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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:Corneal opacity
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Accession:HP:0007957 term browser browse the term
Definition:A reduction of corneal clarity.
Synonyms:exact_synonym: Corneal clouding;   Corneal opacities;   Reduction of corneal clarity;   Scarring or clouding of the cornea of the eye
 alt_id: HP:0007844;   HP:0007883;   HP:0008502
 xref: MESH:D003318;   SNOMEDCT_US:413921009;   SNOMEDCT_US:64634000;   SNOMEDCT_US:95735008;   UMLS:C0010038;   UMLS:C0521719


show annotations for term's descendants           Sort by:
Corneal opacity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO ORPHA:31150 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 IAGP HPO ORPHA:98974 NCBI chr15:86,079,620...87,031,476
Ensembl chr15:86,079,871...87,049,169 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:616603 ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		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 ATOH7 atonal bHLH transcription factor 7 IAGP HPO OMIM:221900 ORPHA:91495 NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		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 BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:90654 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO OMIM:175780 ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COL8A2 collagen type VIII alpha 2 chain IAGP HPO OMIM:609140 ORPHA:98973 ORPHA:98974 NCBI chr 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO OMIM:248340 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 IAGP HPO OMIM:617319 NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRYAA crystallin alpha A IAGP HPO ORPHA:1377 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805 		JBrowse link
G CRYBA4 crystallin beta A4 IAGP HPO ORPHA:1377 NCBI chr22:26,590,220...26,630,669
Ensembl chr22:26,621,963...26,630,669 		JBrowse link
G CRYBB1 crystallin beta B1 IAGP HPO ORPHA:1377 NCBI chr22:26,599,278...26,618,027
Ensembl chr22:26,599,278...26,618,027 		JBrowse link
G CRYBB2 crystallin beta B2 IAGP HPO ORPHA:1377 NCBI chr22:25,211,661...25,231,869
Ensembl chr22:25,212,564...25,231,870 		JBrowse link
G CRYGC crystallin gamma C IAGP HPO ORPHA:1377 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828 		JBrowse link
G CRYGD crystallin gamma D IAGP HPO ORPHA:1377 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524 		JBrowse link
G CTSA cathepsin A IAGP HPO ORPHA:351 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP DNA:snp:cds:p.G61E HPO
RGD		 PMID:15621878 OMIM:617315, RGD:7800682 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		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 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		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 EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		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 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:236670 OMIM:613153 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 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO OMIM:610256 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:91495 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395 		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 GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO ORPHA:1377 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		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:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP HPO ORPHA:98973 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		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 IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 OMIM:607015 OMIM:607016 ORPHA:93473 ORPHA:93474 ORPHA:93476 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO ORPHA:1980 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KERA keratocan IAGP HPO OMIM:217300 NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO OMIM:152950 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO ORPHA:79292 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2788 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP DNA:missense mutation:CDS:p.C1757Y HPO
RGD		 PMID:32165823 OMIM:613086, RGD:156431215 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO OMIM:610202 ORPHA:1377 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		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 MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Corneal opacity HPO
ClinVar		 PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 OMIM:252650 ORPHA:578 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO OMIM:277950 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 OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP HPO ORPHA:1980 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO OMIM:310600 ORPHA:649 ORPHA:91495 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:812 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 NEUROG1 neurogenin 1 IAGP HPO OMIM:620469 NCBI chr 5:135,534,282...135,535,964
Ensembl chr 5:135,534,282...135,535,964 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO OMIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OVOL2 ovo like zinc finger 2 IAGP HPO OMIM:122000 ORPHA:98973 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188 		JBrowse link
G PAX6 paired box 6 IAGP DNA:snp:exon:IVS10-2A>T HPO
RGD		 PMID:7668281 OMIM:120200, RGD:8551884 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 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:1980 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:601812 ORPHA:1980 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO 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: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: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: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: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: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 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: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 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: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: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: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 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP HPO OMIM:618961 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO 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: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: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: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 ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PXDN peroxidasin IAGP HPO OMIM:269400 NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1234 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		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 SLC20A2 solute carrier family 20 member 2 IAGP HPO ORPHA:1980 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP HPO ORPHA:1490 ORPHA:293603 ORPHA:98974 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IAGP