infantile muscular hypotonia Gene Set
Genes
12 genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Symbol |
Name |
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
COL1A1
|
collagen, type I, alpha 1
|
COL5A1
|
collagen, type V, alpha 1
|
COL5A2
|
collagen, type V, alpha 2
|
FGFR3
|
fibroblast growth factor receptor 3
|
GAMT
|
guanidinoacetate N-methyltransferase
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
ITGA7
|
integrin, alpha 7
|
MECP2
|
methyl CpG binding protein 2
|
PEX13
|
peroxisomal biogenesis factor 13
|
SUOX
|
sulfite oxidase
|
TRPS1
|
trichorhinophalangeal syndrome I
|