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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:Microphthalmia
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Accession:HP:0000568 term browser browse the term
Definition:A developmental anomaly characterized by abnormal smallness of one or both eyes.
Synonyms:exact_synonym: Abnormally small eyeball;   Abnormally small globe of eye;   Microphthalmos
 broad_synonym: Decreased size of eyeball;   Decreased size of globe of eye
 related_synonym: Nanophthalmos
 alt_id: HP:0007996
 xref: Fyler:4877;   MESH:D008850;   SNOMEDCT_US:204108000;   SNOMEDCT_US:61142002;   UMLS:C0026010;   UMLS:C4280625;   UMLS:C4280808


show annotations for term's descendants           Sort by:
Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO OMIM:614497 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ACTB actin beta IAGP HPO OMIM:243310 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO OMIM:614583 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar
HPO		 PMID:25741868 OMIM:615113 ORPHA:35612 NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,877,714...100,916,626 		JBrowse link
G ALDH1A3-AS1 ALDH1A3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr15:100,892,343...100,919,283
Ensembl chr15:100,892,343...100,919,391 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO OMIM:613456 ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO OMIM:613451 ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP HPO ORPHA:1942 NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO OMIM:100300 ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO OMIM:308350 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO OMIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G ATN1 atrophin 1 IAGP HPO OMIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		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 OMIM:615181 ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP DNA:missense mutation:exon:254C>T (p.P85L) HPO
RGD		 PMID:15004558 OMIM:300166 OMIM:309800 ORPHA:2712 ORPHA:568, RGD:1600504 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 ORPHA:35612 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		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 BRCA1 BRCA1 DNA repair associated IAGP HPO OMIM:617883 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 OMIM:609054 ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		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 C12orf57 chromosome 12 open reading frame 57 IAGP HPO OMIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		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 CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		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 CHD2 chromodomain helicase DNA binding protein 2 IAGP HPO ORPHA:1942 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		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 CILK1 ciliogenesis associated kinase 1 IAGP ClinVar Annotator: match by term: Decreased size of globe of eye ClinVar PMID:25741868 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		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 COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX14 cytochrome c oxidase assembly factor COX14 IAGP HPO OMIM:619053 NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:300887 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 CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:35612 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:614643 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 OMIM:604219 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805 		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 CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:891 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO OMIM:616538 ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO OMIM:274270 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 ORPHA:35173 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO OMIM:615297 ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:278730 OMIM:601675 OMIM:610756 ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO OMIM:610651 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:84 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 OMIM:278780 OMIM:616570 ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 OMIM:214150 ORPHA:1466 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:127000 OMIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FANCA FA complementation group A IAGP HPO OMIM:227650 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:3412 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 OMIM:227645 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 OMIM:227646 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 OMIM:600901 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 OMIM:603467 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 OMIM:614082 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 OMIM:609053 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 OMIM:614083 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 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 FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:613001 ORPHA:2117 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 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:236670 OMIM:613153 ORPHA:370959 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 OMIM:253800 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO OMIM:153400 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		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 FOXL2 forkhead box L2 IAGP HPO OMIM:110100 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO ORPHA:2052 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 HPO OMIM:248450 ORPHA:2717 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO OMIM:123570 OMIM:617666 ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:891 ORPHA:91495 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO OMIM:613704 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:613094 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 OMIM:257850 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO OMIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar
HPO		 PMID:25741868 OMIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO OMIM:616395 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		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 HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HMGB3 high mobility group box 3 IAGP HPO OMIM:300915 NCBI chr  X:150,980,507...150,990,771
Ensembl chr  X:150,980,509...150,990,771 		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 HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO OMIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO OMIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO OMIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP HPO OMIM:613730 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G 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 ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO OMIM:617914 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO OMIM:619981 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		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 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 LMBRD2 LMBR1 domain containing 2 IAGP HPO OMIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LOC108281177 SOX2 5' regulatory region IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:181,707,848...181,712,914 JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO OMIM:259770 ORPHA:2788 ORPHA:891 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		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 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 MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO OMIM:616734 ORPHA:2505 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:85284 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:300895 ORPHA:2728 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO OMIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar
HPO		 PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... OMIM:609549 OMIM:611040 ORPHA:35612 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO OMIM:617306 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO OMIM:234050 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G 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 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:309800 ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO OMIM:305390 OMIM:310600 ORPHA:649 ORPHA:891 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 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 NEXMIF neurite extension and migration factor IAGP HPO ORPHA:1942 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO OMIM:302350 ORPHA:627 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		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 HPO OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO OMIM:610125 ORPHA:35612 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO OMIM:610832 ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PAX6 paired box 6 susceptibility IAGP DNA:deletion:cds:p.Q297HfsX68 HPO
