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 |