aplasia/hypoplasia affecting the uvea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. (Human Phenotype Ontology, HP_0008055)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008055
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Genes

70 genes associated with the aplasia/hypoplasia affecting the uvea 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
TRIM37 tripartite motif containing 37
WDPCP WD repeat containing planar cell polarity effector
WNT10B wingless-type MMTV integration site family, member 10B
WT1 Wilms tumor 1