Genes?

Curated: N/A

Unreviewed: N/A

Curated: Anterior segment mesenchymal dysgenesis, Atrial fibrillation, Atrial flutter, Cardioembolic stroke, Cataract, Cataract-microcornea syndrome, Congenital cataract, Chromosome 1q21.1 deletion syndrome, Congenital sclerocornea, Congenital total cataract, Nuclear cataract, Sutural cataract, Gout, Microphthalmos, Schizophrenia, Scoliosis

Unreviewed: Adrenocortical carcinoma, Aortic Coarctation, Arthritis, Autism, Bicuspid aortic valve, Breast Cancer, Breast Carcinoma, Capsular cataract, Colorectal Cancer, Congenital Cataract, Congenital Coloboma Of Iris, Congenital heart defect, Congenital nystagmus, Congenital ocular coloboma, Corneal Dystrophy, Corneal opacity, Cortical cataract, Diabetes Mellitus, Disorder Of Eye, Epilepsy, Eye disease, Frontal bossing, Heart Diseases, Lymphedema, Lynch Syndrome, Malignant Neoplasm, Mental Disorders, Mental retardation, Metabolic Syndrome, Microcephaly, Microcornea, Multiple Congenital Anomalies, Myoclonic Epilepsy, Myopia, Neoplasms, Nystagmus, Obesity, Patent ductus arteriosus, Persistent truncus arteriosus, Pulverulent Cataract, Sclerocornea, Seizure, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Transposition Of Great Vessels, Vulval varices

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Hepatocellular carcinoma, Renal cell carcinoma, Cerebellar ataxia, Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Congenital pes cavus, Dejerine-sottas disease, Gout, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy, Liver neoplasms, Lung neoplasms, Peripheral neuropathy, Peroneal muscle atrophy, Prostate cancer, Roussy-levy syndrome, Sensory neuropathy, Spinocerebellar ataxia, x-linked, Diabetes mellitus type 2, X-linked progressive cerebellar ataxia

Unreviewed: Acute disseminated encephalomyelitis, Adenocarcinoma, Adenoma, Adrenoleukodystrophy, Adrenomyeloneuropathy, Amyotrophic Lateral Sclerosis, Ataxia, Atrophy, Brain ischemia, Breast Carcinoma, Breast neoplasm, Broca Aphasia, Carcinogenesis, Carcinoma, Central Nervous System Demyelination, Central nervous system disease, Cerebellar Ataxia, Cerebellar Ataxia, X-Linked, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, X-Linked, Chromophobe Carcinoma, Colon Carcinoma, Colonic Neoplasms, Congenital Pes Cavus, Craniosynostosis, Deafness, Demyelinating Diseases, Demyelinating neuropathy, Diabetic Nephropathy, Distal amyotrophy, Distal hereditary motor neuronopathy, Distal lower limb amyotrophy, Distal Muscular Atrophy, Distal upper limb amyotrophy, Drachtman Weinblatt Sitarz syndrome, Dysarthria, Dysautonomia, Dysphagia, Encephalitis, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Epilepsy, Gastritis, Glioblastoma, Guillain-Barre Syndrome, Hearing Loss, Hearing loss with stapes fixation, Hereditary Liability To Pressure Palsies, Hereditary motor and sensory neuropathy, Hereditary neuropathy with liability to pressure palsies, Hereditary sensory and autonomic neuropathy, Hereditary sensory and motor neuropathy, Hereditary spastic paraplegia, Hypokalemic Periodic Paralysis, Impaired Cognition, Inherited Peripheral Neuropathy, Intestinal disease, Kidney Cancer, Kidney Failure, Kidney neoplasm, Language Disorders, Leiomyoma, Leukodystrophy, Liver Cancer, Liver carcinoma, Liver failure, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Malignant Neoplasm, Motor delay, Mouth neoplasm, Movement Disorders, Multiple Sclerosis, Muscular dystrophy, Myeloid leukemia, Myocardial ischemia, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neuromuscular Diseases, Neuropathy, Nonsyndromic Deafness, Nystagmus, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Papillary Adenoma, Papillary Renal Carcinoma, Paraplegia, Parkinson disease, Partial Paralysis Vocal Cords, Peripheral nervous system disease, Peripheral Neuropathy, Polyneuropathy, Progressive External Ophthalmoplegia, Prostatic neoplasm, Renal Carcinoma, Renal fibrosis, Scoliosis, Sensorimotor neuropathy, Sensory Disorders, Sinusitis, Spinal Muscular Atrophy, Spinocerebellar Ataxia, Spinocerebellar Degeneration, Squamous cell carcinoma, Status Epilepticus, Stomach Carcinoma, Stomach Neoplasms, Tooth Diseases, Urinary bladder neoplasms, Uterine neoplasm

