|
131
|
|
|
Dyskerin pseudouridine synthase 1 |
CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101 |
Alopecia, Anemia, Carcinoma, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Developmental delay, Diabetes mellitus, Dwarfism, Dyskeratosis congenita, Dyskeratosis congenita, x-linked, Esophageal stenosis, Esophageal stricture, Excessive tearing, Hodgkin disease, Horseshoe kidney, Hoyeraal-hreidarsson syndrome, Hypodontia, Hypoplasia of the maxilla, Hypospadias, Immunologic deficiency syndromes, Leukemia, Leukopenia, Leukoplakia, Liver failure, Lymphoma, Malabsorption syndrome, Mental retardation, Microcephaly, Myelodysplasia, Myelodysplastic syndrome, Nail dystrophy, Neoplasms, Optic atrophy, Osteoporosis, Palmoplantar keratoderma, Palmoplantar keratosis, Pancreatic neoplasm, Pancytopenia, Periodontitis, Pterygium, Pulmonary fibrosis, Scoliosis, Strabismus, TaurodontismView all (33 more) |
|
132
|
|
|
Dihydrolipoamide S-acetyltransferase |
DLTA, E2, PBC, PDC-E2, PDCE2 |
Choreoathetosis, Developmental delay, Mental retardation, Microcephaly, Myocardial ischemia, Hypotonia, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Ptosis, Pyruvate dehydrogenase complex deficiency disease, Pyruvate dehydrogenase deficiency |
|
133
|
|
|
Dihydrolipoamide dehydrogenase |
DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3 |
Cardiomyopathy, Developmental delay, Epileptic encephalopathy, Hepatic encephalopathy, Hyperisoleucinemia, Hypertrophic cardiomyopathy, Hypoglycemia, Lactic acidosis, Leigh syndrome, Lissencephaly, Liver failure, Maple syrup urine disease, Microcephaly, Nadh-cytochrome b5 reductase deficiency, Pyruvate dehydrogenase complex deficiency disease, ThrombophiliaView all (1 more) |
|
134
|
|
|
Discs large MAGUK scaffold protein 1 |
DLGH1, SAP-97, SAP97, hdlg |
|
|
135
|
|
|
Discs large MAGUK scaffold protein 2 |
PPP1R58, PSD-93, PSD93, chapsyn-110 |
Bipolar disorder, Cardiovascular diseases, Chronic obstructive pulmonary disease, Common migraine, Melanoma, Mental depression, Myopia, Nephroblastoma, Parkinson disease, Rheumatoid arthritis, Schizophrenia |
|
136
|
|
|
Discs large MAGUK scaffold protein 3 |
MRX, MRX90, NEDLG, PPP1R82, SAP102, XLID90, XLMR |
Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Colorectal cancer, Developmental delay, Dysmorphic features, Facial paralysis, Neurosensory hearing impairment, Mental retardation, Macrocephaly, Meckel diverticulum, Mental depression, Mental retardation, x-linked, Mood disorder, Movement disorders, Non-syndromic intellectual disability, x-linked, Obesity, Schizophrenia, Seizure, Strabismus, Syndactyly of the toesView all (6 more) |
|
137
|
|
|
Discs large MAGUK scaffold protein 4 |
MRD62, PSD95, SAP-90, SAP90 |
|
|
138
|
|
|
Dihydrolipoamide S-succinyltransferase |
DLTS, KGD2, PGL7, PPGL7 |
Adrenal gland pheochromocytoma, Aniridia, Capillary hemangioma of retina, Congestive heart failure, Cranial nerve compression, Episodic paroxysmal anxiety, Extra-adrenal pheochromocytoma, Glomerulonephritis, Glomerulosclerosis, Hearing loss, Hereditary pheochromocytoma-paraganglioma, Hypercalcemia, Hypertensive retinopathy, Leukemia, Panic disorder, Paraganglioma, Paraganglioma of head and neck, Pheochromocytoma, Pulsatile tinnitus, Renal carcinoma, Sinus tachycardia, Vocal cord paralysisView all (7 more) |
|
139
|
|
|
Distal-less homeobox 1 |
- |
|
|
140
|
|
|
Distal-less homeobox 2 |
TES-1, TES1 |
|
