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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal optic disc morphology
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Accession:HP:0012795 term browser browse the term
Definition:A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
Comment:The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
Synonyms:xref: UMLS:C3808249


show annotations for term's descendants           Sort by:
Abnormal optic disc morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO ORPHA:65 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:65 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:65 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:65 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:891 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility IAGP DNA:snp, missense mutations, haplotype:promoter, cds:multiple RGD PMID:18055790 RGD:7800696 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:891 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:65 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO ORPHA:65 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:65 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO ORPHA:65 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:65 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP HPO ORPHA:65 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:65 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:65 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:891 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4132G>A RGD PMID:17454741 RGD:5490236 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MYOC myocilin susceptibility IAGP DNA:snp:cds:pT377R
DNA:snps:cds:multiple
DNA:missense mutations, nonsense mutation:cds:multiple
DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A
DNA:snp:cds:p.G367R
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11
DNA:snps:cds:p.G12R, p.V53A, p.T353I
DNA:snp:cds:p.D384N
DNA:snp:cds:p.N450Y
DNA:mutations:multiple
DNA:insertion:cds:p.D395_E396insDP		 RGD PMID:23886590 PMID:12189160 PMID:12442283 PMID:15483649 PMID:21655360 More... RGD:7394787, RGD:7401189, RGD:7401186, RGD:7401175, RGD:7401170, RGD:7401168, RGD:7401163, RGD:7394848, RGD:7394828, RGD:7394801, RGD:7394798 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:891 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO ORPHA:65 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:65 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:snp:cds:p.Q192R (rs662) RGD PMID:22553514 RGD:8547563 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO OMIM:617516 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RD3 RD3 regulator of GUCY2D IAGP HPO ORPHA:65 NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:65 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP DNA:SNP:intron: (rs2252865) RGD PMID:22058429 RGD:329849125 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:65 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:65 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:65 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G TSPAN12 tetraspanin 12 IAGP HPO ORPHA:891 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402 		JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP HPO ORPHA:65 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO ORPHA:65 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP HPO ORPHA:65 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO ORPHA:891 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
Diffuse optic disc pallor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
Increased cup-to-disc ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASB10 ankyrin repeat and SOCS box containing 10 IAGP HPO OMIM:603383 NCBI chr 7:151,175,698...151,187,792
Ensembl chr 7:151,175,698...151,187,832 		JBrowse link
G CDH11 cadherin 11 IAGP HPO OMIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:618880 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility
severity		 IAGP DNA:snp:cds:p.L432V
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC
DNA:duplication:exon:g.1546-1555dupTCATGCCACC
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N
DNA:snp:cds:p.N453S		 HPO
RGD		 PMID:18483560 PMID:19247456 PMID:12567107 PMID:19597567 PMID:16319821 ORPHA:98977, RGD:7800658, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800664 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO ORPHA:98977 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G ESR2 estrogen receptor 2 severity IAGP DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) RGD PMID:20399928 RGD:8694092 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:cds
DNA:deletion, haplotype:cds		 RGD PMID:11040079 PMID:18334963 RGD:7488947, RGD:7488955 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G MYOC myocilin no_association IAGP DNA:mutations:multiple
DNA:snp:cds:p.Q48H
DNA:snp:cds:p.G252R
DNA:snp:promoter:g.-1000C>G
DNA:snp:cds:pD380A
DNA:snps:cds:p.A363T		 HPO
RGD		 PMID:22736945 PMID:12447164 PMID:17197538 PMID:12215093 PMID:17893668 More... ORPHA:98977, RGD:7394816, RGD:7394843, RGD:7401164, RGD:7401240, RGD:7401248, RGD:7401254 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 IAGP DNA:duplication:intron:IVS4?-?+27
DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) 		RGD PMID:20069064 PMID:23422825 PMID:21245953 PMID:21245953 RGD:7771573, RGD:7775046, RGD:7775039, RGD:7775039 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PON1 paraoxonase 1 severity IAGP DNA:missense mutations:cds:p.L55M, p.Q192R
associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R		 RGD PMID:16411107 PMID:10677395 RGD:8547552, RGD:8547560 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP DNA:SNP:intron: (rs2252865) RGD PMID:22058429 RGD:329849125 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP HPO OMIM:617272 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
Increased vertical cup-to-disc ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RERE arginine-glutamic acid dipeptide repeats IAGP DNA:SNP:intron: (rs2252865) RGD PMID:22058429 RGD:329849125 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
Megalopapilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
Optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO OMIM:231550 ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:442835 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:791 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP HPO OMIM:612674 NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO ORPHA:26792 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACO2 aconitase 2 IAGP HPO OMIM:614559 OMIM:616289 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO OMIM:264470 ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ACTL6B actin like 6B IAGP HPO ORPHA:442835 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO OMIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAM22 ADAM metallopeptidase domain 22 IAGP HPO OMIM:617933 NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO OMIM:616368 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Optic atrophy
ClinVar Annotator: match by term: Optic-nerve degeneration		 ClinVar