RGD		 PMID:22171157 OMIM:120200 OMIM:604229, RGD:8551859 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 PDE6D phosphodiesterase 6D IAGP HPO OMIM:615665 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		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 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:602501 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PITX3 paired like homeodomain 3 IAGP HPO OMIM:610623 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO OMIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:253280 ORPHA:370959 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 OMIM:614830 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 OMIM:615249 ORPHA:370959 ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 OMIM:613155 ORPHA:370959 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 OMIM:613150 ORPHA:370959 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRIM1 DNA primase subunit 1 IAGP HPO OMIM:620005 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		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 PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar
HPO		 PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... OMIM:613517 ORPHA:35612 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 OMIM:610828 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G 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 RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:600118 ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Microphthalmos HPO
ClinVar		 PMID:25741868 OMIM:212720 OMIM:614225 ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO OMIM:617244 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 RARB retinoic acid receptor beta IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar
HPO		 PMID:25741868 OMIM:615524 ORPHA:2470 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RAX retina and anterior neural fold homeobox IAGP HPO OMIM:611038 ORPHA:35612 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:1587 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Microphthalmos
ClinVar Annotator: match by term: Microphthalmia		 HPO
ClinVar		 PMID:25741868 PMID:29178648 OMIM:616428 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		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 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 RHOA ras homolog family member A IAGP HPO OMIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G 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 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 associated with Meckel Syndrome, Type 5;DNA:mutations:exons: HPO
RGD		 PMID:17558409 OMIM:611561 ORPHA:564, RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTTN rotatin IAGP HPO OMIM:614833 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		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 SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:1942 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:404440 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO OMIM:147250 OMIM:611638 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO OMIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 OMIM:212550 ORPHA:35612 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 OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:1942 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		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 SLC6A1 solute carrier family 6 member 1 IAGP HPO ORPHA:1942 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		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 SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		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 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO OMIM:603457 ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:601707 ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar
HPO		 PMID:25741868 OMIM:206900 ORPHA:35612 ORPHA:77298 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO OMIM:600251 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO OMIM:612379 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP DNA:missense mutation:CDS:p.G204K
ClinVar Annotator: match by term: Microphthalmia		 HPO
ClinVar
RGD		 PMID:25741868 PMID:21901792 ORPHA:2470, RGD:155631284 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO OMIM:616947 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:1942 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO OMIM:615663 ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO OMIM:241410 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO OMIM:602342 ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP HPO ORPHA:1617 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		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 OMIM:613885 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 TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Decreased size of globe of eye ClinVar
HPO		 PMID:25741868 OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP HPO OMIM:618805 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		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 OMIM:603194 OMIM:608091 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 OMIM:614424 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G 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 TMEM98 transmembrane protein 98 IAGP HPO OMIM:615972 ORPHA:35612 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO OMIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO OMIM:619185 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		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 TSPAN12 tetraspanin 12 IAGP HPO ORPHA:891 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402 		JBrowse link
G TUBB tubulin beta class I IAGP HPO OMIM:156610 OMIM:615771 ORPHA:2505 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO OMIM:616335 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO OMIM:251270 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO OMIM:619879 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 UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G 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
G VAX1 ventral anterior homeobox 1 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar
HPO		 PMID:25741868 OMIM:614402 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO OMIM:619135 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: Decreased size of globe of eye
ClinVar Annotator: match by term: Microphthalmos
ClinVar Annotator: match by term: Microphthalmia		 ClinVar
HPO		 PMID:15257456 PMID:20414678 PMID:21976963 PMID:23028343 PMID:24033328 More... OMIM:610092 OMIM:610093 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		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
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 WNT3 Wnt family member 3 IAGP HPO OMIM:273395 ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT7B Wnt family member 7B IAGP HPO ORPHA:2470 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162 		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
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
G YAP1 Yes1 associated transcriptional regulator IAGP HPO OMIM:120433 ORPHA:1473 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO ORPHA:891 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Bilateral microphthalmos 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 ARHGAP35 Rho GTPase activating protein 35 IAGP ClinVar Annotator: match by term: Bilateral microphthalmos ClinVar PMID:25741868 PMID:36450800 NCBI chr19:46,860,997...47,005,077
Ensembl chr19:46,860,997...47,005,077 		JBrowse link
G CAPN15 calpain 15 IAGP HPO OMIM:619318 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636 		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 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA: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 FAM111A FAM111 trypsin like peptidase A IAGP HPO ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		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 GDF3 growth differentiation factor 3 IAGP HPO OMIM:613703 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:613703 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Bilateral microphthalmos ClinVar PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		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 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 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 PTCH1 patched 1 IAGP HPO OMIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Bilateral microphthalmos ClinVar PMID:25741868 PMID:25910211 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		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 RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO OMIM:611638 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO OMIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		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 TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO OMIM:154500 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		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
Unilateral microphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP35 Rho GTPase activating protein 35 IAGP ClinVar Annotator: match by term: Unilateral microphthalmos ClinVar PMID:25741868 PMID:36450800 NCBI chr19:46,860,997...47,005,077
Ensembl chr19:46,860,997...47,005,077 		JBrowse link
G CAPN15 calpain 15 IAGP HPO OMIM:619318 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G GPRASP2 G protein-coupled receptor associated sorting protein 2 IAGP HPO OMIM:301018 NCBI chr  X:102,712,448...102,717,733
Ensembl chr  X:102,712,445...102,717,733 		JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Unilateral microphthalmos ClinVar PMID:25741868 PMID:29178648 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO OMIM:615085 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
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
          Abnormality of globe size 323
            Microphthalmia 286
              Bilateral microphthalmos 28
              Unilateral microphthalmos 6
paths to the root