Curated: Autism, Isolated sensorineural deafness, Keratitis ichthyosis hearing loss syndrome, Nonsyndromic hearing loss, Bart-pumphrey syndrome, Conductive hearing loss, Congenital ear anomaly, Deafness, Deafness, digenic, Deafness, x-linked, Hearing loss, Hereditary hearing loss, Ichthyosis, Keratitis, Keratitis-ichthyosis-deafness syndrome, Noonan syndrome, Porokeratosis, Hearing loss with stapes fixation, Psoriasis, Senter syndrome, Skin neoplasms, Vohwinkel syndrome, Xeroderma, X-linked hearing loss with perilymphatic gusher, nonsyndromic genetic hearing loss

Unreviewed: Allergic rhinitis, Allergic Sensitization, Alopecia, Amniotic Bands, Anaplasia, Anophthalmia, Anxiety Disorder, Aphasia, Arthritis, Atrophy, Attention Deficit Hyperactivity Disorder, Auditory Neuropathy, Autoimmune lymphoproliferative disorder, Bartsocas-Papas syndrome, Bartter syndrome, Bladder carcinoma, Bladder Neoplasm, Bone disease, Brachydactyly, Brain malformation, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cataract, Cerebellar Hypoplasia, Charcot-Marie-Tooth Disease, Cholesteatoma, Classical Hodgkin lymphoma, Clinodactyly, Cochlear diseases, Cognitive disorder, Colonic disease, Colorectal Cancer, Colorectal neoplasm, Congenital Cataract, Congenital diaphragmatic hernia, Congenital Ichthyosis, Congenital omphalocele, Congenital Sensorineural Hearing Loss, Corneal erosion, Corneal Neovascularization, Corneal Ulcer, Coronary Heart Disease, Craniosynostosis, Cryptorchidism, Cystic Fibrosis, Dandy-Walker Syndrome, DEAFNESS, DIGENIC, Dermatologic Disorders, Development Disorder, Developmental Delay, Diabetic neuropathy, Down Syndrome, Drachtman Weinblatt Sitarz syndrome, Ductal carcinoma, Dupuytren contracture, Dwarfism, Dysequilibrium Syndrome, Dysmorphic Features, Dystonia, Ectodermal Dysplasia, Elbow flexion contracture, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid carcinoma, Endometriosis, Epidermolytic hyperkeratosis, Epidermolytic palmoplantar keratoderma, Epilepsy, Erosion Of Cornea, Esophageal Carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Exfoliative Dermatitis, Follicular Thyroid Carcinoma, Gaucher Disease, Glioma, Graft-Vs-Host Disease, Head and neck neoplasm, Head And Neck Neoplasms, Headache, Hearing Impairment, Hearing Loss, Heart Diseases, Hemiplegia/hemiparesis, Hemochromatosis, Hepatocellular carcinoma, Hidradenitis suppurativa, Hidrotic Ectodermal Dysplasia, Hirschsprung Disease, Hodgkin Disease, Horseshoe Kidney, Hyperkeratosis, Hyperkeratosis, Epidermolytic, Hyperthyroidism, Hypogonadotropic Hypogonadism, Hypohidrosis, Hystrix-like ichthyosis with deafness, Ichthyosis Follicularis Atrichia Photophobia Syndrome, Immune system disease, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Bowel Disease, Invasive Duct and Lobular Carcinoma, Irritable Bowel Syndrome, Keratitis ichthyosis and deafness syndrome, Keratitis ichthyosis deafness syndrome, Keratoconjunctivitis Sicca, Keratoderma Hereditarium Mutilans, Keratoderma With Deafness, KID Syndrome, Knuckle pads, deafness AND leukonychia syndrome, Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome, Language development