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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:Ocular anterior segment dysgenesis
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Accession:HP:0007700 term browser browse the term
Definition:Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Comment:In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
Synonyms:exact_synonym: Anterior chamber cleavage defect;   Anterior chamber cleavage disorder;   Anterior chamber malformation;   Anterior chamber mesodermal anomalies;   Anterior segment developmental abnormality;   Anterior segment dysgenesis;   Anterior segment mesencyhmal dysgenesis
 alt_id: HP:0007696;   HP:0007699;   HP:0008040
 xref: SNOMEDCT_US:65075004;   UMLS:C0266525


show annotations for term's descendants           Sort by:
Ocular anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G CMPK1 cytidine/uridine monophosphate kinase 1 IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:28492532 NCBI chr 1:47,333,790...47,378,839
Ensembl chr 1:47,333,790...47,394,866 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis		 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... 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 ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis		 ClinVar PMID:28492532 PMID:28513611 PMID:32499604 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 ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis		 ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 PMID:19708017 More... NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		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 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis		 ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 PMID:19708017 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477 		JBrowse link
G LOC126806590 MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,814,075...4,815,274 JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:11527932 PMID:18852424 PMID:24940937 PMID:25741868 PMID:27243976 More... NCBI chr 2:38,070,924...38,071,068 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP DNA:nonsense mutation:CDS:p.W807X RGD PMID:28384041 RGD:156451372 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Anterior segment ocular dysgenesis ClinVar PMID:24281366 PMID:32499604 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 ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis		 ClinVar PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 More... 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 PXDN peroxidasin IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar
HPO		 PMID:32499604 OMIM:269400 NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852 		JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G STIL STIL centriolar assembly protein IAGP ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:28492532 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		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 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
Aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP HPO ORPHA:2440 NCBI chr10:101,354,048...101,557,313
Ensembl chr10:101,354,033...101,557,321 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO ORPHA:2440 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DLX6 distal-less homeobox 6 IAGP HPO ORPHA:2440 NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040 		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 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 IAGP HPO ORPHA:2440 NCBI chr19:16,355,247...16,472,012
Ensembl chr19:16,355,225...16,472,085 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 IAGP HPO ORPHA:2440 NCBI chr10:101,610,666...101,695,295
Ensembl chr10:101,610,664...101,695,295 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO ORPHA:250923 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 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 GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO OMIM:206700 ORPHA:1065 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LDHD lactate dehydrogenase D IAGP HPO OMIM:245450 NCBI chr16:75,111,864...75,116,780
Ensembl chr16:75,111,860...75,116,780 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Aniridia ClinVar
HPO		 OMIM:106210 OMIM:194072 ORPHA:1065 ORPHA:2334 ORPHA:250923 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 OMIM:180500 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		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 POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEM1 SEM1 26S proteasome subunit IAGP HPO ORPHA:2440 NCBI chr 7:96,481,626...96,709,846
Ensembl chr 7:96,481,626...96,709,880 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:2440 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIM44 tripartite motif containing 44 IAGP HPO OMIM:617142 ORPHA:250923 NCBI chr11:35,662,775...35,818,007
Ensembl chr11:35,662,775...35,818,007 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:2440 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO OMIM:106210 OMIM:194072 ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Anterior segment of eye aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Aplasia/Hypoplasia affecting the anterior segment of the eye term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Aplasia/Hypoplasia of the iris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 BDNF brain derived neurotrophic factor IAGP HPO ORPHA:893 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		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 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 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 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 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 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 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:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		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 FOXC1 forkhead box C1 IAGP HPO ORPHA:782 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		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 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 MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		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 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 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 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 ORPHA:190 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX6 paired box 6 susceptibility IAGP DNA:deletion, snp:cds:p.R38GfsX16, p.S121L