HPO		 PMID:25741868 PMID:26467025 PMID:26539208 PMID:28492532 PMID:29181157 More... OMIM:618977 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 IAGP HPO ORPHA:791 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO OMIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:791 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AHR aryl hydrocarbon receptor IAGP HPO ORPHA:791 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO ORPHA:99802 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO OMIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO OMIM:601110 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO OMIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO OMIM:230740 ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO OMIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO ORPHA:442835 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 IAGP HPO ORPHA:791 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP HPO ORPHA:791 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARSA arylsulfatase A IAGP HPO OMIM:250100 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP HPO ORPHA:442835 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO OMIM:300004 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASPA aspartoacylase IAGP HPO OMIM:271900 ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO OMIM:617183 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATG7 autophagy related 7 IAGP HPO OMIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IAGP HPO OMIM:608688 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:442835 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP DNA:missense mutation:exon:p.E818K (c.2452G>A) HPO
RGD		 PMID:24468074 OMIM:601338 ORPHA:1171 ORPHA:442835, RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO OMIM:618012 ORPHA:442835 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 IAGP HPO ORPHA:254913 NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO OMIM:164400 ORPHA:98755 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN7 ataxin 7 IAGP HPO OMIM:164500 NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO OMIM:250950 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:588 ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:791 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:791 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO OMIM:300475 ORPHA:369939 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BEST1 bestrophin 1 IAGP HPO ORPHA:791 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BOLA3 bolA family member 3 IAGP HPO OMIM:614299 NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO OMIM:614498 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G BTD biotinidase IAGP HPO OMIM:253260 ORPHA:79241 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:614298 OMIM:615043 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CA4 carbonic anhydrase 4 IAGP HPO ORPHA:791 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:442835 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO ORPHA:442835 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:442835 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:428 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 ORPHA:791 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO OMIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO OMIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDHR1 cadherin related family member 1 IAGP HPO ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO ORPHA:442835 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO ORPHA:442835 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CERKL ceramide kinase like IAGP HPO ORPHA:791 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO OMIM:604928 ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO OMIM:272440 ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO OMIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO OMIM:611490 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO OMIM:204200 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO ORPHA:411493 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G CLRN1 clarin 1 IAGP HPO ORPHA:791 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO ORPHA:442835 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP HPO ORPHA:791 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681 		JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP HPO ORPHA:791 NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO ORPHA:442835 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO ORPHA:1873 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO OMIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO OMIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP HPO OMIM:619876 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:791 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:588 ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:791 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO OMIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO OMIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNA2 catenin alpha 2 IAGP HPO OMIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO OMIM:615075 ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO ORPHA:442835 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:270800 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G CYRIA CYFIP related Rac1 interactor A IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:16,549,459...16,665,834
Ensembl chr 2:16,549,459...16,666,331 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO ORPHA:442835 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DDX1 DEAD-box helicase 1 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO OMIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 ORPHA:791 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHX38 DEAH-box helicase 38 IAGP HPO ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO OMIM:616632 ORPHA:477814 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO OMIM:610198 ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:104 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNM1 dynamin 1 IAGP HPO OMIM:620352 ORPHA:442835 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO OMIM:610708 OMIM:614388 ORPHA:330050 ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO OMIM:604121 ORPHA:314404 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO OMIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO OMIM:615042 ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO OMIM:274270 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO ORPHA:442835 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP HPO OMIM:603896 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP HPO OMIM:620312 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP HPO OMIM:620314 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO ORPHA:1764 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP HPO OMIM:617141 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO OMIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO OMIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:1466 ORPHA:220295 ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO OMIM:610651 ORPHA:220295 ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 ORPHA:220295 ORPHA:90321 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 ORPHA:220295 ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 OMIM:278800 ORPHA:1466 ORPHA:90321 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 ORPHA:90321 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO ORPHA:207 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO OMIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G EYS eyes shut homolog IAGP HPO ORPHA:791 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO OMIM:612319 ORPHA:171629 ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FAM161A FAM161 centrosomal protein A IAGP HPO ORPHA:791 NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO ORPHA:442835 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FCSK fucose kinase IAGP HPO OMIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO OMIM:617717 ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO ORPHA:442835 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO ORPHA:442835 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:123500 OMIM:123790 ORPHA:1555 ORPHA:207 ORPHA:794 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 ORPHA:93262 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FH fumarate hydratase IAGP HPO OMIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:236670 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 OMIM:253800 ORPHA:272 ORPHA:588 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP HPO ORPHA:320406 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO OMIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:442835 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO OMIM:618241 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO OMIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523 		JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO OMIM:607921 ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130 		JBrowse link
