aplasia/hypoplasia of the iris Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the iris. (Human Phenotype Ontology, HP_0008053)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008053
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Genes

69 genes associated with the aplasia/hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO 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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHN1 chimerin 1
CLIP2 CAP-GLY domain containing linker protein 2
COL4A1 collagen, type IV, alpha 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX5 distal-less homeobox 5
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
FAM111A family with sequence similarity 111, member A
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
FBN1 fibrillin 1
FBXW4 F-box and WD repeat domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC1 forkhead box C1
FOXE3 forkhead box E3
GJA1 gap junction protein, alpha 1, 43kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HHAT hedgehog acyltransferase
LAMB2 laminin, beta 2 (laminin S)
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
NDP Norrie disease (pseudoglioma)
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PAX6 paired box 6
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PORCN porcupine homolog (Drosophila)
POU6F2 POU class 6 homeobox 2
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SLX4 SLX4 structure-specific endonuclease subunit
SOX10 SRY (sex determining region Y)-box 10
STIM1 stromal interaction molecule 1
TBL2 transducin (beta)-like 2
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TP63 tumor protein p63
WDPCP WD repeat containing planar cell polarity effector
WNT10B wingless-type MMTV integration site family, member 10B
WT1 Wilms tumor 1