6931
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Radial spoke head component 9 |
C6orf206, CILD12, MRPS18AL1 |
Curated: Brain aneurysm, Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 12
Unreviewed: Asplenia, Asthenozoospermia, Asthma, Bladder carcinoma, Bladder Neoplasm, Bronchiectasis, Carcinoma, Congenital Pectus Excavatum, Corneal Dystrophy, Cystic fibrosis, Dextrocardia, Dwarfism, Gastric Cancer, Hearing Loss, Hydrocephalus, Kartagener Syndrome, Lung Diseases, Nasal polyposis, Nasopharyngeal carcinoma, Otitis media, Rhinitis, Scoliosis, Sinusitis, Situs Inversus, Urinary bladder cancer
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6932
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R-spondin 1 |
CRISTIN3, RSPO |
Curated: Androgenetic alopecia, Epithelial ovarian carcinoma, Endometrial cancer, Endometrial neoplasms, Ovarian epithelial cancer, Open angle glaucoma, Ovarian cancer, Ovarian serous carcinoma, Scoliosis
Unreviewed: 46, XX Gonadal Sex Reversal, Adenoma, Anonychia, Anorexia, Breast Cancer, Breast Carcinoma, Carcinogenesis, Carcinoma, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Craniocerebral trauma, Diabetes, Diabetes Mellitus, Disorders of sex development, Ductal carcinoma, Ductal carcinoma of breast, Esophageal squamous cell carcinoma, Glioma, Graves ophthalmopathy, Gynecomastia, Hepatocellular carcinoma, Hypercholesterolemia, Hyperhidrosis Palmaris Et Plantaris, Hyperinsulinism, Hypertrophy Of Clitoris, Hypospadias, Laryngeal carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lupus Erythematosus, Lupus Vulgaris, Malignant Neoplasm, Mammary Neoplasms, Mental Depression, Myopia, Nail dystrophy, Neoplasms, Obesity, Orthokeratotic hyperkeratosis, Osteoarthritis, Osteopenia, Osteoporosis, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Ovotestis, Palmoplantar Hyperkeratosis And True Hermaphroditism, Palmoplantar Hyperkeratosis With Carcinoma Of Skin And Sex Reversal, Palmoplantar keratoderma, Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Carcinoma Syndrome, Palmoplantar Keratosis, Papillary thyroid cancer, Papillary thyroid carcinoma, Pseudohermaphroditism, Rheumatoid arthritis, Sclerodactyly, Sex Differentiation Disorders, Skin carcinoma, Small cell lung carcinoma, Squamous cell carcinoma, Stomach neoplasms, True Hermaphroditism, Vesicular Stomatitis, XX Males
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6933
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R-spondin 2 |
CRISTIN2, HHRRD, TETAMS2 |
Curated: Androgenetic alopecia, Lymphoblastic leukemia, Desbuquois syndrome, Dupuytren contracture, Oligodendroglioma, Prostate cancer, Tetra-amelia syndrome
Unreviewed: Adenocarcinoma, Agenesis Of Corpus Callosum, Alopecia, Alopecia, Male Pattern, Androgenetic Alopecia, Ankyloglossia, Arthritis, Atresia Of Vagina, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cataract, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Coloboma Of Iris, Congenital diaphragmatic hernia, Crohn Disease, Cryptorchidism, Endometrioid carcinoma, Fibrosarcoma, Gastric Cancer, Glioblastoma, Glossoptosis, Hepatocellular adenoma, Hepatocellular carcinoma, HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY, Hydrocephalus, Imperforate anus, Inflammatory Bowel Disease, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Malignant Peripheral Nerve Sheath Tumor, Microcornea, Micrognathism, Microphthalmos, Microstomia, Microtia, Multicystic renal dysplasia, Neoplasms, Neuroblastoma, Neurodegenerative disorder, Optic Atrophy, Oral cleft, Ossification Of The Posterior Longitudinal Ligament Of Spine, Osteoarthritis, Ovarian Failure, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Parkinson disease, Penis Agenesis, Pheochromocytoma, Pulmonary Fibrosis, Rheumatoid arthritis, Septo-Optic Dysplasia, Short clavicles, Sigmoid Cancer, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Tetraamelia, Tetraamelia syndrome, Thumb Aplasia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tongue carcinoma, Tracheal Stenosis, Triple negative breast cancer, Ventricular septal defect
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6934
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R-spondin 3 |
CRISTIN1, PWTSR, THSD2 |