G FXN frataxin IAGP HPO OMIM:229300 ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO ORPHA:442835 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:442835 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO ORPHA:442835 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO ORPHA:442835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO ORPHA:442835 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:442835 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GALC galactosylceramidase IAGP HPO OMIM:245200 ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO OMIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:218400 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO OMIM:608804 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230600 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO OMIM:616859 ORPHA:401866 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 ORPHA:588 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:428 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:3205 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO OMIM:617810 ORPHA:529665 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO ORPHA:442835 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G GRN granulin precursor IAGP HPO OMIM:614706 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G GUCA1B guanylate cyclase activator 1B IAGP HPO ORPHA:791 NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:442835 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO ORPHA:791 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP HPO OMIM:616881 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B12 (human) HPO
RGD		 PMID:3341436 ORPHA:397, RGD:7365121 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO OMIM:300438 ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO OMIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO OMIM:615330 OMIM:616451 ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO ORPHA:791 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IAGP HPO ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:791 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP HPO ORPHA:791 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO ORPHA:791 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO ORPHA:791 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO ORPHA:791 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO ORPHA:559 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO OMIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G INTS8 integrator complex subunit 8 IAGP HPO OMIM:618572 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746 		JBrowse link
G ISCA2 iron-sulfur cluster assembly 2 IAGP ClinVar Annotator: match by term: Optic atrophy HPO
ClinVar		 PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... OMIM:616370 NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO ORPHA:442835 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO ORPHA:442835 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO OMIM:605259 ORPHA:98768 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO OMIM:611726 ORPHA:263516 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G KIAA1549 KIAA1549 IAGP HPO ORPHA:791 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO OMIM:152950 ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:614255 ORPHA:2836 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KIZ kizuna centrosomal protein IAGP HPO ORPHA:791 NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO OMIM:609541 ORPHA:320406 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO ORPHA:791 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO OMIM:613328 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP HPO OMIM:236792 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LAMB1 laminin subunit beta 1 IAGP HPO OMIM:615191 ORPHA:352682 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 OMIM:613154 ORPHA:588 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:791 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3152 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:178377 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MAG myelin associated glycoprotein IAGP HPO OMIM:616680 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MAK male germ cell associated kinase IAGP HPO ORPHA:791 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase IAGP HPO OMIM:620583 NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO OMIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... OMIM:617282 ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase IAGP HPO ORPHA:791 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561 		JBrowse link
G MFF mitochondrial fission factor IAGP HPO OMIM:617086 ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833 		JBrowse link
G MFN2 mitofusin 2 IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:16437557 OMIM:601152 OMIM:609260 OMIM:617087 ORPHA:99947, RGD:1601409 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO OMIM:610951 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP HPO OMIM:618329 NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO OMIM:615673 ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MID2 midline 2 IAGP HPO OMIM:300928 NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO OMIM:619527 ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO OMIM:606056 ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO OMIM:609180 ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO OMIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO OMIM:234050 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP HPO OMIM:617664 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO OMIM:535000 ORPHA:104 ORPHA:225154 ORPHA:254913 ORPHA:255210 ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar
HPO		 PMID:28027978 ORPHA:104 ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO OMIM:535000 ORPHA:104 ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO OMIM:535000 ORPHA:104 ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4216T>C HPO
RGD		 PMID:9309689 OMIM:535000 ORPHA:104 ORPHA:255210 ORPHA:550, RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO OMIM:535000 ORPHA:104 ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO OMIM:535000 ORPHA:104 ORPHA:255210 ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP HPO OMIM:535000 ORPHA:104 NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO OMIM:535000 ORPHA:104 ORPHA:255210 ORPHA:550 ORPHA:551 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO OMIM:535000 ORPHA:104 ORPHA:255210 ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP HPO ORPHA:551 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 ORPHA:551 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 ORPHA:550 ORPHA:551 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TP mitochondrially encoded tRNA-Pro (CCN) IAGP HPO ORPHA:551 NCBI chr MT:15,956...16,023
