2776
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Patched 1 |
BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH, SLC65B1 |
Curated: Anophthalmia/microphthalmia-esophageal atresia syndrome, Asthma, Atrial fibrillation, Attention deficit hyperactivity disorder, Autism, Basal cell carcinoma, Basal cell nevus syndrome, Brain neoplasms, Breast cancer, Cataract, Obstructive pulmonary disease, Cleft lip, Cleft palate, Complete unilateral cleft lip, Congenital heart disease, Congenital hydrocephalus, Craniofacial abnormalities, Craniosynostosis, Dental caries, Estrogen-receptor negative breast cancer, Fraser syndrome, Gastrointestinal stromal tumor, Gorlin syndrome, Holoprosencephaly, Intellectual developmental disorder, Anterior segment dysgenesis, Major depressive disorder, Medulloblastoma, Microform holoprosencephaly, Syntelencephaly, Migraine, Myopia, Neurotic disorder, Osteoarthritis, Pancreatic neoplasms, Pancreatitis, Pituitary stalk interruption syndrome, Polydactyly, Rhabdomyosarcoma, Rieger syndrome, Schizoaffective disorder, Scoliosis, Semilobar holoprosencephaly, Septopreoptic holoprosencephaly, Skin neoplasms, Small vessel stroke, Turner syndrome, Diabetes mellitus type 2, nevoid basal cell carcinoma syndrome
Unreviewed: 9q22.3 Microdeletion, Accessory Rib, Acquired Kyphoscoliosis, Adenocarcinoma, Adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Alobar Holoprosencephaly, Ambiguous Genitalia, Ameloblastoma, Anaplasia, Anaplastic Carcinoma, Anaplastic thyroid cancer, Aneurysm, Anxiety Disorder, Arachnodactyly, Arnold-Chiari malformation, Arthritis, Astrocytoma, Ataxia Telangiectasia, Autoimmune Diseases, Autoimmune Thyroiditis, Barrett Epithelium, Basal Cell Neoplasm, Benign Neoplasm, Biliary Tract Cancer, Bladder carcinoma, Bladder Neoplasm, Bone disease, Bone marrow diseases, Brachycephaly, Brachydactyly, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Calcification of falx cerebri, Calcinosis, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma Of Vulva, Carcinoma, Somatic, Carcinosarcoma, Cardiac fibroma, Cardiac rhabdomyoma, Celiac disease, Cerebral Primitive Neuroectodermal Tumor, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cholangiocarcinoma, Chondrosarcoma, Choroideremia, Chronic Obstructive Pulmonary Disease, Cleft Lip With Or Without Cleft Palate, Cleft Palate And Bilateral Cleft Lip, Color Blindness, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Anomaly Of Neck, Congenital Chromosomal Disease, Congenital Coloboma Of Iris, Congenital Epicanthus, Congenital Exomphalos, Congenital Hypoplasia Of Penis, Congenital hypothyroidism, Congenital kyphoscoliosis, Congenital Pectus Excavatum, Congenital primary aphakia, Congenital Scoliosis, Craniopharyngioma, Cryptorchidism, Cushing syndrome, Cyclocephaly, Cylindromatosis, Cyst, Defect Of Skull Ossification, Delayed speech and language development, Dementia, Dermoid Cyst, Development Disorder, Developmental Delay, Developmental disability, Diabetes Mellitus, Diffuse Intrinsic Pontine Glioma, Down Syndrome, Duchenne Muscular Dystrophy, Ductal carcinoma, Duodenal Atresia, Dupuytren contracture, Dwarfism, Dysmorphic Features, Dysphagia, Dystonia, Embryonal Rhabdomyosarcoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometriosis, Ependymoblastoma, Epilepsy, Epithelioma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Expressive language delay, Eye abnormalities, Fanconi Anemia, Fibroma, Focal dermal hypoplasia, Follicular Thyroid Carcinoma, Frontal bossing, Fused incisors, Gardner Syndrome, Gastric Cancer, Glaucoma, Glioblastoma, Glioma, Gorlin Syndrome, Graves Disease, Growth disorder, Hashimoto Disease, Hemangioma, Hematuria, Hepatoblastoma, Hereditary cancer, Hereditary Cancer Syndrome, Hereditary Hemochromatosis, Hiatal Hernia, Hirschsprung Disease, Hydrocephalus, Hydronephrosis, Hyperaldosteronism, Hyperglycemia, Hyperopic astigmatism, Hyperplasia, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypoplasia of the maxilla, Hypoplasia Of Thumb, Hypothyroidism, Hypoxia, Impaired Cognition, Inflammatory Bowel Disease, Interfrontal Craniofaciosynostosis, Intracranial Neoplasm, Keratocystic Odontogenic Tumor, Kidney Neoplasm, Lagopthalmos, Leigh syndrome, Leiomyoma, Leukemia, Liver carcinoma, Liver Fibrosis, Liver neoplasms, Lobar Holoprosencephaly, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphocytic Leukemia, Macrocephaly, Macrotia, Malignant Histiocytoma, Malignant Mesothelioma, Malignant Neoplasm, Malocclusion, Mammary Neoplasms, Mandibuloacral Dysostosis, Medulloepithelioma, Medullomyoblastoma, Megalencephaly, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanocytic nevus, Melanoma, Meningioma, Mental retardation, Metabolic Syndrome, Metopic synostosis, Microcephaly, Microform Holoprosencephaly, Microphthalmos, Microstomia, Midline Interhemispheric Variant Of Holoprosencephaly, Monoclonal Gammapathies, Monosomy 9q22.3, Motor delay, Multinodular