aplasia/hypoplasia of the macula Gene Set
Genes
13 genes associated with the aplasia/hypoplasia of the macula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
HMX1
|
H6 family homeobox 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
OCA2
|
oculocutaneous albinism II
|
|
PAX6
|
paired box 6
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
TYR
|
tyrosinase
|
