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. 2008 Aug 27;9:399. doi: 10.1186/1471-2164-9-399

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