Ensembl chr MT:15,956...16,023 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 ORPHA:550 ORPHA:551 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP HPO OMIM:614947 OMIM:618248 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP HPO OMIM:614702 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO ORPHA:99802 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP HPO OMIM:613672 ORPHA:254343 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO OMIM:613559 OMIM:615035 ORPHA:254930 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MTSS2 MTSS I-BAR domain containing 2 IAGP HPO OMIM:620086 NCBI chr16:70,661,204...70,686,053
Ensembl chr16:70,661,204...70,686,053 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249 		JBrowse link
G MYO5A myosin VA IAGP HPO ORPHA:33445 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO OMIM:616034 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO OMIM:609241 ORPHA:79279 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO OMIM:615419 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO OMIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO OMIM:310600 ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO OMIM:618236 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,276...5,904,006 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP HPO OMIM:618249 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO OMIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO OMIM:618233 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO OMIM:618237 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO OMIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO OMIM:618776 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO OMIM:618226 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO OMIM:618228 OMIM:620569 ORPHA:104 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO OMIM:618229 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP HPO ORPHA:442835 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NEK2 NIMA related kinase 2 IAGP HPO ORPHA:791 NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93399 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:608553 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:2289 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO ORPHA:791 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO OMIM:615722 ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO OMIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NRL neural retina leucine zipper IAGP HPO ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO OMIM:613162 ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO OMIM:617830 ORPHA:442835 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO OMIM:271930 ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G OAT ornithine aminotransferase IAGP ClinVar Annotator: match by term: Optic-nerve degeneration ClinVar PMID:25741868 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L IAGP HPO OMIM:619701 NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP DNA:mutations:multiple
ClinVar Annotator: match by term: Optic atrophy
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T
DNA:SNPs, deletions:exons:multiple
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:duplication:exons, introns:g.194832822_194840568dup		 HPO
ClinVar
RGD		 PMID:11440988 PMID:12036970 PMID:19112530 PMID:19319978 PMID:19969356 More... OMIM:125250 OMIM:165500 OMIM:210000 OMIM:616896 ORPHA:1215 ORPHA:98673, RGD:7800715, RGD:7800714, RGD:7800699, RGD:7800704, RGD:7800706, RGD:7800708, RGD:7800709 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO OMIM:165300 OMIM:258501 ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO ORPHA:442835 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO OMIM:234200 ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:618437 ORPHA:442835 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:2253 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP HPO ORPHA:791 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 IAGP HPO OMIM:261680 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO OMIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PCYT2 phosphate cytidylyltransferase 2, ethanolamine IAGP HPO OMIM:618770 NCBI chr17:81,900,958...81,911,399
Ensembl chr17:81,900,958...81,911,432 		JBrowse link
G PDE6A phosphodiesterase 6A IAGP HPO ORPHA:791 NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793 		JBrowse link
G PDE6B phosphodiesterase 6B IAGP HPO ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO OMIM:245349 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 IAGP HPO OMIM:614651 NCBI chr10:26,697,701...26,746,798
Ensembl chr10:26,697,701...26,746,798 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:601539 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO OMIM:614877 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO OMIM:614863 ORPHA:44 ORPHA:772 ORPHA:912 ORPHA:95433 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:1154 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24463883 PMID:25558065 PMID:28492532 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO OMIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:60040 ORPHA:99802 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:613328 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:256600 OMIM:610217 ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO OMIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO OMIM:616171 ORPHA:2518 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO OMIM:312080 OMIM:312920 ORPHA:280234 ORPHA:99015 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Optic-nerve degeneration ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PMPCB peptidase, mitochondrial processing subunit beta IAGP HPO OMIM:617954 NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:258450 ORPHA:254881 ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO OMIM:619425 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO OMIM:607694 ORPHA:3455 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO OMIM:607694 OMIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLR3K RNA polymerase III subunit K IAGP HPO OMIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:253280 OMIM:613151 ORPHA:370959 ORPHA:588 ORPHA:791 ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:236670 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO OMIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO ORPHA:442835 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO OMIM:256730 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260 		JBrowse link
G PRCD photoreceptor disc component IAGP HPO ORPHA:791 NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP HPO OMIM:308905 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PROM1 prominin 1 IAGP HPO ORPHA:791 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 IAGP HPO ORPHA:791 NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233 		JBrowse link
G PRPF31 pre-mRNA processing factor 31 IAGP HPO ORPHA:791 NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719 		JBrowse link
G PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 IAGP HPO ORPHA:791 NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP HPO ORPHA:791 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP HPO ORPHA:791 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP DNA:missense mutation:exon:p.S16P HPO
