441
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HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
MDFPMR, p532, p619 |
Curated: Atrial fibrillation, Attention deficit hyperactivity disorder, Obstructive pulmonary disease, Dental caries, Intellectual developmental disorder, Major depressive disorder, Metabolic syndrome, Neurodevelopmental disorder, Neurotic disorder, Substance abuse, Diabetes mellitus type 2
Unreviewed: Age-related macular degeneration, Angelman Syndrome, Arachnodactyly, Atrial Fibrillation, Autism, Autism Spectrum Disorder, Cerebellar atrophy, Cerebellar diseases, Chronic Obstructive Pulmonary Disease, Colorectal neoplasm, Corpus callosum agenesis, Developmental Delay, Facial dysmorphism, Frontal bossing, High palate, Leukemia, Lobular carcinoma, Lymphocytic Leukemia, Macrocephaly, Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation, Macrotia, Malocclusion, Megalencephaly Kyphoscoliosis-Overgrowth Syndrome, Mental Depression, Mental retardation, Myeloid leukemia, Neurodegenerative disorder, Paroxysmal atrial fibrillation, Posteriorly Rotated Ear, Proptosis, Scoliosis, Seizures, T-Cell Prolymphocytic Leukemia
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442
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HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
D15F37S1, MRT38, SHEP1, jdf2, p528 |
Curated: Alzheimer disease, Asthma, Eczema, Cerebellar atrophy, Basal cell carcinoma, Eye neoplasms, Cataract, Ulcerative colitis, Colorectal cancer, Conjunctivitis, Corneal astigmatism, Melanoma, Macular and posterior pole degeneration, Developmental delay with autism spectrum disorder, Erythematosquamous dermatosis, Eye disease, Glaucoma, Global developmental delay, Intellectual developmental disorder, Keratinocyte carcinoma, Macular degeneration, Multiple myeloma, Non-melanoma skin carcinoma, Non-small cell lung carcinoma, Open angle glaucoma, Osteoarthritis, Prader-willi syndrome, Primary angle closure glaucoma, Rosacea, Sebaceous gland disease, Seborrheic dermatitis, Intellectual disability, Skin cancer, Skin disease, Skin neoplasms, Skin hair eye pigmentation variation, Squamous cell carcinoma, Diabetes mellitus type 2, Uveal melanoma, Uveitis, Vitiligo
Unreviewed: Acromicria, Acromicric Dysplasia, Angelman Syndrome, Astigmatism, Attention Deficit Hyperactivity Disorder, Autism, Autism spectrum disorder, Basal Cell Neoplasm, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Carcinoma, Clinodactyly, Colonic Neoplasms, Color vision deficiency, Colorectal Cancer, Colorectal Neoplasms, Crohn Disease, Cryptorchidism, Developmental Delay, Developmental Delay With Autism Spectrum Disorder And Gait Instability, Developmental disability, Diabetes Mellitus, Dolichocephaly, Dwarfism, Ectodermal dysplasia, Epidermal nevus, Frontometaphyseal dysplasia, Glioma, Hand Flapping, Hyperinsulinism, Hyperopia, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Hypotonia, Isolated Somatotropin Deficiency, Liposarcoma, Lung carcinoma, Malignant Neoplasm, Malocclusion, Mammary Neoplasms, Mental retardation, Motor delay, Myopia, Nervous system disease, Neuroblastoma, Neurodevelopmental Disorders, Ocular albinism, Oculocutaneous albinism, Paroxysmal ventricular fibrillation, Penis Agenesis, Physiologic Amenorrhea, Plagiocephaly, Prader-Willi Syndrome, Prostatic neoplasm, Retinal detachment, Royer Syndrome, Sarcoidosis, Schizophrenia, Scoliosis, Skin carcinoma, Skin neoplasm, Sleep Apnea, Somatotropin Deficiency, Specific Learning Disorder, Strabismus, T-Cell Prolymphocytic Leukemia, Xeroderma Pigmentosum
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