|
651
|
|
|
Phosphofurin acidic cluster sorting protein 1 |
MRD17, SHMS |
Apraxia, Autism, Bicuspid aortic valve, Bipolar disorder, Camptodactyly of fingers, Cerebellar atrophy, Cerebellar hypoplasia, Congenital exomphalos, Congenital ocular coloboma, Congenital pectus excavatum, Cryptorchidism, Depressed bipolar disorder, Developmental delay, Dysarthria, Dysmorphic features, Epilepsy, Gastroesophageal reflux disease, Horseshoe kidney, Hydronephrosis, Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome, Intestinal volvulus, Macrostomia, Macrotia, Manic disorder, Mental retardation, Microcephaly, Mitral valve prolapse, Multiple congenital anomalies, Myopia, Nystagmus, Obesity, Oral aversion, Partial absence of cerebellar vermis, Patent ductus arteriosus, Patent foramen ovale, Ptosis, Scoliosis, Strabismus, Synophrys, Ventricular septal defectView all (25 more) |
|
652
|
|
|
CAMP-dependent protein kinase inhibitor beta |
PRKACN2 |
|
|
653
|
|
|
RNA polymerase III subunit B |
C128, CMT1I, HLD8, INMAP, RPC2 |
Central nervous system neoplasms, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Coronary heart disease, Cryptorchidism, Developmental delay, Dwarfism, Dysarthria, Dysphagia, Endosteal sclerosis-cerebellar hypoplasia syndrome, Glioblastoma, Glioma, Gynecomastia, Horizontal nystagmus, Hypodontia, Hypogonadism, Hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy with or without oligodontia and/or hypogonadotropic hypogonadism, Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome, Hypoplasia of corpus callosum, Mental retardation, Leukodystrophy, Hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism, Myopia, Oligodontia, Penis agenesis, Physiologic amenorrheaView all (13 more) |
|
654
|
|
|
Protein kinase cAMP-dependent type I regulatory subunit alpha |
ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, Prkar1alpha, TSE1 |
Acrodysostosis, Acrodysostosis with multiple hormone resistance, Acrodysostosis with or without hormone resistance, Adrenocortical carcinoma, Adrenal gland pheochromocytoma, Adrenal hyperplasia, Adrenocortical tumor, Alopecia, Alopecia, male pattern, Amelogenesis imperfecta, Androgenetic alopecia, Anemia, Anorexia, Anxiety disorder, Apparent mineralocorticoid excess, Atrial myxoma, Atrophy, Autism, Blue nevus, Brachycephaly, Brachydactyly, Carney complex, Colonic neoplasms, Congenital adrenal hyperplasia, Congenital bronchogenic cyst, Congenital craniofacial dysostosis, Dislocated radial head, Congenital epicanthus, Congenital hypoplasia of radius, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Cushing`s syndrome, Developmental delay, Diabetes mellitus, Diffuse alveolar hemorrhage, Disseminated intravascular coagulation, Dwarfism, Endocrine gland neoplasms, Endocrine gland cancer, Endometrial neoplasms, Enlarged polycystic ovaries, Fibrinogen deficiency, Fibroadenoma of breast, Gangrene, Hepatocellular adenoma, Histiocytoma, Hydrocephalus, Hydrops fetalis, Hypercortisolism, Hyperglycemia, Hyperphosphatemia, Hypertension, Hypertension associated with pheochromocytoma, Hypodontia, Hypofibrinogenemia, Hypogonadism, Hypoplasia of the maxilla, Hypospadias, Intracardiac myxoma, Isolated somatotropin deficiency, Leukopenia, Malocclusion, Melanocytic nevus, Mental depression, Mental retardation, Microcornea, Micromelia, Mood swings, Multiple lentigines, Myopathy, Myxoid subcutaneous tumors, Myxoma, Myxoma of heart, Myxoma of the