All genes

117 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCA4 ATP binding cassette subfamily A member 4 1 p22.1 0 0 0 N/A -
ABCC6 ATP binding cassette subfamily C member 6 16 p13.11 0 0 0 N/A -
ADGRA3 adhesion G protein-coupled receptor A3 4 p15.2 0 0 0 N/A -
ADGRV1 adhesion G protein-coupled receptor V1 5 q14.3 0 0 0 N/A -
AHI1 Abelson helper integration site 1 6 q23.3 0 0 0 N/A -
AIPL1 aryl hydrocarbon receptor interacting protein like 1 17 p13.2 0 0 0 N/A -
ALMS1 ALMS1 centrosome and basal body associated protein 2 p13.1 0 0 0 N/A -
ARL6 ADP ribosylation factor like GTPase 6 3 q11.2 0 0 0 N/A -
ATXN7 ataxin 7 3 p14.1 0 0 0 N/A -
BBS1 Bardet-Biedl syndrome 1 11 q13.2 0 0 0 N/A -
BBS10 Bardet-Biedl syndrome 10 12 q21.2 0 0 0 N/A -
BBS12 Bardet-Biedl syndrome 12 4 q27 0 0 0 N/A -
BBS2 Bardet-Biedl syndrome 2 16 q13 0 0 0 N/A -
BBS4 Bardet-Biedl syndrome 4 15 q24.1 0 0 0 N/A RP (AR)
BBS5 Bardet-Biedl syndrome 5 2 q31.1 0 0 0 N/A RP (AR)
BBS7 Bardet-Biedl syndrome 7 4 q27 0 0 0 N/A RP (AR)
BBS9 Bardet-Biedl syndrome 9 7 p14.3 0 0 0 N/A RP (AR)
BEST1 bestrophin 1 11 q12.3 0 0 0 N/A RP (AR)
CA4 carbonic anhydrase 4 17 q23.1 0 0 0 N/A RP (AR)
CDH23 cadherin related 23 10 q22.1 0 0 0 N/A RP (AR)
CDHR1 cadherin related family member 1 10 q23.1 0 0 0 N/A RP (AR)
CEP164 centrosomal protein 164 11 q23.3 0 0 0 N/A RP (AR)
CEP290 centrosomal protein 290 12 q21.32 0 0 0 N/A RP (AR)
CERKL ceramide kinase like 2 q31.3 0 0 0 N/A RP (AR)
CFAP410 cilia and flagella associated protein 410 21 q22.3 0 0 0 N/A RP (AR)
CFAP418 cilia and flagella associated protein 418 8 q22.1 0 0 0 N/A RP (AR)
CHM CHM Rab escort protein X q21.2 0 0 0 N/A RP (XL)
CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin 16 p12.1 0 0 0 N/A RP (AR)
CLRN1 clarin 1 3 q25.1 0 0 0 N/A RP (AR)
CNGA1 cyclic nucleotide gated channel subunit alpha 1 4 p12 0 0 0 N/A RP (AR)
CNGA3 cyclic nucleotide gated channel subunit alpha 3 2 q11.2 0 0 0 N/A RP (AR)
CNGB1 cyclic nucleotide gated channel subunit beta 1 16 q21 0 0 0 N/A RP (AR)
CNGB3 cyclic nucleotide gated channel subunit beta 3 8 q21.3 0 0 0 N/A RP (AR)
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 2 q11.2 0 0 0 N/A RP (AR)
COL11A1 collagen type XI alpha 1 chain 1 p21.1 0 0 0 N/A RP (AR)
CRB1 crumbs cell polarity complex component 1 1 q31.3 0 0 0 N/A RP (AR)
CRX cone-rod homeobox 19 q13.33 0 0 0 N/A -
CYP4V2 cytochrome P450 family 4 subfamily V member 2 4 q35.1-q35.2 0 0 0 N/A RP (AR)
DHRS9 dehydrogenase/reductase 9 2 q31.1 0 0 0 N/A RP (AR)
DMPK DM1 protein kinase 19 q13.32 0 0 0 N/A RP (AR)
E2F1 E2F transcription factor 1 20 q11.22 0 0 0 N/A RP (AR)
EYS eyes shut homolog 6 q12 0 0 0 N/A RP (AR)
FAM161A FAM161 centrosomal protein A 2 p15 0 0 0 N/A RP (AR)
FOXC1 forkhead box C1 6 p25.3 0 0 0 N/A RP (AR)
FSCN2 fascin actin-bundling protein 2, retinal 17 q25.3 0 0 0 N/A RP (AR)
GPR143 G protein-coupled receptor 143 X p22.2 0 0 0 N/A RP (AR)
GPR179 G protein-coupled receptor 179 17 q12 0 0 0 N/A RP (AR)
GRK1 G protein-coupled receptor kinase 1 13 q34 0 0 0 N/A RP (AR)
GUCA1A guanylate cyclase activator 1A 6 p21.1 0 0 0 N/A RP (AR)
GUCA1B guanylate cyclase activator 1B 6 p21.1 0 0 0 N/A RP (AR)