disorders, Leukoplakia, Liver carcinoma, Liver neoplasms, Low-frequency hearing loss, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Lymphedema, Lymphoblastic Leukemia, Lymphoma, Lynch syndrome, Macrostomia, Major depressive disorder, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Melanocytic nevus, Melanoma, Meleda Disease, Meningioma, Mental retardation, Miscarriage, Mitochondrial disease, Mucolipidosis, Muscular dystrophy, Mutilating Keratoderma, Myeloid Leukemia, Nail Diseases, Nail dysplasia, Nail dystrophy, Neoplasms, Neuroblastoma, Nevus, Nocturia, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Obsessive-Compulsive Disorder, Optic atrophy, Osteoporosis, Ovarian neoplasm, Pachyonychia Congenita, Palmoplantar keratoderma, Palmoplantar Keratoderma with Deafness, Palmoplantar Keratosis, Palmoplantar Pustules, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Papillary thyroid carcinoma, Parkinson disease, Partial epilepsy, Pendred syndrome, Polycystic liver disease, Porokeratotic Eccrine Ostial And Dermal Duct Nevus, Prostate cancer, Prostatic Diseases, Prostatic Neoplasms, Pseudopelade, Psoriasis vulgaris, Psoriatic Arthritis, Pulmonary arterial hypertension, Punctate keratitis, Retinitis Pigmentosa, Rigidity And Multifocal Seizure Syndrome, Sclerodactyly, Sensorineural hearing loss, Sensory Disorders, Senter Syndrome, Sinusitis, Skin abnormalities, Skin cancer, Skin carcinoma, Skin disease, Skin Lesion, Skin Neoplasms, Sleep apnea, Small cell lung carcinoma, Specific Learning Disorder, Stomach Carcinoma, Stomach Neoplasms, Synophrys, Tay-Sachs Disease, Temporal hypotrichosis, Thyroid Gland Follicular Adenoma, Trichiasis, Triple Negative Breast Neoplasms, Urinary bladder cancer, Urinary bladder neoplasms, Urticaria, Usher Syndrome, Uterine Fibroids, Vestibular disease, Waardenburg Syndrome, XX Males

Curated: Isolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Autosomal dominant sensorineural deafness, Deafness, digenic, Dermatologic disorder, Erythrokeratodermia variabilis, Greither disease, Hearing loss, Hereditary hearing loss, Neuropathy, ataxia, and retinitis pigmentosa, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy, Peripheral neuropathy with sensorineural hearing impairment syndrome, Skin disease

Unreviewed: Alopecia, Brachydactyly, Cataract, Charcot-Marie-Tooth Disease, Classical Hodgkin lymphoma, Congenital Sensorineural Hearing Loss, DEAFNESS, DIGENIC, Dermatologic Disorders, Diabetes Mellitus, Dwarfism, Epilepsy, Erythrokeratoderma, Erythrokeratodermia Variabilis, Erythrokeratodermia Variabilis Et Progressiva, Glaucoma, Hearing Impairment, Hearing Loss, Hyperkeratosis, Hyperkeratosis, Epidermolytic, Keratitis ichthyosis deafness syndrome, Long QT Syndrome, Mental retardation, Microcephaly, Necrosis, Nervous system disease, Nervous System Diseases, Neuropathy, Neuropathy With Hearing Impairment, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Palmoplantar keratoderma, Papillary thyroid cancer, Patchy palmoplantar keratoderma, Peripheral Neuropathy, Skin Lesion, Skin Neoplasms, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Ulcerative colitis, Usher syndrome