DNA:snp:intron:IVS4+5G>C
DNA:deletion:cds:p.R38PfsX12
DNA:frameshift mutation:cds:p.P418SfsX87
DNA:nonsense mutation:cds:p.R103X
DNA:deletions:cds:c.170-174delTGGGC, c.475delC
DNA:nonsense mutation:cds:p.R240X
DNA:deletion:cds:p.Q297HfsX68
DNA:snp:intron:IVS12+5G>A		 HPO
RGD		 PMID:23734086 PMID:15629294 PMID:20664694 PMID:23734086 PMID:22550392 More... ORPHA:893, RGD:8551856, RGD:8552281, RGD:8551858, RGD:8551856, RGD:8552301, RGD:8552277, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551857 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:782 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		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 RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		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 SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		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 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 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 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 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 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 UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		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 WT1 WT1 transcription factor IAGP HPO ORPHA:893 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Aplasia/Hypoplasia of the lens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		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 XYLT2 xylosyltransferase 2 IAGP HPO ORPHA:85194 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Axenfeld anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP HPO OMIM:601631 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		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 SLC38A8 solute carrier family 38 member 8 IAGP HPO OMIM:609218 NCBI chr16:84,009,667...84,043,372
Ensembl chr16:84,009,667...84,042,795 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		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 CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility IAGP DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N HPO
RGD		 PMID:19597567 OMIM:231300, RGD:7800689 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 OMIM:616538 ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101400 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:236670 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 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		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 GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO OMIM:185300 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP DNA:missense mutations:CDS:p.D1010N, p.C1757Y HPO
RGD		 PMID:32165823 OMIM:251750, RGD:156431215 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO OMIM:618479 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		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 NDP norrin cystine knot growth factor NDP IAGP HPO OMIM:310600 ORPHA:91495 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		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 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 POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 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 OMIM:613150 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		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 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 SH3PXD2B SH3 and PX domains 2B IAGP HPO OMIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		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 TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
Congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Developmental cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCA2 ATP binding cassette subfamily A member 2 IAGP HPO OMIM:618808 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G AGK acylglycerol kinase IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar
HPO		 OMIM:212350 OMIM:614691 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G AGK-DT AGK divergent transcript IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar NCBI chr 7:141,500,140...141,551,344
Ensembl chr 7:141,500,079...141,551,304 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:616603 ORPHA:447753 ORPHA:447757 ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ANKRD34C-AS1 ANKRD34C antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr15:79,191,707...79,283,945
Ensembl chr15:79,123,939...79,283,964 		JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO OMIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO OMIM:617183 OMIM:618810 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 ORPHA:91495 NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113 		JBrowse link
G BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Congenital cataracts		 ClinVar
HPO		 PMID:24728327 PMID:26694549 PMID:28492532 OMIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BEST1 bestrophin 1 IAGP HPO OMIM:193220 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BFSP1 beaded filament structural protein 1 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr20:17,493,905...17,569,220
Ensembl chr20:17,493,905...17,569,220 		JBrowse link
G BFSP2 beaded filament structural protein 2 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:25741868 OMIM:611597 NCBI chr 3:133,400,056...133,475,208
Ensembl chr 3:133,400,056...133,475,222 		JBrowse link
G BFSP2-AS1 BFSP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:133,426,402...133,491,146
Ensembl chr 3:133,429,269...133,455,776 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:606721 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		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 ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:17696175 PMID:20301768 PMID:25741868 OMIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO OMIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CRYAA crystallin alpha A IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:17724170 PMID:17937925 PMID:18587492 PMID:19503744 PMID:22045060 More... OMIM:604219 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805 		JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Developmental cataract
ClinVar Annotator: match by term: Congenital cataracts		 ClinVar
