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.

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