omimdefinitions

| Mental retardation, autosomal recessive 14, 614020 (3)
| Pseudoachondroplasia, 177170 (3)
| Epiphyseal dysplasia, multiple 1, 132400 (3)
| * 601604 INTERLEUKIN 12 RECEPTOR, BETA-1| IL12RB1
| SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
| {Celiac disease, susceptibility to, 4}, 609753 (3)
| Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
| Migraine, familial hemiplegic, 1, 141500 (3)
| Episodic ataxia, type 2, 108500 (3)
| Spinocerebellar ataxia 6, 183086 (3)
| * 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT| CACNA1A
| * 607536 CREB-REGULATED TRANSCRIPTION COACTIVATOR 1| CRTC1
| Deafness, autosomal recessive 81 (2)
| * 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11| GNA11
| Hypocalcemia, autosomal dominant 2, 615361 (3)
| {Inflammatory bowel disease 6} (2)
| {Migraine with or without aura, susceptibility to, 5} (2)
| * 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7| NDUFS7
| Pigmented nodular adrenocortical disease, primary, 4 (4)
| {Psoriasis susceptibility 6} (3)
| Cold-induced sweating syndrome, 272430 (3)
| * 602880 GROWTH/DIFFERENTIATION FACTOR 1| GDF1
| Tetralogy of Fallot, 187500 (3)
| Transposition of great arteries, dextro-looped 3, 613854 (3)
| Right atrial isomerism, 208530 (3)
| * 603200 REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING| RFXANK
| Exostoses, multiple, type 3 (2)
| Mannosidosis, alpha-, types I and II, 248500 (3)
| Prolidase deficiency, 170100 (3)
| Seizures, benign familial infantile, 1 (2)
| {Prostate cancer aggressiveness QTL}, 176807 (2)
| Specific language impairment QTL, 2 (2)
| Neurodegeneration with brain iron accumulation 4, 614298 (3)
| ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
| {Hirschsprung disease, susceptibility to, 7} (2)
| Carpenter syndrome 2, 614976 (3)
| Abdominal obesity-metabolic syndrome 3, 615812 (3)
| Dystonia-12, 128235 (3)
| Alternating hemiplegia of childhood 2, 614820 (3)
| * 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1| SDHAF1
| Aortic aneurysm, familial abdominal 1 (2)
| Glomerulosclerosis, focal segmental, 1, 603278 (3)
| Aneurysm, intracranial berry, 2 (2)
| * 113530 BRANCHED-CHAIN AMINOTRANSFERASE 2| BCAT2
| * 109560 B-CELL LEUKEMIA/LYMPHOMA 3| BCL3
| Hermansky-Pudlak syndrome 8, 614077 (3)
| Cataract 35, congenital nuclear (2)
| Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
| Episodic ataxia, type 7 (2)
| * 610622 FUZZY, DROSOPHILA, HOMOLOG OF| FUZ
| Hemochromatosis, type 2B, 613313 (3)
| Orofacial cleft-3 (2)
| [Uric acid concentration, serum, QTL5] (2)
| Nephrotic syndrome, type 9, 615573 (3)
| * 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA| CEBPA
| * 124089 CYTOCHROME c OXIDASE, SUBUNIT VIb, POLYPEPTIDE 1| COX6B1
| Craniosynostosis 4, 600775 (3)
| Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
| Nephrotic syndrome, type 1, 256300 (3)
| Acne inversa, familial, 2, 613736 (3)
| {Malignant hyperthermia susceptibility 1}, 145600 (3)
| Central core disease, 117000 (3)
| Minicore myopathy with external ophthalmoplegia, 255320 (3)
| * 180901 RYANODINE RECEPTOR 1| RYR1
| King-Denborough syndrome, 145600 (3)
| Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
| Brugada syndrome 5, 612838 (3)
| * 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT| SCN1B
| Atrial fibrillation, familial, 13, 615377 (3)
| * 604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
| Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
| Camurati-Engelmann disease, 131300 (3)
| * 190180 TRANSFORMING GROWTH FACTOR, BETA-1| TGFB1
| * 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN| TYROBP
| * 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2| AKT2
| Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)
| * 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE| BCKDHA
| Cutis laxa, autosomal recessive, type IC, 613177 (3)
| * 605725 PERIAXIN| PRX
| Charcot-Marie-Tooth disease, type 4F, 614895 (3)
| Chromosome 19q13.11 deletion syndrome (4)
| * 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN| RGS9BP
| Deafness, autosomal recessive 76, 615540 (3)
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
| * 607402 INTERFERON, LAMBDA-3| IFNL3
| Hyperlipoproteinemia, type III (3)
| {Myocardial infarction susceptibility} (3)
| Sea-blue histiocyte disease, 269600 (3)
| Alzheimer disease-2, 104310 (3)
| {?Macular degeneration, age-related}, 603075 (3)
| Lipoprotein glomerulopathy, 611771 (3)
| Hyperlipoproteinemia, type Ib, 207750 (3)
| Meckel syndrome 10, 614175 (3)
| {Alzheimer disease 19, late onset, susceptibility to}, 615711 (3)
| Agammaglobulinemia 3, 613501 (3)
| Coumarin resistance, 122700 (3)
| {Nicotine addiction, protection from}, 188890 (3)
| {Lung cancer, resistance to}, 211980 (3)
| Efavirenz, poor metabolism of, 614546 (3)
| * 123930 CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6| CYP2B6

« Til de 100 forrige Til de 100 næste » 1 ... 55 56 57 58 59 60 61 ... 205

Handlinger tilknyttet webside

Send this