HPO		 PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... OMIM:613763 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CRYBA1 crystallin beta A1 IAGP HPO OMIM:600881 NCBI chr17:29,246,859...29,254,494
Ensembl chr17:29,246,859...29,254,494 		JBrowse link
G CRYBA2 crystallin beta A2 IAGP HPO OMIM:115900 NCBI chr 2:218,990,190...218,993,422
Ensembl chr 2:218,990,189...218,993,422 		JBrowse link
G CRYBA4 crystallin beta A4 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar PMID:25741868 PMID:26694549 PMID:28272538 PMID:28492532 NCBI chr22:26,590,220...26,630,669
Ensembl chr22:26,621,963...26,630,669 		JBrowse link
G CRYBB1 crystallin beta B1 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:25741868 PMID:26694549 PMID:28272538 OMIM:611544 NCBI chr22:26,599,278...26,618,027
Ensembl chr22:26,599,278...26,618,027 		JBrowse link
G CRYBB2 crystallin beta B2 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... OMIM:601547 NCBI chr22:25,211,661...25,231,869
Ensembl chr22:25,212,564...25,231,870 		JBrowse link
G CRYBB3 crystallin beta B3 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:15914629 PMID:26694549 OMIM:609741 NCBI chr22:25,199,858...25,207,359
Ensembl chr22:25,199,858...25,207,359 		JBrowse link
G CRYGA crystallin gamma A IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:28839118 NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589 		JBrowse link
G CRYGB crystallin gamma B IAGP HPO OMIM:615188 NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158 		JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:24281366 PMID:26694549 OMIM:604307 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 ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:25403472 More... OMIM:115700 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO OMIM:604168 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803 		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 EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP HPO OMIM:615683 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO OMIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPHA2 EPH receptor A2 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:26694549 OMIM:116600 NCBI chr 1:16,124,337...16,156,069
Ensembl chr 1:16,124,337...16,156,069 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 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 OMIM:610756 ORPHA:33364 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:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 ORPHA:90322 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:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERO1B endoplasmic reticulum oxidoreductase 1 beta IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr 1:236,215,101...236,281,958
Ensembl chr 1:236,214,681...236,282,019 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:9361030 PMID:15146463 PMID:18220287 PMID:24033266 PMID:24123792 More... NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		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 FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:447753 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		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 FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:10533071 PMID:24033266 PMID:24740214 PMID:25203624 PMID:25741868 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824 		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 GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 OMIM:116700 NCBI chr 6:10,521,351...10,629,368
Ensembl chr 6:10,492,223...10,629,368 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GFER growth factor, augmenter of liver regeneration IAGP HPO OMIM:613076 ORPHA:330054 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar PMID:15208569 PMID:16885921 PMID:19182255 PMID:22843197 PMID:25741868 More... NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Congenital cataracts
ClinVar Annotator: match by term: Developmental cataract		 ClinVar PMID:18334946 PMID:21228318 PMID:23832966 PMID:25003127 PMID:25741868 More... NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO OMIM:616395 ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		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 HSF4 heat shock transcription factor 4 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr16:67,163,761...67,169,941
Ensembl chr16:67,164,681...67,169,945 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO OMIM:610532 ORPHA:85163 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:25741868 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		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 KCNA4 potassium voltage-gated channel subfamily A member 4 IAGP HPO OMIM:618284 NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC100507443 uncharacterized LOC100507443 IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:24281366 More... NCBI chr 2:208,119,129...208,156,762 JBrowse link
G LOC124310607 H3K4me1 hESC enhancers GRCh37_chr9:100174359-100174860 and GRCh37_chr9:100174861-100175360 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar NCBI chr 9:97,411,783...97,413,078 JBrowse link
G LOC126863239 MED14-independent group 3 enhancer GRCh37_chrX:39932994-39934193 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:26694549 NCBI chr  X:40,073,741...40,074,940 JBrowse link
G LOC129996186 ATAC-STARR-seq lymphoblastoid silent region 17057 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr 6:33,788,786...33,789,165 JBrowse link
G LOC129999511 ATAC-STARR-seq lymphoblastoid silent region 18717 IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar NCBI chr 7:141,551,205...141,551,294 JBrowse link
G LOC130004590 ATAC-STARR-seq lymphoblastoid silent region 2752 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr10:102,230,383...102,230,642 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:25741868 OMIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:25741868 OMIM:616509 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:25741868 PMID:26694549 OMIM:601088 ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO OMIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAX MYC associated factor X IAGP HPO OMIM:171300 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MIAT myocardial infarction associated transcript IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:28272538 NCBI chr22:26,646,429...26,676,478
Ensembl chr22:26,646,411...26,676,475 		JBrowse link
G MIP major intrinsic protein of lens fiber IAGP ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Developmental cataract		 ClinVar PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 PMID:29770612 NCBI chr12:56,449,502...56,456,553