goiter, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple polyposis syndrome, Multiple Self-Healing Epithelioma, Myelodysplastic Syndrome, Myeloid Leukemia, Myotonic dystrophy, Myxofibroma, Neoplasms, Nephroblastoma, Neural Tube Defect, Neuroblastoma, Neuroectodermal Tumors, Neurofibromatosis, Neuroticism, Nevus, Niemann-Pick Disease, Obesity, Oculodentodigital dysplasia, Odontogenic Tumor, Oestrogen Receptor Positive Breast Cancer, Oral cleft, Orbital cyst, Orofacial cleft, Osteomyelitis, Osteoporosis, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian fibromata, Ovarian neoplasm, Pallister-Hall Syndrome, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatic Pseudocyst, Panhypopituitarism, Papillary thyroid cancer, Papillary thyroid carcinoma, Paraneoplastic Syndromes, Paroxysmal nonkinesigenic dyskinesia, Partial Or Complete Agenesis Of Corpus Callosum, Patent ductus arteriosus, Periauricular skin pits, Pierre-Robin Syndrome, Polycystic kidney disease, Polyposis Syndrome, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pulmonary Fibrosis, Renal agenesis, Renal Carcinoma, Renal cell carcinoma, Renal hypoplasia, Retinal Diseases, Rhabdoid tumor predisposition syndrome, Rhabdomyoma, Rheumatoid arthritis, Rib fusion, Robinow Syndrome, Russell-Silver Syndrome, Salivary gland neoplasms, Schilbach-Rott Syndrome, Sebaceous Adenocarcinoma, Sebaceous gland neoplasms, Segment dysgenesis, Semilobar Holoprosencephaly, Septopreoptic Holoprosencephaly, Skin cancer, Skin carcinoma, Skin disease, Skin Neoplasms, Sleep Apnea, Small cell carcinoma, Small cell lung carcinoma, Sphingomyelinase deficiency, Spina Bifida, Spina bifida occulta, Spongioblastoma, Sprengel Deformity, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Syndactyly Of The Toes, Syndromic microphthalmia, Synostotic Posterior Plagiocephaly, Tarsal-Carpal Coalition Syndrome, Tetralogy of Fallot, Thyroid cancer, Thyroid Carcinoma, Thyroid Diseases, Thyroid Gland Follicular Adenoma, Thyroid Gland Oncocytic Adenoma, Thyroid Hyperplasia, Thyroid Neoplasm, Thyroid Nodule, Thyroiditis, Trichohepatoenteric Syndrome, Trichotillomania, Trigonocephaly, Tumor, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Uterine Fibroids, Uterine neoplasm, Ventricular remodeling, West Syndrome, Wilms tumor, Xeroderma Pigmentosum
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2777
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Patched 2 |
PTC2, SLC65B2 |
Curated: Basal cell carcinoma, Commissural facial cleft, Duplication of pituitary gland, Gastrointestinal stromal tumor, Gorlin syndrome, Medulloblastoma, Tessier facial cleft, nevoid basal cell carcinoma syndrome
Unreviewed: Accessory Rib, Acquired Kyphoscoliosis, Anaplastic Carcinoma, Arachnodactyly, Basal Cell Neoplasm, Basal cell nevus syndrome, Brachycephaly, Brachydactyly, Calcification of falx cerebri, Carcinoma, Carcinoma, Somatic, Cardiac fibroma, Cardiac rhabdomyoma, Cataract, Colorectal neoplasm, Congenital Anomaly Of Neck, Congenital Coloboma Of Iris, Congenital Epicanthus, Congenital kyphoscoliosis, Cryptorchidism, Endometriosis, Frontal bossing, Glaucoma, Gorlin Syndrome, Hereditary Hemochromatosis, Hydrocephalus, Hypogonadotropic Hypogonadism, Keratocystic Odontogenic Tumor, Macrocephaly, Macrostomia, Malignant Neoplasm, Malocclusion, Medullomyoblastoma, Melanocytic nevus, Mental retardation, Microphthalmos, Motor delay, Myeloproliferative disorder, Neoplasms, Neuroblastoma, Oculodentodigital dysplasia, Oligodendroglioma, Orbital cyst, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian fibromata, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Polycystic ovary syndrome, Polydactyly, Pulmonary Hypertension, Rhabdomyosarcoma, Rheumatoid arthritis, Rib fusion, Schwannomatosis, Scoliosis, Skin cancer, Spina Bifida, Sprengel Deformity, Strabismus, T-cell leukemia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Uterine neoplasm
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2778
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Patched domain containing 1 |
AUTSX4, CXDELp22.11, DELXP22.11, SLC65C1 |
Curated: Atrial fibrillation, Autism, Autism, x-linked, Cardiac arrhythmia, Developmental disability, Intellectual developmental disorder, Intellectual developmental disorder, x-linked, Neurodevelopmental disorder, X-linked intellectual disability, Depression, X-linked complex neurodevelopmental disorder
Unreviewed: Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Breast neoplasm, Developmental Delay, Dysmorphic Features, Endometrial neoplasm, Epilepsy, Facial paralysis, Impaired Cognition, Macrocephaly, Meckel Diverticulum, Mental retardation, Mental Retardation, X-Linked, Movement Disorders, Neurodevelopmental Disorders, Neurosensory Hearing impairment, Night blindness, congenital stationary, Non-Syndromic Intellectual Disability, X-Linked, Obesity, Seizure, Syndactyly Of The Toes
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