abnormality of the iris Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. (Human Phenotype Ontology, HP_0000525)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000525
Similar Terms
Downloads & Tools

Genes

245 genes associated with the abnormality of the iris 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)
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTSL4 ADAMTS-like 4
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ANK1 ankyrin 1, erythrocytic
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARL13B ADP-ribosylation factor-like 13B
ASPH aspartate beta-hydroxylase
ATOH7 atonal homolog 7 (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
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
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRDL1 chordin-like 1
CLIP2 CAP-GLY domain containing linker protein 2
COL3A1 collagen, type III, alpha 1
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
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX5 distal-less homeobox 5
DTNBP1 dystrobrevin binding protein 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
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
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXE3 forkhead box E3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF3 growth differentiation factor 3
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GMPPA GDP-mannose pyrophosphorylase A
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPR143 G protein-coupled receptor 143
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HCCS holocytochrome c synthase
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HHAT hedgehog acyltransferase
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
IGBP1 immunoglobulin (CD79A) binding protein 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCTD1 potassium channel tetramerization domain containing 1
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LMX1B LIM homeobox transcription factor 1, beta
LPAR6 lysophosphatidic acid receptor 6
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MLPH melanophilin
MPZ myelin protein zero
MYH11 myosin, heavy chain 11, smooth muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PAX6 paired box 6
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
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)
POU6F2 POU class 6 homeobox 2
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RB1 retinoblastoma 1
RFC2 replication factor C (activator 1) 2, 40kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 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
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC45A2 solute carrier family 45, member 2
SLX4 SLX4 structure-specific endonuclease subunit
SNAI2 snail family zinc finger 2
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SRD5A3 steroid 5 alpha-reductase 3
STIM1 stromal interaction molecule 1
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
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)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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
TP63 tumor protein p63
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UROC1 urocanate hydratase 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT3 wingless-type MMTV integration site family, member 3
WT1 Wilms tumor 1
YAP1 Yes-associated protein 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423