Ensembl chr12:56,449,502...56,469,166 		JBrowse link
G MIR184 microRNA 184 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871 		JBrowse link
G MIR204 microRNA 204 IAGP HPO OMIM:616722 NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 IAGP HPO OMIM:616834 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO OMIM:540000 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 OMIM:540000 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:540000 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:540000 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 HPO OMIM:540000 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO OMIM:540000 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:540000 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP HPO OMIM:540000 NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO OMIM:540000 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO OMIM:540000 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 OMIM:540000 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO OMIM:540000 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:540000 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 OMIM:540000 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 OMIM:540000 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 OMIM:540000 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:91495 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NECTIN3 nectin cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:111,071,816...111,194,170
Ensembl chr 3:111,070,071...111,275,563 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NHS NHS actin remodeling regulator IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:26694549 OMIM:302350 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO OMIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ClinVar Annotator: match by term: Congenital cataracts
ClinVar Annotator: match by term: Developmental cataract		 ClinVar
HPO		 PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 PMID:25741868 PMID:26694549 PMID:29178648 OMIM:604229 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar
HPO		 OMIM:614920 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:616716 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr  X:119,236,285...119,244,466
Ensembl chr  X:119,236,245...119,244,466 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:601815 ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP ClinVar Annotator: match by term: Cataract, congenital ClinVar
HPO		 OMIM:618440 ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PITX3 paired like homeodomain 3 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:25741868 OMIM:610623 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:613155 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar
HPO		 PMID:32500975 OMIM:619354 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G PXDN peroxidasin IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:600118 OMIM:619420 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 ClinVar Annotator: match by term: Developmental cataract ClinVar
HPO		 PMID:25741868 OMIM:212720 OMIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:171300 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO OMIM:618761 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		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 SIL1 SIL1 nucleotide exchange factor IAGP HPO OMIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SIPA1L3 signal induced proliferation associated 1 like 3 IAGP HPO OMIM:616851 NCBI chr19:37,907,208...38,208,369
Ensembl chr19:37,907,208...38,208,369 		JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 IAGP ClinVar Annotator: match by term: Congenital cataracts ClinVar PMID:25741868 PMID:26694549 NCBI chr10:89,430,299...89,556,704
Ensembl chr10:89,430,299...89,556,641 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO OMIM:614482 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO OMIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO OMIM:615663 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TDRD7 tudor domain containing 7 IAGP ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 9:97,412,096...97,496,125
Ensembl chr 9:97,412,096...97,496,125 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TKT transketolase IAGP HPO OMIM:617044 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO OMIM:171300 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO OMIM:171300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:26694549 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G VIM-AS1 VIM antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:26694549 NCBI chr10:17,214,239...17,229,985
Ensembl chr10:17,214,239...17,230,018 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP HPO OMIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Developmental cataract ClinVar PMID:25741868 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Developmental glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Developmental glaucoma HPO
ClinVar		 PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... OMIM:617315 ORPHA:708 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 ClinVar Annotator: match by term: Developmental glaucoma ClinVar PMID:28492532 PMID:34923728 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Developmental glaucoma ClinVar
HPO		 PMID:32832252 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 ORPHA:83461 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Developmental glaucoma ClinVar PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO OMIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Developmental glaucoma
ClinVar Annotator: match by term: Infantile glaucoma		 ClinVar PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		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 PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		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 SH3PXD2B SH3 and PX domains 2B IAGP HPO OMIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Hypoplasia of the iris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 FOXC1 forkhead box C1 IAGP associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) HPO