RGD		 PMID:25491489 OMIM:301835 OMIM:311070 ORPHA:1187 ORPHA:99014, RGD:11056008 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO OMIM:617481 ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PSAP prosaposin IAGP HPO OMIM:611721 ORPHA:206436 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 IAGP HPO OMIM:619057 NCBI chr 2:86,106,235...86,142,157
Ensembl chr 2:86,106,223...86,142,157 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO OMIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:600118 ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:614225 ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 IAGP HPO OMIM:619690 NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO OMIM:311900 ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO OMIM:309555 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO ORPHA:791 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO ORPHA:791 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 ORPHA:1606 ORPHA:494344 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP HPO ORPHA:504476 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RGR retinal G protein coupled receptor IAGP HPO ORPHA:791 NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960 		JBrowse link
G RHO rhodopsin IAGP HPO ORPHA:791 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RHOA ras homolog family member A IAGP HPO OMIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:791 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO OMIM:619686 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP HPO ORPHA:791 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP HPO ORPHA:791 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720 		JBrowse link
G RP1L1 RP1 like 1 IAGP HPO ORPHA:791 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP HPO ORPHA:791 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G RP9 RP9 pre-mRNA splicing factor IAGP HPO ORPHA:791 NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:791 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:791 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:791 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP HPO ORPHA:3129 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:791 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO ORPHA:442835 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO ORPHA:442835 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP HPO ORPHA:466794 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO OMIM:618766 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:252011 OMIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO OMIM:607812 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO OMIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166 		JBrowse link
G SELENOI selenoprotein I IAGP HPO OMIM:618768 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SERAC1 serine active site containing 1 IAGP HPO OMIM:614739 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:442835 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO OMIM:249270 ORPHA:49827 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO ORPHA:442835 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO OMIM:607196 ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:616505 OMIM:619303 ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO OMIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP HPO ORPHA:442835 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:144755 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO OMIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP HPO OMIM:614707 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO OMIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLC7A14 solute carrier family 7 member 14 IAGP HPO ORPHA:791 NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:33299146 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP HPO ORPHA:791 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO OMIM:615085 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:122860 OMIM:269500 ORPHA:1513 ORPHA:3152 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO OMIM:616803 ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO ORPHA:1513 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO OMIM:607259 ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO OMIM:612379 ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G SSBP1 single stranded DNA binding protein 1 IAGP HPO OMIM:165510 NCBI chr 7:141,738,321...141,750,488
Ensembl chr 7:141,738,334...141,787,922 		JBrowse link
G ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 IAGP HPO OMIM:609056 NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199 		JBrowse link
G STAMBP STAM binding protein IAGP HPO OMIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STT3B STT3 oligosaccharyltransferase complex catalytic subunit B IAGP HPO OMIM:615597 ORPHA:370924 NCBI chr 3:31,532,925...31,637,616
Ensembl chr 3:31,532,638...31,637,616 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO OMIM:610743 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:442835 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:442835 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO ORPHA:442835 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP HPO OMIM:619052 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO OMIM:615663 ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 OMIM:615338 ORPHA:352596 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO OMIM:619323 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO OMIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO OMIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO OMIM:617207 ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO OMIM:259700 ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP HPO OMIM:620451 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO OMIM:615658 ORPHA:431329 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THG1L tRNA-histidine guanylyltransferase 1 like IAGP HPO OMIM:618800 NCBI chr 5:157,731,420...157,741,449
Ensembl chr 5:157,731,420...157,741,449 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO OMIM:617698 ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM126A transmembrane protein 126A IAGP HPO OMIM:612989 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO OMIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,145...27,336,400 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO OMIM:614424 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM53 transmembrane protein 53 IAGP HPO OMIM:619727 NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481 		JBrowse link
G TMEM63A transmembrane protein 63A IAGP HPO OMIM:618688 NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO OMIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO OMIM:612301 ORPHA:1782 ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO OMIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO OMIM:614969 ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO OMIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO ORPHA:442835 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO OMIM:617669 ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO OMIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO OMIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TUB TUB bipartite transcription factor IAGP HPO ORPHA:791 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO OMIM:612438 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO OMIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO ORPHA:2518 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO ORPHA:2518 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:271245 ORPHA:1186 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TXN2 thioredoxin 2 IAGP HPO OMIM:616811 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO ORPHA:442835 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO ORPHA:2707 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO OMIM:615491 OMIM:620221 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USH2A usherin IAGP HPO ORPHA:791 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G VCAN versican IAGP HPO OMIM:143200 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO OMIM:616683 ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO OMIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO OMIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO OMIM:617710 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO OMIM:618346 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 ORPHA:83472 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP DNA:missense mutations, deletion:multiple
