3015
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PYD and CARD domain containing |
ASC, CARD5, TMS, TMS-1, TMS1 |
Curated: Calcinosis, Hepatocellular carcinoma, Large cell carcinoma, Non-small-cell lung carcinoma, Small cell carcinoma, Squamous cell carcinoma, Colorectal neoplasms, Heart valve disease, Heart valve prolapse, Hyperhomocysteinemia, Kidney disease, Lung neoplasms, Mesothelioma, Stomach neoplasms
Unreviewed: Adenocarcinoma, Adenoma, Alzheimer disease, Amyloidosis, Androgen-Insensitivity Syndrome, Angioimmunoblastic T-cell lymphoma, Anxiety Disorder, Aortic Aneurysm, Arteriosclerosis, Arthritis, Asthma, Astigmatism, Astrocytoma, Atherosclerosis, Atopic dermatitis, Autism, B-Cell Lymphoma, Behcet Syndrome, Benign Prostatic Hyperplasia, Bipolar disorder, Bladder carcinoma, Bladder Neoplasm, Brain Infarction, Brain injuries, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cardiac valvular disease, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Cholangitis, Cholesteatoma, Cirrhosis, Colitis, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congestive Heart Failure, Cryopyrin-Associated Periodic Syndromes, Cutaneous mastocytosis, Cystic Fibrosis, Dementia, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic cardiomyopathy, Diabetic Nephropathy, Diffuse Lymphoma, Duchenne muscular dystrophy, Ductal carcinoma, Encephalitis, Epidermodysplasia Verruciformis, Epilepsy, Esophageal neoplasm, Fatty Liver, Fatty liver, alcoholic, Fibrosarcoma, Friedreich Ataxia, Gastric Cancer, Gingival diseases, Glioblastoma, Glioma, Heart Failure, Huntington Disease, Hyperandrogenism, Hypoxia, Ichthyosis, Immune Thrombocytopenic Purpura, Inflammatory Bowel Disease, Intervertebral disc disease, Intestinal Diseases, Intraepithelial Neoplasia, Ischemic stroke, Kawasaki disease, Keratoconus, Kidney Cancer, Kidney Disease, Language Disorders, Laryngeal Carcinoma, Leukemia, Liver carcinoma, Liver Cirrhosis, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lupus nephritis, Lymphatic metastasis, Lymphoma, Macular degeneration, Malignant Mesothelioma, Malignant Neoplasm, Mammary Neoplasms, Melanocytic nevus, Melanoma, Memory Disorders, Mental Depression, Mental Disorders, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Migraine, Mitochondrial disease, Multiple sclerosis, Multiple Sulfatase Deficiency, Myelodysplastic Syndrome, Myelofibrosis, Myeloid leukemia, Nasopharyngeal carcinoma, Neoplasms, Nephrocalcinosis, Nervous System Disorder, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Nonorganic Psychosis, Obesity, Obsessive-Compulsive Disorder, Osteoarthritis, Osteochondritis Dissecans, Osteopenia, Otitis media, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid carcinoma, Papilloma, Parkinson disease, Periodontitis, Peritoneal Fibrosis, Polycystic Ovary Syndrome, Progressive Supranuclear Palsy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychosis, Quadriplegia, Recurrent multifocal osteomyelitis, Renal Carcinoma, Renal fibrosis, Respiratory system infectious disease, Restless Legs Syndrome, Retinal Diseases, Rett syndrome, Rheumatoid arthritis, Schizophrenia, Sclerosing Cholangitis, Senile Dementia, Sjogren syndrome, Stomach Carcinoma, Stomach Neoplasms, Stroke, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tumoral Calcinosis, Urinary bladder cancer, Uterine neoplasm, Vasculitis, Vulval varices
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3017
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Pyrroline-5-carboxylate reductase 1 |
ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR |
Curated: Cutis laxa, Accessory skin tag, Desbuquois syndrome, Benign pemphigus, Darier disease, Lung cancer, Rothmund-thomson syndrome, autosomal recessive cutis laxa type 2B
Unreviewed: AA amyloidosis, Agenesis Of Corpus Callosum, Alzheimer disease, B-Cell Lymphoma, Benign Prostatic Hyperplasia, Blepharophimosis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cockayne Syndrome, Colitis, Colorectal Cancer, Colorectal neoplasm, Congenital disorder of glycosylation, Congenital Pectus Carinatum, Corpus callosum agenesis, Cryptorchidism, Cutis Laxa, De Barsy Syndrome, Developmental Delay, Developmental dysplasia of the hip, Dwarfism, Dysmorphic Features, Dysplastic corpus callosum, Elbow flexion contracture, Esophageal squamous cell carcinoma, Frontal bossing, Gastroesophageal Reflux Disease, Geroderma Osteodysplastica, Glaucoma, Glaucoma, congenital, Hepatoblastoma, Hepatocellular carcinoma, Hydrocephalus, Kidney Cancer, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lymphatic metastasis, Malignant Neoplasm, Malocclusion, Melanoma, Mental retardation, Microcephaly, Microcornea, Mitochondrial disease, Multiple Congenital Anomalies, Nasopharyngeal carcinoma, Neoplasms, Nonorganic Psychosis, Osteopenia, Osteoporosis, Osteosarcoma, Pancreatitis, Papillary Renal Carcinoma, Posteriorly Rotated Ear, Premature aging, Progeria, Prostate cancer, Prostatic neoplasm, Psychosis, Reactive Systemic Amyloidosis, Renal Carcinoma, Renal cell carcinoma, Scoliosis, Sjogren syndrome, Squamous cell carcinoma, Strabismus, Talipes, Urinary bladder neoplasms
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3019
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Pyrroline-5-carboxylate reductase 2 |
HLD10, P5CR2 |
Curated: Primary microcephaly, Basal cell carcinoma, Hypomyelinating leukodystrophy, Leukodystrophy
Unreviewed: Agenesis Of Corpus Callosum, Arachnodactyly, Breast neoplasm, Carcinogenesis, Cerebral cortical atrophy, Colorectal neoplasm, Demyelinating diseases, Developmental Delay, Dwarfism, Esophagus Neoplasm, Hyperkinesia, Hypoplasia Of Corpus Callosum, Liver carcinoma, Major depressive disorder, Melanoma, Mental retardation, Microcephaly, Microcephaly-Progressive Leukoencephalopathy, Mitochondrial disease, Neuronal Heterotopia, Pachygyria, Psychiatric disorders, Renal aplasia, Renal cell carcinoma, Vesicoureteral Reflux
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