Table 3

Pathologs related to hereditary disorders. Representative disease is shown for each clone. * RTPS6.3 (representative transcript protein set 6.3) cluster representative transcriptional unit (TU) of the FANTOM2 clone set. OMIM status: 1 = gene present in OMIM with a reported disease; 2 = gene present in OMIM with different disease association or without disease; 3 = gene not present in OMIM.
Disease	FANTOM ID	DDBJ accession	Gene name	Disease relationship	OMIM status

HEREDITARY
Diagnosis
	1700026F24	AK006381	Neuronal protein 15.6	Neurogenetic disorders	3
	2300002L19*	AK009012	Chitotriosidase precursor	Gaucher's disease	1
	2700028P07	AK012300	14-3-3 protein tau	Creutzfeldt-Jakob disease	3
	4732420G08*	AK028628	Methionine synthase reductase	Methionine synthase reductase deficiency	1
Pathophysiology
	1010001M04*	AK003132	Nadh-ubiquinone oxidoreductase 20 kda subunit, mitochondrial precursor	Mitochondrial complex I deficiency	1
	1110019I12*	AK003819	Selenoprotein n precursor	Congenital muscular dystrophy	1
	4930414M06	AK005847	Sterol carrier protein 2	Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency	1
	1810064C02	AK007951	Sedlin	Spondyloepiphyseal dysplasia tarda	1
	2310057L06	AK075908	Tubulin-specific chaperone d	Retinitis pigmentosa	2
	2410004F01*	AK010385	Protoheme ix farnesyltransferase, mitochondrial precursor	Charcot-marie-tooth disease	1
	2610205J09	AK011891	Periodic tryptophan Protein 1	Progressive myoclonus epilepsy	1
	2900072D10*	AK013765	Sco2 protein homolog, mitochondrial precursor	Cardioencephalomyopathy and a severe COX deficiency	1
	3110031I02*	AK014104	N-wasp protein	Wiskott-Aldrich syndrome	1
	4832440C16	AK029338	Apical-like protein	Ocular albinism type 1	1
	4930430B17	AK076748	Machado-joseph disease protein 1	Machado-joseph disease	1
	5830404H04	AK017896	Protein c21orf2	Autoimmune polyglandular disease type I	1
	6030476O14	AK031666	Myoferlin	Muscular dystrophy and cardiomyopathy	1
	6430516P20	AK032293	Ceroid-lipofuscinosis neuronal protein 5	Late infantile neuronal ceroid lipofuscinosis	1
	6430560A18	AK078275	Caltractin, isoform 2	Barth syndrome and chondrodysplasia punctata	2
	8030487I16	AK033295	Gdp-fucose transporter 1	Leukocyte adhesion deficiency II	1
	9330166I04*	AK034236	Sialidase	Sialidosis	1
	6720416P20*	AK032725	Zinc finger protein 25	MEN2a MEN2b	1
	9630046L06	AK036225	Glycogen debranching enzyme	Glycogen storage disease type III	1
	9930121L06*	AK037126	Artemis protein	Athabascan SCID	3
	A130054J05*	AK037846	Nuclear localization signal protein absent in velo-cardio-facial patients	Velo-cardio-facial syndrome	1
	A230074J06*	AK038912	Nyctalopin	X-linked congenital stationary night blindness	1
	A230090N11*	AK039054	Cyld protein	Cylindromatosis	1
	A630004L17	AK041354	Transmembrane protein vezatin	Deafness	3
	A730020L24	AK042745	Alkyl-dihydroxyacetonephosphate synthase	Zellweger syndrome	1
	A830020B12	AK043682	Peroxisome assembly protein 10	Peroxisome-biogenesis disorders	1
	A930007F16	AK044320	Inositol polyphosphate 5-phosphatase ocrl-1	Lowe syndrome	1
	A930014F04	AK044460	Mitochondrial intermediate peptidase, mitochondrial precursor	Friedreich's ataxia	1
	B230307C21*	AK045712	Epilepsy holoprosencephaly candidate-1 protein	Progressive myoclonus epilepsy	1
	B230311E17	AK045797	Monocarboxylate transporter 5	Mitochondrial myopathies	2
	B430307M20*	AK046679	Ataxin 7	Spinocerebellar ataxia type 7	1
	C130020P08	AK047906	Lowe oculocerebrorenal syndrome protein	Oculocerebrorenal syndrome of Lowe	1
	C330001M22*	AK049106	Ubash3a protein	Autosomal recessive deafness	2
	C330016K18*	AK049248	Sodium bicarbonate cotransporter isoform 1	Proximal renal tubular acidosis associated with ocular abnormalities	1
	C430015N23*	AK049478	Y+l amino acid transporter 1	Lysinuric protein intolerance	1
	D030003E11	AK050684	Beta-1,4-galactosyltransferase 7	Progeroid type Ehlers-Danlos syndrome	1
	E130016P05	AK084312	T-box transcription factor tbx22	Cleft palate	1
	D630003K02*	AK085272	Cytochrome b5 reductase b5r.2	Methemoglobinemia	1
	D630025L11*	AK052697	Chorein	Chorea-acanthocytosis	1

Silva et al. BMC Genomics 2004 5:28 doi:10.1186/1471-2164-5-28