DNA:missense mutation:cds:p.R456H (rs1801206)		 HPO
RGD		 PMID:21538838 PMID:23595122 OMIM:222300 OMIM:614296 ORPHA:3463 ORPHA:411590, RGD:7800683, RGD:8694404 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO OMIM:614322 OMIM:616211 ORPHA:442835 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP HPO ORPHA:1473 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO OMIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP HPO ORPHA:442835 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO ORPHA:791 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
G ZNF513 zinc finger protein 513 IAGP HPO ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP HPO ORPHA:83472 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO OMIM:260565 ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO OMIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
Optic atrophy from cranial nerve compression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
Optic disc coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:309800 ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP HPO OMIM:613398 NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP ClinVar Annotator: match by term: Optic disk coloboma ClinVar PMID:31256877 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Optic disk coloboma
ClinVar Annotator: match by term: Coloboma of optic nerve
ClinVar Annotator: match by term: Optic nerve coloboma		 ClinVar PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More... NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:92050 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:83461 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO OMIM:600092 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO OMIM:300472 ORPHA:52055 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:309800 ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 ORPHA:1475 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Optic disk coloboma
ClinVar Annotator: match by term: Coloboma of optic nerve
ClinVar Annotator: match by term: Optic nerve coloboma		 ClinVar
HPO		 PMID:10234503 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12634864 More... OMIM:120200 OMIM:120430 ORPHA:35737 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO OMIM:608940 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP HPO ORPHA:92050 NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO OMIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SALL2 spalt like transcription factor 2 IAGP HPO OMIM:216820 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IAGP HPO OMIM:270420 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO OMIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
Optic disc drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO OMIM:264800 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO OMIM:204000 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:616394 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:364055 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:364055 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G MFRP membrane frizzled-related protein IAGP HPO OMIM:611040 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP HPO OMIM:600059 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867 		JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Optic disc drusen ClinVar PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More... NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:364055 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G TMEM98 transmembrane protein 98 IAGP HPO OMIM:615972 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO OMIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Optic disc pallor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO OMIM:601718 OMIM:604116 ORPHA:791 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ACER3 alkaline ceramidase 3 IAGP HPO OMIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ACO2 aconitase 2 IAGP HPO OMIM:616289 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:618977 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 IAGP HPO ORPHA:791 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:791 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AHR aryl hydrocarbon receptor IAGP HPO ORPHA:791 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO OMIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO OMIM:604393 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO OMIM:617276 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO OMIM:612936 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 IAGP HPO OMIM:617433 ORPHA:791 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP HPO OMIM:617523 NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP HPO OMIM:612291 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP HPO OMIM:615434 ORPHA:791 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO OMIM:164400 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:791 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO OMIM:616562 ORPHA:791 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BEST1 bestrophin 1 IAGP HPO OMIM:613194 ORPHA:791 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 IAGP HPO OMIM:614077 NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933 		JBrowse link
G CA4 carbonic anhydrase 4 IAGP HPO ORPHA:791 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO OMIM:300476 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO OMIM:300749 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:791 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CDHR1 cadherin related family member 1 IAGP HPO ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621 		JBrowse link
G CERKL ceramide kinase like IAGP HPO OMIM:608380 ORPHA:791 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO OMIM:614500 ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP HPO OMIM:609913 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO OMIM:611490 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLDN11 claudin 11 IAGP HPO OMIM:619328 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO ORPHA:79264 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO ORPHA:79264 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143 		JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO ORPHA:79264 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:1947 ORPHA:79264 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711 		JBrowse link
