1661
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Rac/Cdc42 guanine nucleotide exchange factor 6 |
COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX |
Curated: Autism, Congenital anomalies of the kidney and urinary tract, Childhood ataxia with cns hypomyelination, Neurodevelopmental disorder, Congenital anomalies of kidney and urinary tract, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Non-specific syndromic intellectual disability, X-linked intellectual disability
Unreviewed: Attention Deficit Hyperactivity Disorder, Borjeson-Forssman-Lehmann Syndrome, Colorectal neoplasm, Crohn Disease, Developmental Delay, Facial paralysis, Glioblastoma, Glioma, Hearing loss with stapes fixation, Inflammatory Bowel Disease, Macrocephaly, Meckel Diverticulum, Mental retardation, Mental Retardation, X-Linked, Myeloid leukemia, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Obesity, Schizophrenia, Seizure, Syndactyly Of The Toes, Ulcerative colitis
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1662
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Rho guanine nucleotide exchange factor 7 |
BETA-PIX, COOL-1, COOL1, Nbla10314, P50, P50BP, P85, P85COOL1, P85SPR, PAK3, PIXB |
Curated: Insomnia, Retinopathy of prematurity
Unreviewed: Adenocarcinoma, Agenesis Of Corpus Callosum, Amyloidosis, Amyotrophic Lateral Sclerosis, Anaplastic Lymphoma, Anxiety Disorder, Aortic Valve Insufficiency, Arthritis, Astrocytoma, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorder, B-Cell Lymphoma, Bipolar Disorder, Borderline personality disorder, Borjeson-Forssman-Lehmann Syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Carcinogenesis, Carcinoma Of The Head And Neck, Cerebral Aneurysm, Cerebral Infarction, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chronic Obstructive Pulmonary Disease, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Common Variable Immunodeficiency, Congenital Contractural Arachnodactyly, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Crohn Disease, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diffuse Lymphoma, Down Syndrome, Ectodermal Dysplasia, Ectopic ACTH secretion syndrome, Endometrial Cancer, Endometrial carcinoma, Epilepsy, Erythrocytosis, Esophageal Cancer, Ewing sarcoma, Exfoliation Syndrome, Facial paralysis, Fibrodysplasia Ossificans Progressiva, Fibrosarcoma, Glaucoma, Glioblastoma, Glioma, Head and neck cancer, Head And Neck Carcinoma, Hemoglobinopathy, High palate, Hodgkin Disease, Hodgkin Lymphoma, Hydrocephalus, Hyperglycemia, Hypertension, Hypoxia, Immune system disease, Impaired Cognition, Intellectual developmental disorder, Keratoconjunctivitis, Kidney Cancer, Kidney Disease, Leukemia, Leukopenia, Lichen amyloidosis, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lupus Erythematosus, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Disorder, Macrocephaly, Macrotia, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Meckel Diverticulum, Melanoma, Mental Disorders, Mental retardation, Mental Retardation, X-Linked, Mesothelioma, Metabolic Syndrome, Metastatic Melanoma, Microcephaly, Mood Disorder, Mucosa-associated lymphoma, Multiple myeloma, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neuroendocrine Tumors, Neurosensory Hearing impairment, Neutropenia, Non-Syndromic Intellectual Disability, X-Linked, Nonorganic Psychosis, Obesity, Ocular Hypertension, Oestrogen Receptor Positive Breast Cancer, Osteopetrosis, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Partington syndrome, Pelvic Organ Prolapse, Perry Syndrome, Polycystic Ovary Syndrome, Polycythemia, Polycythemia Vera, Prostate cancer, Prostatic neoplasm, Psychosis, Psychotic disorders, Pulmonary edema, Pulmonary Fibrosis, Renal Carcinoma, Respiratory system infectious disease, Rheumatoid arthritis, Schizoaffective Disorder, Schizophrenia, Scleroderma, Seizure, Septicemia, Sezary Syndrome, Sinusitis, Speech Disorders, Spinal Muscular Atrophy, Steroid resistant nephrotic syndrome, Steroid-Sensitive Nephrotic Syndrome, Stomach neoplasms, Stroke, Syndactyly Of The Toes, Syndromic microphthalmia, Systemic sclerosis, T-Cell Lymphoma, Testicular Germ Cell Tumor, Thrombosis, Thyroid Carcinoma, Tongue carcinoma, Tubular Aggregate Myopathy, Ulcerative colitis, Urothelial Carcinoma, Uterine neoplasm, Uveitis
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1666
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Cdc42 guanine nucleotide exchange factor 9 |
COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2 |
Curated: Androgenetic alopecia, Autism, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy, Global developmental delay, Hyperekplexia epilepsy syndrome, Hypogonadism, Intellectual developmental disorder, X-linked complex neurodevelopmental disorder, X-linked intellectual disability
Unreviewed: Alopecia, Anxiety Disorder, Autism spectrum disorder, Behavior Disorders, Brain disease, Colorectal neoplasm, Developmental regression, Dyscognitive seizures, Dysmorphic Features, Epileptic encephalopathy, Fragile X Syndrome, Glioma, Hallucinations, Hyperekplexia, Hyperekplexia-Epilepsy Syndrome, Learning disorders, Liver carcinoma, Mental retardation, Neurodevelopmental Disorders, Psychiatric disorders, Seizure, Seizures, Speech Delay, Trigonocephaly