endocardium, Hypotonia, Nervous system diseases, Neurilemmoma, Neutropenia, Nevus, Obesity, Optic atrophy, Osteochondroma, Osteopenia, Osteoporosis, Pancreatic neoplasm, Pancytopenia, Parathyroid adenoma, Peripheral dysostosis, Peripheral schwannoma, Pheochromocytoma, Pigmented nodular adrenocortical disease, Pituitary adenoma, Prolactinoma, Promyelocytic leukemia, Pseudohypoparathyroidism, Pseudopelade, Psychosis, Pulmonic valve myxoma, Scoliosis, Sertoli cell neoplasm, Somatotropin deficiency, Spade-like hand, Specific learning disorder, Stomach neoplasms, Stomatitis, Strabismus, Thrombosis, Thyroid neoplasm, Thyroid cancer, Thyroid carcinoma, Thyroid gland follicular adenoma, Tricuspid valve insufficiency, Tumors of adrenal cortex, Acoustic neuromaView all (100 more) |
|
655
|
|
|
Protein kinase cAMP-dependent type I regulatory subunit beta |
MASNS, PRKAR1 |
|
|
656
|
|
|
Protein kinase cAMP-dependent type II regulatory subunit beta |
PRKAR2, RII-BETA |
|
|
657
|
|
|
Protein kinase C alpha |
AAG6, PKC-alpha, PKCA, PKCI+/-, PKCalpha, PRKACA |
Asthma, Colorectal cancer, Diabetes insipidus, Glioblastoma, Gout, Gouty arthritis, Intestinal neoplasms, Intestinal cancer, Nephrogenic diabetes insipidus, Non-alcoholic fatty liver disease, Nonorganic psychosis, Psychosis, Schizoaffective disorder, Schizophrenia |
|
658
|
|
|
Protein kinase C beta |
PKC-beta, PKCB, PKCI(2), PKCbeta, PRKCB1, PRKCB2 |
Ankylosing spondylitis, Autism, Cholangitis, Chronic obstructive pulmonary disease, Colorectal cancer, Colorectal neoplasms, Crohn disease, Diabetes mellitus, Gastric cancer, Glioblastoma, Hearing loss, Hyperglycemia, Inflammatory bowel disease, Meniere disease, Mental depression, Biliary cirrhosis, Psoriasis, Stomach neoplasms, T-cell lymphoma/leukemia, Ulcerative colitisView all (5 more) |
|
659
|
|
|
Protein kinase C delta |
ALPS3, CVID9, MAY1, PKCD, nPKC-delta |
Anemia, Aphthous ulcer, Arthritis, Autoimmune hemolytic anemia, Autoimmune lymphoproliferative disorder, B-cell lymphoma, Brachycephaly, Bronchiectasis, Bronchitis, Burkitt`s lymphoma, Carcinoma, Clonic seizures, Colitis, Common variable immunodeficiency, Coombs positive hemolytic anemia, Eosinophilia, Fibroadenoma of breast, Gastritis, Gastrointestinal stromal tumor, Glomerulonephritis, Hodgkin disease, Hydrops fetalis, Hypersplenism, Hypertension, Hypotonic seizures, Immune thrombocytopenic purpura, Immunologic deficiency syndromes, Imperforate anus, Intestinal neoplasms, Intestinal cancer, Jacksonian seizure, Liver carcinoma, Lupus erythematosus, Lymphocytosis, Lymphoma, Lymphopenia, Membranous glomerulonephritis, Nephrotic syndrome, Non-alcoholic fatty liver disease, Otitis media, Panniculitis, Parkinson disease, Parkinsonian disease, Premature menopause, Pulmonary fibrosis, Ramsay hunt paralysis syndrome, Renal insufficiency, Seizure, Systemic lupus erythematosus, T-cell lymphoma, Thyroid carcinoma, Thyroid gland follicular adenoma, Thyroiditis, Tongue neoplasms, Urticaria, Uveitis, VasculitisView all (42 more) |
|
660
|
|
|
Protein kinase C epsilon |
PKCE, nPKC-epsilon |
Asthma, Cardiomyopathy, Cardiovascular diseases, Colorectal cancer, Colorectal neoplasms, Coronary artery disease, Coronary stenosis, Diabetic nephropathy, Glomerulosclerosis, Liver neoplasms, Liver cancer, Myocardial diseases, Myocardial infarction, Myocardial ischemia, Nervous system diseases, Non-alcoholic fatty liver diseaseView all (1 more) |