G CLRN1 clarin 1 IAGP HPO ORPHA:791 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP HPO OMIM:613756 ORPHA:791 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681 		JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP HPO ORPHA:791 NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128 		JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO OMIM:217080 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO OMIM:600105 ORPHA:791 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:791 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CTSD cathepsin D IAGP HPO ORPHA:79264 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO OMIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP HPO OMIM:615281 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:791 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHX38 DEAH-box helicase 38 IAGP HPO ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO ORPHA:79264 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO OMIM:610708 OMIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Optic disc pallor ClinVar PMID:24614070 PMID:25741868 PMID:28492532 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 IAGP HPO OMIM:618527 NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ESPN espin IAGP HPO OMIM:618632 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G EXOC8 exocyst complex component 8 IAGP HPO OMIM:619076 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852 		JBrowse link
G EYS eyes shut homolog IAGP HPO OMIM:602772 ORPHA:791 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G F5 coagulation factor V IAGP DNA:missense mutation:cds:p.R506Q (1691G>A) RGD PMID:15043529 RGD:7394764 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FAM161A FAM161 centrosomal protein A IAGP HPO OMIM:606068 ORPHA:791 NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO OMIM:617166 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP HPO ORPHA:320406 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP HPO OMIM:616389 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 IAGP HPO OMIM:616204 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157 		JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:79264 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GUCA1B guanylate cyclase activator 1B IAGP HPO ORPHA:791 NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO OMIM:614504 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:616544 ORPHA:791 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:617460 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HLA-A major histocompatibility complex, class I, A IAGP HPO ORPHA:179 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO ORPHA:791 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IAGP HPO OMIM:612572 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:791 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:616394 ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:617871 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP HPO ORPHA:791 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP DNA:missense mutation:exon:p.R224P HPO
RGD		 PMID:11875049 OMIM:180105 ORPHA:791, RGD:5144221 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO ORPHA:791 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO OMIM:613581 ORPHA:791 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G ITM2B integral membrane protein 2B IAGP HPO OMIM:616079 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP HPO OMIM:613730 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO ORPHA:98768 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP HPO OMIM:614186 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G KIAA1549 KIAA1549 IAGP HPO OMIM:618613 ORPHA:791 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO OMIM:617235 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KIZ kizuna centrosomal protein IAGP HPO ORPHA:791 NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO OMIM:609541 ORPHA:320406 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO ORPHA:791 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:364055 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO OMIM:613341 ORPHA:364055 ORPHA:791 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G LYRM7 LYR motif containing 7 IAGP HPO OMIM:615838 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428 		JBrowse link
G MAK male germ cell associated kinase IAGP HPO OMIM:614181 ORPHA:791 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO OMIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase IAGP HPO OMIM:620583 NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO OMIM:617282 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase IAGP HPO OMIM:613862 ORPHA:791 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561 		JBrowse link
G MFF mitochondrial fission factor IAGP HPO OMIM:617086 ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:601152 OMIM:617087 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MFRP membrane frizzled-related protein IAGP HPO OMIM:611040 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO OMIM:616170 ORPHA:79264 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MIEF1 mitochondrial elongation factor 1 IAGP HPO OMIM:620550 NCBI chr22:39,500,100...39,518,132
Ensembl chr22:39,499,432...39,518,132 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:617121 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:2609 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:2609 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:2609 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP HPO OMIM:614947 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:260920 OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,276...5,904,006 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP HPO OMIM:618249 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP HPO OMIM:618240 ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO OMIM:618776 ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO OMIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO ORPHA:2609 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO OMIM:618228 ORPHA:2609 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO OMIM:618230 ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEK2 NIMA related kinase 2 IAGP HPO ORPHA:791 NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:420179 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:608553 OMIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO ORPHA:791 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO OMIM:615722 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NRL neural retina leucine zipper IAGP HPO ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO OMIM:617082 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO OMIM:165300 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Optic disc pallor ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:618437 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP HPO ORPHA:791 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO OMIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PDE6A phosphodiesterase 6A IAGP HPO OMIM:613810 ORPHA:791 NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793 		JBrowse link
G PDE6B phosphodiesterase 6B IAGP HPO ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO OMIM:613582 ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO OMIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO OMIM:618889 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,221 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO OMIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POC1B POC1 centriolar protein B IAGP HPO OMIM:615973 NCBI chr12:89,419,718...89,526,047
Ensembl chr12:89,419,718...89,526,047 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:791 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO ORPHA:79264 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260 		JBrowse link
G PRCD photoreceptor disc component IAGP HPO OMIM:610599 ORPHA:791 NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578 		JBrowse link
