hyperglycemia
HM01993GJB2earMESH:D007634Keratitiseye
HM01993GJB2earMESH:D012468Salivary Gland Neoplasms
HM01993GJB2earMESH:D016584Panic Disorder
HM01993GJB2earMESH:D009837Oligodendrogliomabrain
HM01993GJB2earMESH:D009837Oligodendrogliomabrain
HM01993GJB2earMESH:D009837Oligodendrogliomabrain
HM01993GJB2earMESH:D009837Oligodendrogliomaspinal cord
HM01993GJB2earMESH:D009837Oligodendrogliomabrain
HM01993GJB2earMESH:D006330Heart Defects, Congenital
HM01993GJB2earMESH:D016399Lymphoma, T-Cell
HM01993GJB2earMESH:D015674Mammary Neoplasms, Animal
HM01993GJB2earMESH:D008325Mammary Neoplasms, Experimental
HM01993GJB2earMESH:D001749Urinary Bladder Neoplasmsureter
HM01993GJB2earMESH:D001749Urinary Bladder Neoplasmsbladder
HM01993GJB2earMESH:D054556Venous Thromboembolism
HM01993GJB2earMESH:D007951Leukemia, Myeloidbone marrow
HM01993GJB2earMESH:D015473Leukemia, Promyelocytic, Acute
HM01993GJB2earMESH:D009101Multiple Myelomabone marrow
HM01993GJB2earMESH:D009402Nephrosis, Lipoidkidney
HM01993GJB2earMESH:D018221Fibromatosis, Abdominal
HM01993GJB2earMESH:D018222Fibromatosis, Aggressive
HM01993GJB2earMESH:D000230Adenocarcinoma
HM01993GJB2earMESH:D000230Adenocarcinomauterus
HM01993GJB2earMESH:D000230Adenocarcinoma
HM01993GJB2earMESH:D000230Adenocarcinoma
HM01993GJB2earMESH:D000230Adenocarcinomauterus
HM01993GJB2earMESH:D000230Adenocarcinomathyroid
HM01993GJB2earMESH:D000230Adenocarcinomaskin
HM01993GJB2earMESH:D000230Adenocarcinomaparathyroid gland
HM01993GJB2earMESH:D000230Adenocarcinomaliver
HM01993GJB2earMESH:D000230Adenocarcinomakidney
HM01993GJB2earMESH:D000230Adenocarcinomaeye
HM01993GJB2earMESH:D000230Adenocarcinomaadrenal gland
HM01993GJB2earMESH:D002972Cleft Palate
HM01993GJB2earMESH:D011507Proteinuriakidney
HM01993GJB2earMESH:D001172Arthritis, Rheumatoidbone
HM01993GJB2earMESH:D003638Deafness
HM01993GJB2earMESH:D004715Endometriosisuterus
HM01993GJB2earMESH:D004715Endometriosisovary
HM01993GJB2earMESH:D005234Fatty Liver
HM01993GJB2earMESH:D006258Head and Neck Neoplasmsthyroid
HM01993GJB2earMESH:D006258Head and Neck Neoplasmsskin
HM01993GJB2earMESH:D006258Head and Neck Neoplasmsparathyroid gland
HM01993GJB2earMESH:D006258Head and Neck Neoplasmslarynx
HM01993GJB2earMESH:D006258Head and Neck Neoplasmsear
HM01993GJB2earMESH:D006258Head and Neck Neoplasmsbrain
HM01993GJB2earMESH:D006333Heart Failureheart
HM01993GJB2earMESH:D000310Adrenal Gland Neoplasmsadrenal gland
HM01993GJB2earMESH:D000310Adrenal Gland Neoplasmsadrenal gland
HM01993GJB2earMESH:D019851Thrombophiliabone marrow
HM01993GJB2earOMIM:601544DEAFNESS, AUTOSOMAL DOMINANT 3A
HM01993GJB2earMESH:D008064Lipidoses
HM01993GJB2earMESH:D009190Myelodysplastic Syndromes
HM01993GJB2earMESH:D010382Peliosis Hepatisliver
HM01993GJB2earMESH:D001836Body Weight Changes
HM01993GJB2earMESH:D009232Myxoma
HM01993GJB2earMESH:D013119Spinal Cord Injuries
HM01993GJB2earMESH:D056487Drug-Induced Liver Injury, Chronicliver
HM01993GJB2earMESH:D006529Hepatomegaly
HM01993GJB2earMESH:D007680Kidney Neoplasmskidney
HM01993GJB2earMESH:D008181Lupus Nephritis
HM01993GJB2earMESH:D008545Melanomaeye
HM01993GJB2earMESH:D008545Melanomacervix
HM01993GJB2earMESH:D008545Melanomabone
