821
|
|
|
ERCC excision repair 6, chromatin remodeling factor |
ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1 |
Curated: Arthrogryposis, Arthrogryposis multiplex congenita, Cataract, Cerebrooculofacioskeletal syndrome, Cockayne syndrome, Craniofacial abnormalities, De sanctis-cacchione syndrome, Growth disorder, Hearing loss, Lung cancer, Lung neoplasms, Macular degeneration, Age-related macular degeneration, Microcephaly, Microphthalmos, Premature ovarian failure, Psychiatric disorders, Uv-sensitive syndrome
Unreviewed: Acquired Kyphoscoliosis, Agenesis Of Corpus Callosum, Anhidrosis, Atrial Fibrillation, Basal cell carcinoma, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cerebellar ataxia, Cerebellar atrophy, Cerebellar Hypoplasia, Cerebral Atrophy, Cerebral cortical atrophy, Cerebrooculofacioskeletal Syndrome, Choreoathetosis, Cockayne Syndrome, COFS Syndrome, Cognition disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Camptodactyly, Congenital kyphoscoliosis, Congenital Microcephaly, Congestive Heart Failure, Conjunctivitis, Cortical cataract, Craniocerebral trauma, Craniosynostosis, Cryptorchidism, De Sanctis-Cacchione Syndrome, Dwarfism, Dysmorphic Features, Ectropion, Elbow flexion contracture, Endometriosis, Entropion, Gastritis, Glioblastoma, Glioma, Glycogen Storage Disease, Gonadal hypoplasia, Hamartoma, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Huntington Disease, Hydrocephalus, Hyperopia, Hypersexuality, Hypertension, Hypogonadism, Hypoplasia Of Iris, Hypoplasia of teeth, Hypoxia, Intellectual developmental disorder, Keratitis, Laryngeal carcinoma, Larynx cancer, Leukodystrophy, Lip and Oral Cavity Carcinoma, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Malignant Neoplasm, Malignant neoplasm of mouth, Malnutrition, Malocclusion, Melanoma, Mental retardation, Microcornea, Micrognathism, Microlissencephaly, Mitochondrial disease, Mouth Neoplasms, Movement Disorders, Myelodysplastic Syndrome, Myeloid leukemia, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Nystagmus, Oculocerebrorenal syndrome, Olivopontocerebellar Atrophies, Optic Atrophy, Osteoporosis, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Failure, Ovarian neoplasm, Penis Agenesis, Poikiloderma, Polyneuropathy, Premature aging, Premature Menopause, Premature Ovarian Failure, Progeria, Prostate cancer, Prostatic neoplasm, Psychomotor Disorders, Renal Insufficiency, Retinitis Pigmentosa, Secondary Physiologic Amenorrhea, Skin cancer, Skin Carcinoma, Skin neoplasm, Sleep Apnea, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Talipes, Thyroid Carcinoma, Trichohepatoenteric Syndrome, Trichothiodystrophy, Urinary bladder cancer, Urinary bladder neoplasms, UV-Sensitive Syndrome, Vertical Talus, Werner syndrome, Xeroderma Pigmentosum
|
822
|
|
|
ERCC excision repair 6 like, spindle assembly checkpoint helicase |
PICH, RAD26L |
Curated: N/A
Unreviewed: Autism, Breast Cancer, Breast Carcinoma, Cerebral Infarction, Chromophobe Carcinoma, Colorectal Cancer, Epithelioma, Esophageal squamous cell carcinoma, Glioma, Hepatocellular carcinoma, Hypertension, Immunologic Deficiency Syndromes, Kidney Cancer, Lung neoplasms, Lymphatic metastasis, Malignant Neoplasm, Neoplasms, Prostatic neoplasm, Renal Carcinoma, Triple Negative Breast Neoplasms
|
823
|
|
|
ERCC excision repair 6 like 2 |
BMFS2, C9orf102, HEBO, RAD26L, SR278 |