G PROM1 prominin 1 IAGP HPO OMIM:612095 ORPHA:791 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP HPO OMIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 IAGP HPO ORPHA:791 NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233 		JBrowse link
G PRPF31 pre-mRNA processing factor 31 IAGP HPO OMIM:600138 ORPHA:791 NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719 		JBrowse link
G PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 IAGP HPO OMIM:615922 ORPHA:791 NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP HPO OMIM:613983 ORPHA:791 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP HPO ORPHA:791 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP HPO OMIM:620102 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO OMIM:615233 ORPHA:791 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO OMIM:612712 ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO ORPHA:791 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927 		JBrowse link
G RGR retinal G protein coupled receptor IAGP HPO ORPHA:791 NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960 		JBrowse link
G RHO rhodopsin IAGP DNA:deletion:exon:c.614_622del (p.Y206_F208del)
DNA:missense mutation:cds:c.448G>A (p.E150K)		 HPO
RGD		 PMID:22419850 PMID:19960070 ORPHA:791, RGD:8547991, RGD:8548512 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 IAGP HPO OMIM:618970 NCBI chr 8:103,500,610...104,256,094
Ensembl chr 8:103,500,610...104,254,430 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:791 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP HPO ORPHA:791 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP HPO OMIM:180100 ORPHA:791 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720 		JBrowse link
G RP1L1 RP1 like 1 IAGP HPO OMIM:618826 ORPHA:791 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP HPO ORPHA:791 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G RP9 RP9 pre-mRNA splicing factor IAGP HPO ORPHA:791 NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO OMIM:204100 ORPHA:364055 ORPHA:791 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 HPO
RGD		 PMID:20021257 ORPHA:791, RGD:8553233 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 IAGP HPO OMIM:616732 NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:791 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO OMIM:618195 ORPHA:791 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO OMIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SLC7A14 solute carrier family 7 member 14 IAGP HPO ORPHA:791 NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO OMIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP HPO OMIM:610359 ORPHA:791 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 ORPHA:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G STX3 syntaxin 3 IAGP HPO OMIM:619446 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G TASP1 taspase 1 IAGP HPO OMIM:618950 NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO OMIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TMEM126A transmembrane protein 126A IAGP HPO OMIM:612989 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:216360 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO OMIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO OMIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO ORPHA:79264 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO OMIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TUB TUB bipartite transcription factor IAGP HPO ORPHA:791 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO OMIM:251270 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO OMIM:600132 OMIM:613843 ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO OMIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G USH2A usherin IAGP HPO ORPHA:791 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP HPO OMIM:618513 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Optic disc pallor ClinVar PMID:15141358 PMID:16199547 PMID:16648375 PMID:20461111 PMID:24334764 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO OMIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO OMIM:614195 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO OMIM:614296 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO OMIM:616469 ORPHA:791 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
G ZNF513 zinc finger protein 513 IAGP HPO OMIM:613617 ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790 		JBrowse link
Papilledema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:127000 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:619471 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO OMIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:607115 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP DNA:snp:promoter:g.-786T>C RGD PMID:16633797 RGD:7775040 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG RGD PMID:16244763 RGD:8547742 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP HPO OMIM:620366 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:122860 OMIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TP53 tumor protein p53 IAGP HPO OMIM:260500 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP HPO OMIM:618775 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Peripapillary atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP HPO ORPHA:67042 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP HPO OMIM:216900 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO OMIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO OMIM:612943 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G MMP19 matrix metallopeptidase 19 IAGP HPO OMIM:611543 NCBI chr12:55,835,433...55,842,936
Ensembl chr12:55,835,433...55,842,966 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:617123 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO OMIM:618195 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G TUB TUB bipartite transcription factor IAGP HPO OMIM:616188 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243 		JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP HPO OMIM:617879 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO OMIM:613843 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO OMIM:616469 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
Pseudopapilledema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA3 GATA binding protein 3 IAGP HPO OMIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
Temporal optic disc pallor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP HPO ORPHA:98977 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO ORPHA:98977 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G MAG myelin associated glycoprotein IAGP HPO ORPHA:459056 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO OMIM:620629 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutation:cds:p.L289M (m.4171C>A) RGD PMID:12112111 RGD:8657118 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MYOC myocilin IAGP HPO ORPHA:98977 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) HPO
RGD		 PMID:19112530 ORPHA:1215 ORPHA:98673, RGD:7800706 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the eye 3538
        Abnormal eye morphology 2878
          Abnormal posterior eye segment morphology 1661
            Abnormal fundus morphology 1652
              Abnormal optic nerve morphology 925
                Abnormal optic disc morphology 774
                  Increased cup-to-disc ratio + 13
                  Megalopapilla 1
                  Optic atrophy + 620
                  Optic disc coloboma 30
                  Optic disc drusen 13
                  Optic disc pallor + 244
                  Papilledema 30
                  Pseudopapilledema 2
paths to the root