HM01993GJB2earMESH:D011537Pruritus
HM01993GJB2earMESH:D014604Uveal Neoplasmseye
HM01993GJB2earMESH:D014625Vaginal Neoplasmsbone
HM01993GJB2earMESH:D014625Vaginal Neoplasms
HM01993GJB2earMESH:D001471Barrett Esophagusesophagus
HM01993GJB2earMESH:D052776Female Urogenital Diseases
HM01993GJB2earMESH:D008664Metal Metabolism, Inborn Errorsskin
HM01993GJB2earMESH:D008664Metal Metabolism, Inborn Errorsmuscle
HM01993GJB2earMESH:D008664Metal Metabolism, Inborn Errorsliver
HM01993GJB2earMESH:D008664Metal Metabolism, Inborn Errorskidney
HM01993GJB2earMESH:D009062Mouth Neoplasms
HM01993GJB2earMESH:D011297Prenatal Exposure Delayed Effects
HM01993GJB2earMESH:D018248Adenoma, Liver Cell
HM01993GJB2earMESH:D007569Jaw Abnormalities
HM01993GJB2earMESH:D013927Thrombosis
HM01993GJB2earMESH:D013959Thyroid Diseasesthyroid
HM01993GJB2earMESH:D000544Alzheimer Diseasenerve
HM01993GJB2earMESH:D001249Asthmalung
HM01993GJB2earMESH:D019636Neurodegenerative Diseasesnerve
HM01993GJB2earMESH:D012871Skin Diseasesskin
HM01993GJB2earMESH:D002471Cell Transformation, Neoplastic
HM01993GJB2earMESH:D006973Hypertensionlung
HM01993GJB2earMESH:D006973Hypertensionheart
HM01993GJB2earMESH:D006973Hypertensionblood vessel
HM01993GJB2earMESH:D018200Mixed Tumor, Mullerianbone
HM01993GJB2earMESH:D006558Herpes Genitalis
HM01993GJB2earMESH:D006965Hyperplasia
HM01993GJB2earMESH:D014652Vascular Diseasesspinal cord
HM01993GJB2earMESH:D014652Vascular Diseaseslung
HM01993GJB2earMESH:D014652Vascular Diseasesliver
HM01993GJB2earMESH:D014652Vascular Diseaseskidney
HM01993GJB2earMESH:D014652Vascular Diseasesblood vessel
HM01993GJB2earMESH:D020246Venous Thrombosis
HM01993GJB2earMESH:D006528Carcinoma, Hepatocellularliver
HM01993GJB2earMESH:D002318Cardiovascular Diseasesheart
HM01993GJB2earMESH:D002318Cardiovascular Diseasesbone marrow
HM01993GJB2earMESH:D002318Cardiovascular Diseasesblood vessel
HM01993GJB2earMESH:D018328Melanoma, Amelanotic
HM01993GJB2earMESH:D010024Osteoporosisbone
HM01993GJB2earMESH:D010051Ovarian Neoplasmsuterus
HM01993GJB2earMESH:D010051Ovarian Neoplasms
HM01993GJB2earOMIM:220290DEAFNESS, AUTOSOMAL RECESSIVE 1A
HM01993GJB2earOMIM:124500DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
HM01993GJB2earMESH:D005833Genital Neoplasms, Female
HM01993GJB2earMESH:D006470Hemorrhage
HM01993GJB2earMESH:D010911Pituitary Neoplasms
HM01993GJB2earMESH:D010911Pituitary Neoplasmspituitary
HM01993GJB2earMESH:D010911Pituitary Neoplasmspituitary
HM01993GJB2earMESH:D017681Hypereosinophilic Syndrome
HM01993GJB2earMESH:D016135Spinal Dysraphismspinal cord
HM01993GJB2earMESH:D004476Ectodermal Dysplasia
HM01993GJB2earMESH:D014985Xerophthalmiaeye
HM01993GJB2earMESH:D001161Arteriosclerosisblood vessel
HM01993GJB2earMESH:D011471Prostatic Neoplasmsprostate
HM01993GJB2earMESH:D015427Reperfusion Injury
HM01993GJB2earMESH:D003865Depressive Disorder, Major
HM01993GJB2earMESH:D007021Hypospadias
HM01993GJB2earMESH:D007674Kidney Diseasesureter
HM01993GJB2earMESH:D007674Kidney Diseasespituitary
HM01993GJB2earMESH:D007674Kidney Diseaseskidney
HM01993GJB2earMESH:D009765Obesity
HM01993GJB2earMESH:D015663Osteoporosis, Postmenopausal
HM01993GJB2earMESH:D000014Abnormalities, Drug-Induced