HPO OMIM:602400 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO OMIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TAT tyrosine aminotransferase IAGP HPO ORPHA:28378 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO OMIM:613267 ORPHA:98974 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO OMIM:608470 ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO OMIM:614594 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO ORPHA:98973 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO ORPHA:1980 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		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 ZEB1 zinc finger E-box binding homeobox 1 IAGP HPO ORPHA:98973 ORPHA:98974 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Band keratopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		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 GNAS GNAS complex locus IAGP HPO ORPHA:79443 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO OMIM:186580 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G OVOL2 ovo like zinc finger 2 IAGP HPO OMIM:122000 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO OMIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85410 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		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
Central corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98960 ORPHA:98962 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Central opacification of the cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP HPO ORPHA:708 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO ORPHA:708 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:708 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:708 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO ORPHA:708 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 IAGP HPO ORPHA:98957 NCBI chr 1:58,575,433...58,577,252
Ensembl chr 1:58,575,433...58,577,252 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98962 ORPHA:98963 ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Central posterior corneal opacity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Corneal arcus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO OMIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:219150 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO OMIM:618463 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 IAGP HPO OMIM:143890 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631 		JBrowse link
G APOB apolipoprotein B IAGP HPO OMIM:144010 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CHRDL1 chordin like 1 IAGP HPO OMIM:309300 NCBI chr  X:110,673,856...110,795,817
Ensembl chr  X:110,673,856...110,795,819 		JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP HPO OMIM:143890 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G GHR growth hormone receptor IAGP HPO OMIM:143890 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G KERA keratocan IAGP HPO OMIM:217300 NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO OMIM:245900 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO OMIM:143890 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LIPC lipase C, hepatic type IAGP HPO OMIM:614025 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO OMIM:603776 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852 		JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP HPO OMIM:143890 NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
Corneal crystals term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST6 carbohydrate sulfotransferase 6 IAGP HPO ORPHA:98969 NCBI chr16:75,472,042...75,495,441
Ensembl chr16:75,472,052...75,495,445 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP DNA:deletions, snps, missense mutation:multiple HPO
RGD		 PMID:10625078 OMIM:219750 OMIM:219800 OMIM:219900 ORPHA:411629 ORPHA:411634 ORPHA:411641, RGD:12910937 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP HPO OMIM:210370 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98962 ORPHA:98963 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Corneal scarring term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:293381 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO OMIM:226600 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DST dystonin IAGP HPO OMIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO OMIM:148210 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO OMIM:226600 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO OMIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO OMIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		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 NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO OMIM:256800 ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301220 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G PRDM12 PR/SET domain 12 IAGP HPO OMIM:616488 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:212550 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO OMIM:602082 ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G VSX1 visual system homeobox 1 IAGP DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A RGD PMID:18626569 RGD:8657032 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G ZFHX2 zinc finger homeobox 2 IAGP HPO OMIM:147430 NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Crystalline corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP HPO ORPHA:41751 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463 		JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 IAGP HPO OMIM:121800 NCBI chr 1:11,273,198...11,299,574
Ensembl chr 1:11,273,198...11,296,049 		JBrowse link
Kayser-Fleischer ring term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta IAGP ClinVar Annotator: match by term: Fleischer-Struempell ring ClinVar
HPO		 PMID:25741868 OMIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G VSX1 visual system homeobox 1 IAGP DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A
DNA:missense mutations:cds:multiple		 RGD PMID:18626569 PMID:15623752 RGD:8657032, RGD:8657034 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
Nodular corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBI transforming growth factor beta induced IAGP HPO OMIM:121900 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Opacification of the corneal epithelium term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO OMIM:270200 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
Opacification of the corneal stroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO OMIM:205400 ORPHA:425 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G AIRE autoimmune regulator IAGP HPO ORPHA:3453 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO ORPHA:425 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO OMIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G CHST6 carbohydrate sulfotransferase 6 IAGP HPO ORPHA:98969 NCBI chr16:75,472,042...75,495,441
Ensembl chr16:75,472,052...75,495,445 		JBrowse link
