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).

Irizarry et al. BMC Genomics 2012 13:31   doi:10.1186/1471-2164-13-31

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