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1670
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AT-rich interaction domain 1A |
B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1 |
Curated: Alzheimer disease, Breast neoplasms, Burkitt lymphoma, Adenoid cystic carcinoma, Hepatocellular carcinoma, Transitional cell carcinoma, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Cholangiocarcinoma, Bronchitis, Obstructive pulmonary disease, Clonal cytopenia of undetermined significance, Coffin-siris syndrome, Colorectal neoplasms, Endometrial neoplasms, Hyperlipidemia, Gout, Non-immune hydrops fetalis, Intellectual developmental disorder, Metabolic syndrome, Nasopharyngeal carcinoma, Neuroblastoma, Neurodevelopmental disorder, Prostatic neoplasms, Rhabdomyosarcoma, Septo-optic dysplasia, Sezary syndrome, Amyotrophic lateral sclerosis, Stomach neoplasms, Diabetes mellitus type 2, Upper extremity fracture, Urinary bladder neoplasms, Wilms tumor
Unreviewed: Adenocarcinoma, Adrenal Gland Pheochromocytoma, African Burkitt`s Lymphoma, Anaplasia, Aneuploidy, Anodontia, Anus neoplasm, Aortic Coarctation, Astrocytoma, Atrial Fibrillation, Atrial Septal Defect, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Bile duct neoplasms, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast fibrocystic disease, Breast neoplasm, Burkitt`s Lymphoma, Capsular cataract, Carcinogenesis, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Cataract, Central hypothyroidism, Cerebellar Hypoplasia, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Chordoma, Chronic obstructive pulmonary disease, Coffin-Siris Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Chromosomal Disease, Congenital Clubfoot, Congenital Contractural Arachnodactyly, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defects, Congestive Heart Failure, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Desmoplastic small round cell tumor, Developmental Delay, Developmental disability, Diffuse Lymphoma, Double Outlet Right Ventricle, Dubowitz syndrome, Ductal Carcinoma, Dwarfism, Ectodermal dysplasia, Ectopic kidney, Ectrodactyly, Embryonal Rhabdomyosarcoma, Endocrine system disease, Endometrial Adenocarcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrial Stromal Sarcoma, Endometrioid cancer, Endometrioid carcinoma, Endometrioma, Endometriosis, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Familial cylindromatosis, Fatty Liver, Febrile seizures, Gallbladder neoplasm, Gastric Cancer, Gastritis, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Glioma, Glucocorticoid Receptor Deficiency, Glucocorticoid receptor deficiency/resistance, Graft-versus-host disease, Granulomatous Slack Skin, Growth disorder, Heart Failure, High palate, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperplasia, HYPERTRICHOSIS, Hypoalphalipoproteinemia, Hypoplasia Of Corpus Callosum, Hypoplastic aortic arch, Hypoplastic Left Heart Syndrome, Hypoplastic tricuspid valve, Hypotrichosis, Inflammatory bowel disease, Intestinal disease, Intraductal noninfiltrating carcinoma, Intrahepatic Cholangiocarcinoma, Intrahepatic cholestasis, Invasive Duct and Lobular Carcinoma, Juvenile arthritis, Kidney Cancer, Kidney neoplasm, Leukemia, Liposarcoma, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung adenocarcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphoma, Lymphoproliferative syndrome, Lynch Syndrome, Macroglossia, Macrostomia, Male breast neoplasms, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Mammary Neoplasms, Mantle Cell Lymphoma, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Microcephaly, Mouth disease, Mucinous Adenocarcinoma, Multiple myeloma, Multiple polyposis syndrome, Multiple Trichoepithelioma, Myeloid leukemia, Myelokathexis, Myocardial ischemia, Nasopharyngeal Cancer, Neoplasms, Nephroblastoma, Neural Tube Defect, Neuroendocrine Tumors, Nicolaides Baraitser Syndrome, Niemann-Pick Disease, Non-alcoholic Fatty Liver Disease, Nystagmus, Obesity, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Carcinoma, Ovarian cysts, Ovarian diseases, Ovarian endometrioid carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Parkinson disease, Partial Agenesis Of Corpus Callosum, Partial epilepsy, Patent ductus arteriosus, Penile neoplasm, Peritonitis, Periventricular Leukomalacia, Pituitary adenoma, Polycystic kidney disease, Progesterone Resistance, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Renal Carcinoma, Renal cell carcinoma, Respiratory system infectious disease, Retinoblastoma, Rhabdoid tumor, Sarcoma, Schnyder crystalline corneal dystrophy, Schwannomatosis, Sclerosing Cholangitis, Scoliosis, Sezary Syndrome, Sleep Apnea, Small cell carcinoma, Speech Disorders, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach disease, Stomach Diseases, Stomach Neoplasms, Strabismus, Syndromic microphthalmia, Systemic mastocytosis, T-Cell Lymphoma, Tarsal-Carpal Coalition Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turcot syndrome, Ulcerative colitis, Urinary bladder cancer, Urologic neoplasm, Urothelial Carcinoma, Uterine cervix neoplasm, Uterine neoplasm, Uveitis, Ventricular septal defect, Waldenstrom macroglobulinemia, Waldenstrom`s Macroglobulinemia
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