Table 9.
List of OMIM Diseases
| Disease Name | Disease Name |
|---|---|
| 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | Glycogen storage disease, type 0 |
| 2-methylbutyrylglycinuria | Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy |
| 2-methylbutyrylglycinuria | Griscelli syndrome, type 2 |
| 3-methylglutaconic aciduria, type I | Hawkinsinuria |
| Acyl-CoA dehydrogenase, short-chain, deficiency of | Hemolytic anemia due to bisphosphoglycerate mutase deficiency |
| Adrenal cortical carcinoma | Homocysteine plasma level |
| Aldolase A deficiency | HPRT-related gout |
| Alzheimer disease-4 | Hyper-IgD syndrome |
| Amyotrophic lateral sclerosis 10 | Hyperleucinemia-isoleucinemia or hypervalinemia |
| Arthrogryposis multiplex congenita, distal, type 1 | Hypervalinemia or hyperleucine-isoleucinemia |
| Bannayan-Riley-Ruvalcaba syndrome | Hypogonadotropic hypogonadism |
| Bartter syndrome, type 2 | Hypokalemic periodic paralysis |
| Beta-ureidopropionase deficiency | Hypomagnesemia, renal, with ocular involvement |
| Birt-Hogg-Dube syndrome, | Hypotrichosis, localized, autosomal recessive |
| Bjornstad syndrome, | Immunodeficiency with hyper IgM, type 4 |
| Breast cancer, sporadic | Leigh syndrome |
| Brugada syndrome 2 | Leukoencephalopathy with vanishing white matter |
| Brunner syndrome | Lipoid adrenal hyperplasia |
| C2 deficiency | Lung cancer |
| C9 deficiency | Mast syndrome, |
| Cardiomyopathy, dilated, 1M, | Megakaryoblastic leukemia, acute |
| Cardiomyopathy, dilated, 1N | Mental retardation, X-linked syndromic |
| Cardiomyopathy, dilated, 1Z | Methemoglobinemia due to cytochrome b5 deficiency |
| Cardiomyopathy, familial hypertrophic | Methylmalonyl-CoA epimerase deficiency |
| Carnitine acetyltransferase deficiency | Microphthalmia, syndromic 6 |
| Carnitine deficiency, systemic primary | Mitochondrial complex I deficiency |
| Cataract, posterior polar 2 | Myopathy due to phosphoglycerate mutase deficiency |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | Myopathy with exercise intolerance, Swedish type |
| Ceroid lipofuscinosis, neuronal 8 | Neuroblastoma |
| Charcot-Marie-Tooth disease, axonal, type 2F | Oral-facial-digital syndrome 1 |
| Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | Ovarian carcinoma |
| Colon cancer, advanced | Pancreatic cancer |
| Combined oxidative phosphorylation deficiency 2 | Phenylketonuria - dihydropteridine reductase deficiency |
| Combined oxidative phosphorylation deficiency 5 | Phosphoglycerate kinase 1 deficiency |
| Congenital disorder of glycosylation, type IIc | Porphyria cutanea tarda |
| Costello syndrome | Retinitis pigmentosa-46 |
| Cutis laxa, autosomal dominant | Retinitis pigmentosa-46 |
| D-2-hydroxyglutaric aciduria | Ribose 5-phosphate isomerase deficiency |
| Deafness, autosomal recessive 63 | Spastic paraplegia 31 |
| Desmosterolosis | Spondylocostal dysostosis, autosomal recessive 3 |
| Diamond-Blackfan anemia 6 | STAR syndrome |
| Epilepsy, neonatal myoclonic, with suppression-burst pattern | Temperature-sensitive apoptosis, cellular |
| Esophageal carcinoma, somatic | Transcobalamin II deficiency |
| Galactosemia | Tyrosinemia, type I |
| Generalized epilepsy with febrile seizures | Ventricular tachycardia, catecholaminergic polymorphic, 2 |
| Glutamine deficiency, congenital | |
A set of 90 human genetic disorders associated with orthologous feline cDNA sequences are listed in the table. The table contains an alphabetical list of the human diseases in two columns. (Additional information including cDNA identifier, ensembl human gene identifier, OMIM identifier and disease name can be found in Additional file 3, Table S3).