|
541
|
|
|
Phenylethanolamine N-methyltransferase |
PENT, PNMTase |
|
|
542
|
|
|
Podocalyxin like |
Gp200, PC, PCLP, PCLP-1, PDX, PODXL1, gp135 |
Abnormal male sexual function, Akinesia, Anarthria speech disorder, Anxiety disorder, Brain atrophy, Carotid artery disease, Carotid atherosclerosis, Cerebral atrophy, Dementia of frontal lobe, Dysautonomia, Dyskinetic syndrome, Female sexual dysfunction, Gastroparesis, Hallucinations, Male sexual dysfunction, Mental depression, Mental retardation, Moyamoya disease, Nephrosis, congenital, Nephrotic syndrome, Panic disorder, Parkinson disease, Parkinsonian disease, Prostatic neoplasms, Prostate cancer, Restless legs syndrome, Scoliosis, Social communication disorderView all (13 more) |
|
543
|
|
|
DNA polymerase alpha 1, catalytic subunit |
NSX, PDR, POLA, VEODS, p180 |
Amyloidosis, Atrial septal defect, Autism, Autoinflammatory disease, Colitis, Congenital atresia of pulmonary valve, Developmental delay, Dwarfism, Hyperkeratosis, Hypohidrosis, Mental retardation, Mental retardation, x-linked, Microcephaly, Partington syndrome, Pigmentary disorder, reticulate, with systemic manifestations, Reticulate pigmentary disorder, x-linked, Scoliosis, Spina bifida occulta, Ventricular septal defectView all (4 more) |
|
544
|
|
|
DNA polymerase beta |
- |
|
|
545
|
|
|
DNA polymerase delta 1, catalytic subunit |
CDC2, CRCS10, IMD120, MDPL, POLD |
Adenocarcinoma of colon, Adenomatous polyposis, Brain neoplasms, Breast carcinoma, Hereditary cancer syndrome, Carcinoma, Colorectal cancer, Colorectal neoplasms, Cryptorchidism, Deafness, Diabetes mellitus, Endometrial neoplasms, Endometrial carcinoma, Fatty liver, Hearing loss, Hypogonadism, Hypogonadotropic hypogonadism, Jaw abnormalities, Lipodystrophy, Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome, Micrognathism, Microstomia, Multiple congenital anomalies, Osteoporosis, Polyp of large intestine, Proptosis, Scleroderma, ScoliosisView all (13 more) |
|
546
|
|
|
DNA polymerase epsilon, catalytic subunit |
CRCS12, FILS, IMAGEI, POLE1 |
Adenocarcinoma of colon, Adenomatous polyposis, Adrenal hypoplasia, x-linked, Benign neoplasm of stomach, Brain neoplasms, Mammary neoplasms, Breast carcinoma, Hereditary cancer syndrome, Carcinoma, Clinodactyly, Colorectal cancer, Colorectal neoplasms, Cryptorchidism, Dwarfism, Eczema, Endometrial cancer, Endometrial carcinoma, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Frontal bossing, Gastric cancer, Glioblastoma, Hydronephrosis, Hypogonadism, Hypospadias, Image syndrome, Immunologic deficiency syndromes, Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, Isolated somatotropin deficiency, Macrocephaly, Malignant uterine corpus neoplasm, Microcephaly, Micrognathism, Micromelia, Microtia, Pancreatic adenocarcinoma, Polyp of large intestine, Posteriorly rotated ear, Pyle metaphyseal dysplasia, Scoliosis, Skin cancer, Skin neoplasms, Somatotropin deficiency, Stomach neoplasms, Stomach carcinomaView all (29 more) |
|
547
|
|
|
DNA polymerase gamma, catalytic subunit |
MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE |
Alpers syndrome, Alpers-huttenlocher syndrome, Amyotrophy, Anemia, Anxiety disorder, Spinocerebellar ataxia, Ataxia neuropathy spectrum disorder, Atrial fibrillation, Attention deficit hyperactivity disorder, Autism, Balo`s concentric sclerosis, Bipolar disorder, Brain atrophy, Camptocormia, Cardiomyopathy, Cataract, Central visual impairment, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Cirrhosis, Clonic seizures, Small intestinal dysmotility, Dementia, Demyelinating neuropathy, Developmental delay, Developmental regression, Diabetes mellitus, Distal amyotrophy, Dysarthria, Dyschromatopsia, Dysphagia, Eczema, Epilepsia partialis continua, Epilepsy, External ophthalmoplegia, Facial paralysis, Fanconi anemia, Fatty liver, Gastroesophageal reflux disease, Gastroparesis, Hashimoto disease, Hearing loss, Hyperthyroidism, Hypocupremia, Hypogonadism, Hypogonadotropic hypogonadism, Hypothyroidism, Hypotonic seizures, Impaired cognition, Intestinal perforation, Intestinal pseudoobstruction, Isolated somatotropin deficiency, Jacksonian seizure, Ketosis, Left ventricular hypertrophy, Leigh syndrome, Leukoencephalopathy, Limb-girdle muscle atrophy, Liver failure, Liver fibrosis, Major affective disorder, Malabsorption syndrome, Malnutrition, Mental depression, Mental retardation, Microcephaly, Micronodular cirrhosis, Migraine, Mitochondrial ataxia syndrome, Mitochondrial diseases, Mitochondrial dna depletion syndrome, Mitochondrial electron transport chain deficiencies, Mitochondrial myopathy, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial respiratory chain deficiencies, Mitral valve prolapse, Mood disorder, Mood swings, Myopathy, Nocturia, Nystagmus, Obesity, Optic atrophy, Optic neuritis, Osteoporosis, Oxidative phosphorylation deficiency, Parkinson disease, Parkinsonian disease, Peripheral axonal neuropathy, Physiologic amenorrhea, Polyneuropathy, Premature menopause, Progressive external ophthalmoplegia, Progressive external ophthalmoplegia with mitochondrial dna deletions, Progressive myoclonic epilepsy, Ptosis, Ramsay hunt paralysis syndrome, Schilder disease, Secondary physiologic amenorrhea, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome, Spinocerebellar ataxia with epilepsy, Status epilepticus, Testicular atrophy, Upgaze palsy, Ventricular arrhythmiaView all (94 more) |
|
548
|
|
|
DNA polymerase eta |
RAD30, RAD30A, XP-V, XPV |
|
|
549
|
|
|
RNA polymerase II subunit A |
NEDHIB, POLR2, POLRA, RPB1, RPBh1, RPO2, RPOL2, RpIILS, hRPB220, hsRPB1 |
|
|
550
|
|
|
RNA polymerase II, I and III subunit F |
HRBP14.4, POLRF, RPABC14.4, RPABC2, RPB14.4, RPB6, RPC15 |
Breast cancer, Demyelinating neuropathy, Demyelinating sensory neuropathy, Hearing loss, Hirschsprung disease, Hypoplasia of the olfactory bulb, Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease, Waardenburg syndrome |
