Aplasia/Hypoplasia Of The Iris Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Absence or underdevelopment of the iris. (Human Phenotype Ontology, HP_0008053)
External Link https://www.disgenet.org/browser/0/1/0/C4024748
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Genes

52 genes associated with the disease Aplasia/Hypoplasia Of The Iris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BDNF brain-derived neurotrophic factor
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP55 centrosomal protein 55kDa
CLIP2 CAP-GLY domain containing linker protein 2
CSPP1 centrosome and spindle pole associated protein 1
ELN elastin
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FOXC1 forkhead box C1
FOXE3 forkhead box E3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
LIMK1 LIM domain kinase 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MKS1 Meckel syndrome, type 1
NDP Norrie disease (pseudoglioma)
PALB2 partner and localizer of BRCA2
PAX6 paired box 6
PITX2 paired-like homeodomain 2
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SLX4 SLX4 structure-specific endonuclease subunit
TBL2 transducin (beta)-like 2
TCTN2 tectonic family member 2
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
UBE2T ubiquitin-conjugating enzyme E2T
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2