omimdefinitions

| [Birth weight QTL 1] (2)
| MODY, type II, 125851 (3)
| * 138079 GLUCOKINASE| GCK
| Diabetes mellitus, gestational, 125851 (3)
| Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)
| Diabetes mellitus, permanent neonatal, 606176 (3)
| Diaphanospondylodysostosis, 608022 (3)
| ?Retinitis pigmentosa 9, 180104 (3)
| Ciliary dyskinesia, primary, 6, 610852 (3)
| Deafness, autosomal recessive 44 (2)
| [Blood group, Colton], 110450 (3)
| * 107776 AQUAPORIN 1| AQP1
| [Glutaric aciduria III], 231690 (3)
| Telangiectasia, hereditary hemorrhagic, type 4 (2)
| Trichothiodystrophy, nonphotosensitive 1, 234050 (3)
| * 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE
| Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
| {Wilms tumor susceptibility-5}, 601583 (3)
| Hyperbiliverdinemia, 614156 (3)
| Cerebral cavernous malformations-2, 603284 (3)
| Greig cephalopolysyndactyly syndrome, 175700 (3)
| Pallister-Hall syndrome, 146510 (3)
| Polydactyly, preaxial, type IV, 174700 (3)
| Polydactyly, postaxial, types A1 and B, 174200 (3)
| {Hypothalamic hamartomas, somatic}, 241800 (3)
| [Ezetimibe, nonresponse to] (3)
| Glycogen storage disease X, 261670 (3)
| * 103072 ADENYLATE CYCLASE 1| ADCY1
| * 131550 EPIDERMAL GROWTH FACTOR RECEPTOR| EGFR
| Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
| {Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
| {Leukemia, acute lymphoblastic, susceptibility to, 2} (2)
| Cardiomyopathy, familial hypertrophic, 21 (2)
| * 603023 IKAROS FAMILY ZINC FINGER 1| IKZF1
| Nystagmus 3, congenital, autosomal dominant (2)
| Phosphoserine phosphatase deficiency, 614023 (3)
| Silver-Russell syndrome (4)
| Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
| Argininosuccinic aciduria, 207900 (3)
| Myelodysplasia and leukemia syndrome with monosomy 7 (4)
| Shwachman-Bodian-Diamond syndrome, 260400 (3)
| Pontocerebellar hypoplasia, type 3 (2)
| {Prostate cancer, susceptibility to, 4}, 176807 (2)
| Aneurysm, intracranial berry, 1 (2)
| Mental retardation, autosomal dominant 26, 615834 (3)
| * 173510 CD36 ANTIGEN| CD36
| Platelet glycoprotein IV deficiency, 608404 (3)
| {Malaria, cerebral, susceptibility to}, 611162 (3)
| {Malaria, cerebral, reduced risk of}, 611162 (3)
| {Coronary heart disease, susceptibility to, 7}, 610938 (3)
| Supravalvar aortic stenosis, 185500 (3)
| Cutis laxa, AD, 123700 (3)
| {Esophagitis, eosinophilic, 1} (2)
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
| Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
| Cerebral cavernous malformations-1, 116860 (3)
| * 604214 KREV INTERACTION TRAPPED 1| KRIT1
| Cavernous malformations of CNS and retina, 116860 (3)
| ?EEC syndrome-1 (2)
| Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
| Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb (4)
| Chromosome 7q11.23 duplication syndrome (4)
| * 601767 HUNTINGTIN-INTERACTING PROTEIN 1| HIP1
| Neuropathy, distal hereditary motor, type IIB, 608634 (3)
| Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)
| Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
| * 600079 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 12| PTPN12
| Williams-Beuren syndrome (4)
| * 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A| PPP1R3A
| {Microvascular complications of diabetes 2}, 612623 (3)
| Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
| Dystonia-11, myoclonic, 159900 (3)
| {Stature QTL 11} (2)
| Long QT syndrome-11, 611820 (3)
| {Malignant hyperthermia susceptibility 3} (2)
| Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
| Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
| Asparagine synthetase deficiency, 615574 (3)
| Cholestasis, progressive familial intrahepatic 3, 602347 (3)
| Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
| Gallbladder disease 1, 600803 (3)
| {Colchicine resistance}, 120080 (3)
| {Inflammatory bowel disease 13}, 612244 (3)
| Deafness, autosomal recessive 39, 608265 (3)
| Mucopolysaccharidosis VII, 253220 (3)
| {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
| CHARGE syndrome, 214800 (3)
| Cardiomyopathy, dilated, 2B, 614672 (3)
| Split hand/foot malformation 1 (4)
| * 114131 CALCITONIN RECEPTOR| CALCR
| {Coronary artery disease, susceptibility to} (3)
| {Coronary artery spasm 2, susceptibility to (3)
| {Organophosphate poisoning, sensitivity to} (3)
| {Microvascular complications of diabetes 5}, 612633 (3)
| * 602447 PARAOXONASE 2| PON2
| Citrullinemia, adult-onset type II, 603471 (3)
| Citrullinemia, type II, neonatal-onset, 605814 (3)
| Plasminogen activator inhibitor-1 deficiency, 613329 (3)
| * 173360 SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR
| [Blood group, Yt system], 112100 (3)

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