RGD		 PMID:18498376 OMIM:602482, RGD:12904045 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO OMIM:600092 ORPHA:1422 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO OMIM:206700 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO OMIM:609049 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO OMIM:222448 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MIR184 microRNA 184 IAGP HPO OMIM:614303 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871 		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 PAX6 paired box 6 IAGP HPO OMIM:106210 OMIM:604229 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		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 PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Underdeveloped iris
ClinVar Annotator: match by term: Hypoplasia of the iris		 ClinVar
HPO		 PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 OMIM:180500 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		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 SOX10 SRY-box transcription factor 10 IAGP HPO OMIM:611584 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		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 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
Hypoplastic iris stroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO OMIM:601631 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO OMIM:193510 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:193500 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:2334 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 OMIM:137600 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Keratoglobus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO OMIM:614170 ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO OMIM:229200 ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Late onset congenital glaucoma 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 OMIM:231300 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
Lens coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
Microcoria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFAP glial fibrillary acidic protein IAGP HPO OMIM:203450 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO OMIM:609049 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G RBP4 retinol binding protein 4 IAGP HPO OMIM:616428 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Microphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO OMIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:129600 OMIM:154700 OMIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Microspherophakia
DNA:frameshift mutation:CDS:p.H1816PfsX28
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856)		 ClinVar
HPO
RGD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... OMIM:251750 OMIM:614819, RGD:156451653, RGD:243049250 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G RRAGC Ras related GTP binding C IAGP HPO OMIM:620609 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G CDH2 cadherin 2 IAGP HPO OMIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		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 COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		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 FKRP fukutin related protein IAGP HPO OMIM:236670 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 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO OMIM:601631 ORPHA:250923 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 OMIM:610256 ORPHA:708 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 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO OMIM:610202 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		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 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO OMIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G PAX6 paired box 6 IAGP HPO OMIM:120200 OMIM:604229 ORPHA:250923 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 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 POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 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 OMIM:613150 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 ORPHA:494344 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G TRIM44 tripartite motif containing 44 IAGP HPO ORPHA:250923 NCBI chr11:35,662,775...35,818,007
Ensembl chr11:35,662,775...35,818,007 		JBrowse link
G WDR37 WD repeat domain 37 IAGP HPO OMIM:618652 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
Primary congenital glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar
HPO		 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 PMID:11184479 More... OMIM:600975 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC110599580 CYP1B1 promoter IAGP ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar NCBI chr 2:38,076,132...38,077,840 JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar PMID:9463332 PMID:10655546 PMID:17591938 PMID:18852424 PMID:19234632 More... NCBI chr 2:38,070,924...38,071,068 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Primary congenital glaucoma
DNA:frameshift mutations, nonsense mutations:CDS:multiple
DNA:nonsense mutation:CDS:p.W807X
DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55		 ClinVar
HPO
RGD		 PMID:25741868 PMID:19361779 PMID:28384041 PMID:19656777 OMIM:600975 OMIM:613086, RGD:156451378, RGD:156451372, RGD:156431212 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO OMIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP HPO OMIM:600975 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
Rieger anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950 		JBrowse link
G CHST5 carbohydrate sulfotransferase 5 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr16:75,528,530...75,536,108
Ensembl chr16:75,528,530...75,536,108 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO OMIM:601631 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO OMIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO OMIM:609049 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 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 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO OMIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar
HPO		 PMID:25741868 OMIM:180500 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:1347096 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the eye 3538
        Abnormal eye morphology 2878
          Abnormal anterior eye segment morphology 1441
            Ocular anterior segment dysgenesis 380
              Aplasia/Hypoplasia affecting the anterior segment of the eye + 146
              Axenfeld anomaly 4
              Developmental cataract 186
              Developmental glaucoma + 79
              Keratoglobus 4
              Microcoria 4
              Peters anomaly 24
paths to the root