Curated: Amyotrophic lateral sclerosis, Bone marrow failure syndromes, Obstructive pulmonary disease, Congenital bone marrow failure syndrome, Growth hormone insensitivity syndrome with immune dysregulation, Pancytopenia, Thrombocytopenia
Unreviewed: Amyotrophic Lateral Sclerosis, Anemia, Anxiety Disorder, Bone marrow failure syndrome, Developmental Delay, Diabetes mellitus, Fanconi anemia, Hematologic neoplasm, Hypotonia, Inherited Bone Marrow Failure Syndrome, Leukopenia, Mental Depression, Microcephaly, Myelodysplastic syndrome, Myeloid Leukemia, Neural tube defect, Pancytopenia-developmental delay syndrome, Parkinson disease
|
824
|
|
|
ERCC6L2 antisense RNA 1 |
C9orf130, LINC00476, NAG11, NAG12 |
Curated: N/A
Unreviewed: N/A
|
825
|
|
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
CKN1, CSA, UVSS2 |
Curated: Alzheimer disease, Cockayne syndrome, Congenital neurologic anomalies, Deafness, Mitochondrial complex deficiency, Schizophrenia, Uv-sensitive syndrome
Unreviewed: Adrenoleukodystrophy, Anemia, Anhidrosis, Breast neoplasm, Cardiomyopathy, Carpal Tunnel Syndrome, Cataract, Cerebellar Ataxia, Cerebellar atrophy, Cerebral Atrophy, Cockayne Syndrome, Colorectal neoplasm, Congenital Chromosomal Disease, Congenital Pes Cavus, Congestive Heart Failure, Craniocerebral trauma, Craniosynostosis, Cryptorchidism, Dementia, Developmental dysplasia of the hip, Diabetes Mellitus, Dilated cardiomyopathy, Dwarfism, Dysarthria, Gastritis, Hamartoma, Hearing Loss, Heart disease, Heart Failure, Hydrocephalus, Hyperopia, Hypertension, Hyperuricemia, Hypogonadism, Hypoplasia of teeth, Hypoxia, Keratoconus, Kidney Disease, Kidney Failure, Leukodystrophy, Malignant Neoplasm, Malocclusion, Mental retardation, Microcephaly, Myeloproliferative disorder, Myocardial Infarction, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Nystagmus, Oculomotor apraxia, Optic Atrophy, Osteosarcoma, Penis Agenesis, Polyneuropathy, Premature aging, Prostatic neoplasm, Renal Insufficiency, Retinitis Pigmentosa, Sleep Apnea, Squamous cell carcinoma, Stomach Carcinoma, Stomach Diseases, Stomach Neoplasms, Strabismus, UV-Sensitive Syndrome, Vesicular Stomatitis, Xeroderma Pigmentosum
|
826
|
|
|
ERCC8 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: Cockayne Syndrome
|
827
|
|
|
Expanded repeat domain, CAG/CTG 1 |
- |
Curated: N/A
Unreviewed: Bipolar Disorder, Major Affective Disorder, Mental Depression, Mood Disorder, Parkinson disease, Schizophrenia, Spinocerebellar Ataxia
|
828
|
|
|
Epiregulin |
EPR, ER, Ep |
Curated: Attention deficit hyperactivity disorder, Hepatocellular carcinoma, Erythropoietic protoporphyria, Ovarian neoplasms, Creutzfeldt-jakob disease
Unreviewed: Adenocarcinoma, Adenoid cystic carcinoma, Adenoma, Adrenocortical carcinoma, Amyloidosis, Amyotrophic Lateral Sclerosis, Anaplasia, Angiofibroma, Anophthalmia, Anxiety disorder, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Barrett esophagus, Basal cell carcinoma, Behcet disease, Behcet Syndrome, Beta thalassemia, Bone disease, Bone neoplasm, Brain neoplasms, Breast Cancer, Breast fibrocystic disease, Breast neoplasm, Cancer, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular disease, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebrovascular disorder, Cholangiocarcinoma, Cholesteatoma, Chondrosarcoma, Chromosomal instability, Chronic obstructive pulmonary disease, Cognition disorder, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Contractural Arachnodactyly, Critical illness, Crohn disease, Cystic fibrosis, Dermatitis, Diabetes, Diabetes Mellitus, Diabetic