G CTSA cathepsin A IAGP HPO OMIM:256540 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP HPO ORPHA:708 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		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 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO 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 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 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: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 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 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FLG filaggrin IAGP HPO ORPHA:461 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO ORPHA:708 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:708 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:231005 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230650 OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 OMIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO OMIM:136120 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		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 NAGA alpha-N-acetylgalactosaminidase IAGP HPO ORPHA:79280 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO OMIM:310600 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:148200 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO OMIM:256800 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G OCLN occludin IAGP HPO OMIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G PAX6 paired box 6 IAGP HPO OMIM:106210 OMIM:148190 ORPHA:2334 ORPHA:708 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		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 PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO ORPHA:708 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PITX3 paired like homeodomain 3 IAGP HPO OMIM:107250 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:253280 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		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 RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP HPO OMIM:217400 OMIM:217700 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO OMIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO OMIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G STS steroid sulfatase IAGP HPO OMIM:308100 ORPHA:461 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ClinVar Annotator: match by term: Opacification of the corneal stroma ClinVar PMID:2010091 PMID:10802654 PMID:11505339 PMID:25741868 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO OMIM:608470 ORPHA:98960 ORPHA:98963 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO OMIM:313400 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO OMIM:614594 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184095 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VSX2 visual system homeobox 2 IAGP HPO OMIM:610093 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO OMIM:106210 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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
Peripheral opacification of the cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
Punctate opacification of the cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST6 carbohydrate sulfotransferase 6 IAGP HPO OMIM:217800 ORPHA:98969 NCBI chr16:75,472,042...75,495,441
Ensembl chr16:75,472,052...75,495,445 		JBrowse link
G KRT12 keratin 12 IAGP HPO OMIM:122100 NCBI chr17:40,861,303...40,867,223
Ensembl chr17:40,861,303...40,867,223 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
Sclerocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		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 BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:607932 ORPHA:139471 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CENPF centromere protein F IAGP HPO OMIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		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 COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:309801 ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		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 CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO 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 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 FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO OMIM:610256 ORPHA:83461 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO OMIM:309801 ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HMX1 H6 family homeobox 1 IAGP HPO OMIM:612109 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839 		JBrowse link
G KERA keratocan IAGP HPO OMIM:217300 NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G MAB21L2 mab-21 like 2 IAGP HPO OMIM:615877 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		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 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 NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO OMIM:300952 OMIM:309801 ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		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 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 PAX6 paired box 6 IAGP HPO OMIM:604229 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		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 PRDM5 PR/SET domain 5 IAGP HPO OMIM:614170 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G PXDN peroxidasin IAGP HPO OMIM:269400 NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852 		JBrowse link
G RAX retina and anterior neural fold homeobox IAGP HPO OMIM:611038 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086 		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 SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO ORPHA:2095 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO OMIM:206900 ORPHA:77298 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		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 TENM3 teneurin transmembrane protein 3 IAGP HPO OMIM:615145 NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024 		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 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 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 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		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 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 VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Subepithelial corneal opacities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:293381 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 IAGP HPO ORPHA:98957 NCBI chr 1:58,575,433...58,577,252
Ensembl chr 1:58,575,433...58,577,252 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98960 ORPHA:98962 ORPHA:98963 ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the eye 3514
        Abnormal eye morphology 2858
          Abnormal anterior eye segment morphology 1432
            Abnormal cornea morphology 769
              Corneal opacity 281
                Corneal scarring 22
                Kayser-Fleischer ring 2
                Opacification of the corneal epithelium + 4
                Opacification of the corneal stroma + 94
                Sclerocornea 49
paths to the root