Curated: Deafness, Erythrokeratodermia variabilis, Greither disease

Unreviewed: Alopecia, Alzheimer disease, Brachydactyly, Cataract, Dermatologic Disorders, Diabetes Mellitus, Dwarfism, Epidermolytic hyperkeratosis, Erythrokeratoderma, Erythrokeratodermia Variabilis, Erythrokeratodermia Variabilis Et Progressiva, Glaucoma, Hearing loss, Hyperkeratosis, Epidermolytic, HYPERTRICHOSIS, Lung Cancer, Lung carcinoma, Lung Neoplasms, Malignant Neoplasm, Mental retardation, Microcephaly, Neoplasms, Nonsyndromic Deafness, Palmoplantar keratoderma, Patchy palmoplantar keratoderma, Skin disease, Skin Lesion, Skin Neoplasms, Stomach Carcinoma, Stomach Neoplasms

Curated: Skin neoplasms

Unreviewed: Anophthalmia, Carcinoma, Larynx cancer, Neoplasms, Skin cancer, Skin Neoplasms, Small cell lung carcinoma

Curated: Astrocytoma, Isolated sensorineural deafness, Nonsyndromic hearing loss, Basal cell carcinoma, Central nervous system cancer, Clouston syndrome, Deafness, Deafness, x-linked, Ectodermal dysplasia, Glioblastoma, Glioma, Hearing loss, Hereditary hearing loss, Keratitis-ichthyosis-deafness syndrome, Hearing loss with stapes fixation, Senter syndrome, X-linked hearing loss with perilymphatic gusher

Unreviewed: Allergic rhinitis, Alopecia, Alopecia universalis, Aplasia Cutis Congenita, Arthritis, Atrichia, Atrophy, Breast Cancer, Breast Carcinoma, Carcinogenesis, Cardiovascular Diseases, Cataract, Cerebellar Hypoplasia, Cholesteatoma, Classical Hodgkin lymphoma, Cognitive disorder, Colorectal neoplasm, Congenital Long QT Syndrome, Congenital Sensorineural Hearing Loss, Conjunctivitis, Corneal erosion, Corneal Neovascularization, Craniosynostosis, Cryptorchidism, DEAFNESS, DIGENIC, Dermatologic Disorders, Development Disorder, Dupuytren contracture, Dwarfism, Dysequilibrium Syndrome, Epileptic encephalopathy, Head and neck neoplasm, Head And Neck Neoplasms, Hearing Loss, Heart Diseases, Hemiplegia/hemiparesis, Hidrotic Ectodermal Dysplasia, Hirschsprung Disease, Hypertension, Hypodontia, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Hypohidrotic Ectodermal Dysplasia, X-Linked, Hypotrichosis, Ichthyosis, Immunologic Deficiency Syndromes, Impaired Cognition, Incontinentia pigmenti syndrome, Keratitis, Keratitis ichthyosis and deafness syndrome, Keratitis ichthyosis deafness syndrome, KID Syndrome, Leukoplakia, Liver neoplasms, Lung adenocarcinoma, Lymphedema, Melanoma, Mental retardation, Mucolipidosis, Multiple Sclerosis, Muscular dystrophy, Myopathy, Nail Diseases, Nail dysplasia, Nail dystrophy, Neoplasms, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Oligodontia, Onychogryposis, Onycholysis, Optic Atrophy, Palmoplantar keratoderma, Palmoplantar Keratosis, Parkinson disease, Senter Syndrome, Sepsis, Skin carcinoma, Smith-Lemli-Opitz Syndrome, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Syndactyly of fingers, Urticaria, Vitiligo