GUCY2D guanylate cyclase 2D, retinal 17 p13.1 0 0 0 N/A RP (AR)
HMCN1 hemicentin 1 1 q25.3-q31.1 0 0 0 N/A RP (AR)
IMPDH1 inosine monophosphate dehydrogenase 1 7 q32.1 0 0 0 N/A RP (AR)
IMPG2 interphotoreceptor matrix proteoglycan 2 3 q12.3 0 0 0 N/A RP (AR)
IQCB1 IQ motif containing B1 3 q13.33 0 0 0 N/A RP (AR)
JAG1 jagged canonical Notch ligand 1 20 p12.2 0 0 0 N/A RP (AR)
KIF21A kinesin family member 21A 12 q12 0 0 0 N/A RP (AR)
LCA5 lebercilin LCA5 6 q14.1 0 0 0 N/A RP (AR)
LRAT lecithin retinol acyltransferase 4 q32.1 0 0 0 N/A RP (AR)
LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 4 q25 0 0 0 N/A RP (AR)
LRP5 LDL receptor related protein 5 11 q13.2 0 0 0 N/A RP (AR)
MAPRE2 microtubule associated protein RP/EB family member 2 18 q12.1-q12.2 0 0 0 N/A RP (AR)
MED12 mediator complex subunit 12 X q13.1 0 0 0 N/A RP (XL)
MERTK MER proto-oncogene, tyrosine kinase 2 q13 0 0 0 N/A RP (AR)
MFN2 mitofusin 2 1 p36.22 0 0 0 N/A RP (AR)
MKKS MKKS centrosomal shuttling protein 20 p12.2 0 0 0 N/A RP (AR)
MPZ myelin protein zero 1 q23.3 0 0 0 N/A RP (AR)
MYO7A myosin VIIA 11 q13.5 0 0 0 N/A RP (AR)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1 p36.22 0 0 0 N/A RP (AR)
NR2E3 nuclear receptor subfamily 2 group E member 3 15 q23 0 0 0 N/A RP (AR)
NUDT19 nudix hydrolase 19 19 q13.11 0 0 0 N/A RP (AR)
OAT ornithine aminotransferase 10 q26.13 0 0 0 N/A RP (AR)
OFD1 OFD1 centriole and centriolar satellite protein X p22.2 0 0 0 N/A RP (XL)
OPA1 OPA1 mitochondrial dynamin like GTPase 3 q29 0 0 0 N/A RP (AR)
OTX2 orthodenticle homeobox 2 14 q22.3 0 0 0 N/A RP (AR)
PANK2 pantothenate kinase 2 20 p13 0 0 0 N/A RP (AR)
PCARE photoreceptor cilium actin regulator 2 p23.2 0 0 0 N/A RP (AR)
PCDH15 protocadherin related 15 10 q21.1 0 0 0 N/A RP (AR)
PDE6A phosphodiesterase 6A 5 q32 0 0 0 N/A RP (AR)
PDE6B phosphodiesterase 6B 4 p16.3 0 0 0 N/A RP (AR)
PDE6C phosphodiesterase 6C 10 q23.33 0 0 0 N/A RP (AR)
PRCD photoreceptor disc component 17 q25.1 0 0 0 N/A RP (AR)
PROM1 prominin 1 4 p15.32 0 0 0 N/A RP (AR)
PRPF3 pre-mRNA processing factor 3 1 q21.2 0 0 0 N/A RP (AR)
PRPF31 pre-mRNA processing factor 31 19 q13.42 0 0 0 N/A RP (AR)
PRPF6 pre-mRNA processing factor 6 20 q13.33 0 0 0 N/A RP (AR)
PRPF8 pre-mRNA processing factor 8 17 p13.3 0 0 0 N/A RP (AR)
PRPH2 peripherin 2 6 p21.1 0 0 0 N/A RP (AR)
RAX2 retina and anterior neural fold homeobox 2 19 p13.3 0 0 0 N/A RP (AR)
RBP3 retinol binding protein 3 10 q11.22 0 0 0 N/A RP (AR)
RDH12 retinol dehydrogenase 12 14 q24.1 0 0 0 N/A RP (AR)
RDH5 retinol dehydrogenase 5 12 q13.2 0 0 0 N/A RP (AR)
RHO rhodopsin 3 q22.1 0 0 0 N/A RP (AR)
RHOD ras homolog family member D 11 q13.2 1 0 0 N/A RP (AR)
RIMS1 regulating synaptic membrane exocytosis 1 6 q13 0 0 0 N/A RP (AR)
RLBP1 retinaldehyde binding protein 1 15 q26.1 0 0 0 N/A RP (AR)
RP1 RP1 axonemal microtubule associated 8 q11.23-q12.1 0 0 0 N/A RP (AR)
RP2 RP2 activator of ARL3 GTPase X p11.3 0 0 0 N/A RP (XL)
RPE65 retinoid isomerohydrolase RPE65 1 p31.3 0 0 0 N/A RP (AR)
RPGR retinitis pigmentosa GTPase regulator X p11.4 0 0 0 N/A RP (XL)
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