Nephropathy, Ductal carcinoma, Ductal carcinoma of breast, Endocrine system disease, Endometrial hyperplasia, Endometrial neoplasm, Endometrioid carcinoma, Endometriosis, Eosinophilia, Epidermolytic hyperkeratosis, Epithelial ovarian carcinoma, Erythropoietic Protoporphyria, Esophageal squamous cell carcinoma, Exanthema, Ferrochelatase Deficiency, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Gliosarcoma, Gout, Graves ophthalmopathy, Hamartoma, Heart disease, Hematologic Neoplasms, Hemihyperplasia, Hemochromatosis, Hepatitis b, Hereditary angioedema, Hereditary breast and ovarian cancer syndrome, Hyperplasia, Hypertrophy, Hypoxia, Idiopathic pulmonary fibrosis, Immune System Diseases, Immunologic Deficiency Syndromes, Intraductal noninfiltrating carcinoma, Intraepithelial Neoplasia, Kaposi Sarcoma, Kidney disease, Leiomyoma, Leiomyosarcoma, Leukemia, Lissencephaly, Liver carcinoma, Liver neoplasm, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphedema, Lymphoma, Major depressive disorder, Male breast neoplasms, Malignant Histiocytoma, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Meningioma, Middle ear cholesteatoma, Migraine, Mitochondrial disease, Mouth neoplasm, Mucolipidosis, Multiple myeloma, Multiple sclerosis, Myeloid leukemia, Nasal polyp, Nasal polyposis, Necrosis, Neoplasms, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neurofibromatosis, Obesity, Oculocutaneous albinism, Oestrogen Receptor Positive Breast Cancer, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian hyperstimulation syndrome, Ovarian neoplasm, Pachyonychia congenita, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Pancreatitis, Papillary thyroid cancer, Papilloma, Parkinson disease, Peritonitis, Persistent truncus arteriosus, Polycystic Ovary Syndrome, Polycythemia vera, Promyelocytic leukemia, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Proteinuria, Renal cell carcinoma, Respiration Disorders, Rheumatoid arthritis, Salivary gland neoplasms, Schizophrenia, Seizures, Sinusitis, Skin disease, Skin Neoplasms, Sleep Apnea, Small cell lung carcinoma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Syndromic microphthalmia, Temporomandibular Joint Disorders, Teratoid Rhabdoid Tumor, Thyroid cancer, Thyroid hormone resistance, Transitional cell carcinoma, Trigeminal neuralgia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tuberous sclerosis complex, Uranostaphyloschisis, Urinary bladder neoplasms, Uterine neoplasm, Uterine polyp, Varicose veins, Wilms tumor
|
829
|
|
|
ETS2 repressor factor |
CHYTS, CRS4, PE-2, PE2 |
Curated: Craniofacial abnormalities, Craniofacial dysostosis, Craniosynostosis, Crouzon syndrome, Desbuquois syndrome, Language development disorders, Neurodevelopmental disorder, Noonan syndrome, Ocular hypotension, Parieto-occipital craniosynostosis, Prostatic neoplasms, craniosynostosis 4
Unreviewed: N/A
|
830
|
|
|
Erythroferrone |
C1QTNF15, CTRP15, FAM132B |
Curated: N/A
Unreviewed: Adrenocortical carcinoma, Anemia, beta Thalassemia, Breast neoplasm, Carcinogenesis, Congenital dyserythropoietic anemia, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Diabetes, Diabetes Mellitus, Endometrial neoplasm, Erythroid hyperplasia, Fatty Liver, Hemorrhage, Hereditary xerocytosis, Hodgkin Disease, Huntington Disease, Iron deficiency anemia, Iron Overload, Kidney Disease, Kidney Failure, Metabolic Syndrome, Myelodysplastic Syndrome, Myocardial Infarction, Obesity, Polycythemia Vera, Xerocytosis
|