Table 4

Genetic disorders linked to human TF genes conserved among nematodes, fly, mouse, and human.

C. elegans gene

Human ortholog

Human disorder

vab-3

Pax6

Aniridia type II, Peters anomaly with cataract, foveal hypoplasia

Y38H8A.5

FEZF1

Beckwith-Wiedemann syndrome

ceh-33

SIX1

Branchiootic syndrome 3

mab-9

TBX20

Cardiomyopathy, atrial septal defect 1

tag-192

CHD7

CHARGE syndrome

ceh-24

TITF1

Congenital hypothyroidism, neonatal respiratory insufficiency

dve-1

SATB2

Cleft palate isolated

ceh-14

LHX3

Combined pituitary hormone deficiency 3

unc-86

Pou4f3

DFNA15 syndrome

elt-1

GATA1

Dyserythropoietic anemia with thrombocytopenia

K02H8.1

MBNL2

Dystrophia myotonica 1

fax-1

Nr2e3

Enhanced s-cone syndrome

ceh-17

PHOX2A

Congenital fibrosis of the extraocular muscles 2

ceh-32

SIX3

Holoprosencephaly 2

sbp-1

Srebf1

Hypercholesterolemia, familial

lin-28

LIN28B

Hypomyelination and cataract

alr-1

ARX

Lissencephaly, X-linked, with ambiguous genitalia

hmg-5

Tfam

Kearns-Sayre syndrome

cnd-1

NEUROD1

Maturity-onset diabetes of the young

lim-6

LMX1B

Nail patella syndrome NPS1

grh-1

GRHL2

Neurosensory deafness 28

sma-4

Smad4

Pancreatic cancer, Hemorrhagic Telangiectasia Syndrome (HTT)

nhr-6

NR4A2

PARK14

ceh-6

POU3F3

Perilymphatic gusher-deafness syndrome

zag-1

ZEB1

Posterior polymorphous corneal dystrophy 3

eor-1

MYNN

Promyelocytic leukemia

R07E5.3

Smarcb1

Rhabdoid tumor

cbp-1

CREBBP

Rubinstein-taybi syndrome, acute myeloid leukemia

ceh-43

DLX5

Split-hand/foot malformation

ing-3

ING3

Squamous cell carcinoma

ast-1

FLI1

Thrombocytopenia, Paris-Trousseau type

nhr-64

HNF4A

Maturity-onset diabetes of the young

tbx-2

Tbx2

Ulnar mammary syndrome

K02D7.2

SNAI2

Waardenburg syndrome, piebaldism

F53F8.1

KLF3

Wilms tumor

Haerty et al. BMC Genomics 2008 9:399   doi:10.1186/1471-2164-9-399