Curated: Alzheimer disease, Androgenetic alopecia, Astrocytoma, Attention deficit hyperactivity disorder, Bone disease, Bone fracture, Breast neoplasms, Hepatocellular carcinoma, Cardiovascular disease, Central nervous system cancer, Obstructive pulmonary disease, Color vision deficiency, Coronary artery disease, Crohn disease, Endometriosis, Hypertension, Glioblastoma, Glioma, Inflammatory bowel disease, Metabolic syndrome, Nonalcoholic fatty liver disease, Osteoporosis, Sclerosing cholangitis, Diabetes mellitus type 2, Uterine fibroid
Unreviewed: Becker Muscular Dystrophy, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cholangiocarcinoma, Choriocarcinoma, Chronic disease, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Crohn Disease, Diabetes mellitus, type 2, Inflammatory Bowel Disease, Intestinal Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Neoplasms, Obesity, Papillary thyroid cancer, Prostate cancer, Pulmonary fibrosis, Pulmonary hypertension, Sclerosing Cholangitis, Urinary bladder cancer, Varicose veins, Vitelliform Macular Dystrophy
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6935
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R-spondin 4 |
C20orf182, CRISTIN4 |
Curated: Anonychia, Peripheral neuropathy, Hypertension
Unreviewed: Alzheimer disease, Anonychia Congenita Totalis, Breast Cancer, Breast Carcinoma, Ectodermal dysplasia, Esophageal neoplasm, Nail Diseases, Nail dystrophy, Papillary thyroid cancer, XX Males
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6936
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Ring finger and SPRY domain containing 1 |
SEMDFA |
Curated: Desbuquois syndrome, Spondyloepimetaphyseal dysplasia
Unreviewed: Brachydactyly, Congenital disorder of glycosylation, Congenital Epicanthus, Craniosynostosis, Dwarfism, Facial dysmorphism syndrome, Growth disorder, Mental retardation, Microcephaly, Microtia, Motor delay, Osteochondrodysplasia, Osteopenia, Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome, Ptosis, Pyle Metaphyseal Dysplasia, Skeletal Dysplasia, Slipped Capital Femoral Epiphyses, Spondylocostal dysostosis, Spondyloepiphyseal dysplasia, Strabismus, Thoracolumbar scoliosis
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6937
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Arginine and serine rich coiled-coil 1 |
BM-011, MRT70, SFRS21, SRrp53 |
Curated: Anorexia nervosa, Attention deficit hyperactivity disorder, Autism, Nonsyndromic intellectual disability, Bipolar disorder, Breast cancer, Obstructive pulmonary disease, Gout, Hypertension, Intellectual developmental disorder, Lung cancer, Major depressive disorder, Neuroblastoma, Neurotic disorder, Obesity, Obsessive-compulsive disorder, Schizophrenia, Substance abuse, Tourette syndrome, complex neurodevelopmental disorder
Unreviewed: Absence Of Septum Pellucidum, Anxiety Disorder, Attention Deficit Hyperactivity Disorder, Central Visual Impairment, Cerebral Atrophy, Chronic Obstructive Pulmonary Disease, Cortical Dysplasia, Developmental Delay, Dyskinetic Syndrome, Dyssomnia, Febrile seizures, Hypoplasia Of Corpus Callosum, Mental Depression, Mental retardation, Microcephaly, Motor delay, Nasopharyngeal Carcinoma, Neoplasms, Non-Syndromic Intellectual Disability, Polymicrogyria, Salaam Seizures, Seizure, Sleep Disorders, Stereotyped Behavior, Stomach Carcinoma, Stomach Neoplasms
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6938
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RSRC1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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6939
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Arginine and serine rich coiled-coil 2 |
- |
Curated: Autism, Neurodevelopmental disorder, Global developmental delay, Glomerulonephritis, Myopia, Neurotic disorder, Non-specific syndromic intellectual disability, Obesity, Strabismus
Unreviewed: Developmental Delay, Esophageal Carcinoma, Esophagus Neoplasm, Neoplasms, Neuroblastoma, Triple Negative Breast Neoplasms
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6940
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Arginine and serine rich protein 1 |
C1orf63, NPD014 |
Curated: Rh isoimmunization, Arrhythmogenic right ventricular cardiomyopathy, Hemolytic disease of fetus and newborn
Unreviewed: Anti-D Isoimmunization Affecting Pregnancy, Breast neoplasm, Carcinogenesis, Epithelial ovarian carcinoma, Erythroblastosis Fetalis, Hepatocellular carcinoma, Prostatic neoplasm
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