Table 9

List of OMIM Diseases

Disease Name

Disease Name

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Glycogen storage disease, type 0


Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy


Griscelli syndrome, type 2

3-methylglutaconic aciduria, type I


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


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


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


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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