iris coloboma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A coloboma of the iris. (Human Phenotype Ontology, HP_0000612)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000612
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Genes

110 genes associated with the iris coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACTB actin, beta
ACTG1 actin gamma 1
AHI1 Abelson helper integration site 1
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ANK1 ankyrin 1, erythrocytic
ARL13B ADP-ribosylation factor-like 13B
ATOH7 atonal homolog 7 (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
COL4A1 collagen, type IV, alpha 1
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CSPP1 centrosome and spindle pole associated protein 1
DHCR7 7-dehydrocholesterol reductase
ERF Ets2 repressor factor
FAM111A family with sequence similarity 111, member A
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
GDF3 growth differentiation factor 3
GJA8 gap junction protein, alpha 8, 50kDa
GMPPA GDP-mannose pyrophosphorylase A
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HCCS holocytochrome c synthase
HRAS Harvey rat sarcoma viral oncogene homolog
IGBP1 immunoglobulin (CD79A) binding protein 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
KCTD1 potassium channel tetramerization domain containing 1
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LRP2 low density lipoprotein receptor-related protein 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NELFA negative elongation factor complex member A
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PAX6 paired box 6
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
PTCH2 patched 2
RB1 retinoblastoma 1
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SALL2 spalt-like transcription factor 2
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SIX6 SIX homeobox 6
SOX2 SRY (sex determining region Y)-box 2
SRD5A3 steroid 5 alpha-reductase 3
SUFU suppressor of fused homolog (Drosophila)
TBX22 T-box 22
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM114 transmembrane protein 114
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
YAP1 Yes-associated protein 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423