Endemic Cretinism Gene Set
Genes
26 genes associated with the disease Endemic Cretinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
APOE
|
apolipoprotein E
|
|
ARPC5
|
actin related protein 2/3 complex, subunit 5, 16kDa
|
|
ATP5PD
|
ATP synthase peripheral stalk subunit d
|
|
BGLAP
|
bone gamma-carboxyglutamate (gla) protein
|
|
DIO2
|
deiodinase, iodothyronine, type II
|
|
DUOX2
|
dual oxidase 2
|
|
EGR1
|
early growth response 1
|
|
FOXE1
|
forkhead box E1
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGSF1
|
immunoglobulin superfamily, member 1
|
|
INHBB
|
inhibin, beta B
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEFM
|
neurofilament, medium polypeptide
|
|
NGFR
|
nerve growth factor receptor
|
|
PAX8
|
paired box 8
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
RUNX2
|
runt-related transcription factor 2
|
|
TG
|
thyroglobulin
|
|
TPO
|
thyroid peroxidase
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TSHR
|
thyroid stimulating hormone receptor
|
