Sprengel Deformity Gene Set
Genes
29 genes associated with the disease Sprengel Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
EFNB1
|
ephrin-B1
|
|
EMD
|
emerin
|
|
FHL1
|
four and a half LIM domains 1
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
LMNA
|
lamin A/C
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
PAX3
|
paired box 3
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RPL11
|
ribosomal protein L11
|
|
SEPT9
|
septin 9
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TBX2
|
T-box 2
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
THOC6
|
THO complex 6
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM43
|
transmembrane protein 43
|
