Table 9 List of OMIM Diseases

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