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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:microphthalmia
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Accession:DOID:10629 term browser browse the term
Definition:An eye disease where one or both eyeballs are abnormally small. (DO)
Synonyms:exact_synonym: anophthalmia/microphthalmia;   microphthalmos
 narrow_synonym: BILATERAL MICROPHTHALMOS;   COMPLEX MICROPHTHALMIA;   UNILATERAL MICROPHTHALMOS;   simple microphthalmos
 primary_id: MESH:D008850
 xref: EFO:0005569;   GARD:12085;   ICD10CM:Q11.2;   ICD9CM:743.1;   NCI:C98989;   OMIM:PS251600
For additional species annotation, visit the Alliance of Genome Resources.


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 ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 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 ARHGAP35 Rho GTPase activating protein 35 IAGP ClinVar Annotator: match by term: Bilateral microphthalmos | 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 ARHGAP6 Rho GTPase activating protein 6 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmos		 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CRYBA1 crystallin beta A1 ISO RGD PMID:15721615 RGD:126925760 NCBI chr17:29,246,859...29,254,494
Ensembl chr17:29,246,859...29,254,494 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:28492532 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:35123994 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		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 GJA8 gap junction protein alpha 8 ISO
IAGP		 DNA:missense mutation:cds:p.L7Q(rat)
ClinVar Annotator: match by term: Microphthalmia		 ClinVar
RGD		 PMID:25741868 PMID:18470322 RGD:2293186 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G HCCS holocytochrome c synthase IAGP
ISS		 microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972		 MouseDO
RGD		 PMID:17033964 RGD:1600417 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HMX1 H6 family homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839 		JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar NCBI chr11:31,810,888...31,827,240 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 DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G MFRP membrane frizzled-related protein IAGP DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MID1 midline 1 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MIP major intrinsic protein of lens fiber IAGP ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr12:56,449,502...56,456,553
Ensembl chr12:56,449,502...56,469,166 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:22715480 PMID:25741868 PMID:28492532 PMID:33296094 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PAX6 paired box 6 IMP
IAGP		 human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmia		 ClinVar
RGD		 PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... RGD:8552240 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PITX3 paired like homeodomain 3 ISO
EXP		 DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16565358 PMID:25347445 RGD:11535071 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512 		JBrowse link
G PRR12 proline rich 12 IAGP ClinVar Annotator: match by term: complex microphthalmia ClinVar PMID:33314030 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PRSS56 serine protease 56 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21532570 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 ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25567908 PMID:25741868 PMID:26467025 PMID:26802149 PMID:26893459 More... NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RARB retinoic acid receptor beta IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Unilateral microphthalmos
ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Microphthalmia		 ClinVar PMID:25741868 PMID:25910211 PMID:29178648 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G SHH sonic hedgehog signaling molecule EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmos		 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 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 STAU2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chr 8:73,420,369...73,747,480
Ensembl chr 8:73,420,369...73,747,708 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia		 CTD
ClinVar		 PMID:18316031 PMID:25741868 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISS MouseDO NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,904 		JBrowse link
G VAX1 ventral anterior homeobox 1 IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: Microphthalmia
ClinVar Annotator: match by term: Microphthalmos		 ClinVar PMID:15257456 PMID:20414678 PMID:21976963 PMID:23028343 PMID:24033328 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130062084 ATAC-STARR-seq lymphoblastoid silent region 9247 IAGP ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:2,656,249...2,656,428 JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP
EXP		 ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHS NHS actin remodeling regulator IAGP
EXP		 ClinVar Annotator: match by term: Cataract 40
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G Z93022.1 novel transcript IAGP ClinVar Annotator: match by term: Cataract 40 ClinVar PMID:19414485 NCBI chr  X:17,528,435...17,587,160
Ensembl chr  X:17,528,435...17,587,160 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 IAGP
EXP		 ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		 CTD
ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP
ISS		 ClinVar Annotator: match by term: Frontonasal dysplasia 3
OMIM:613456		 ClinVar
MouseDO
OMIM		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G LOC124629423 Sharpr-MPRA regulatory region 79 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 3 ClinVar PMID:24467814 PMID:25741868 PMID:28492532 NCBI chr12:85,280,311...85,280,605 JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOMM7 translocase of outer mitochondrial membrane 7 IAGP ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP
EXP		 ClinVar Annotator: match by term: Heart and brain malformation syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:27018474 PMID:28492532 PMID:31390136 PMID:32412169 More... NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 More... NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
isolated microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VRK1 VRK serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G VSX2 visual system homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 2
ClinVar Annotator: match by term: VSX2-related condition
ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:16199547 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK2 alpha kinase 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:58,481,247...58,629,091
Ensembl chr18:58,481,247...58,629,091 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CPLX4 complexin 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,295,402...59,318,649
Ensembl chr18:59,275,156...59,318,649 		JBrowse link
G FECH ferrochelatase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G GRP gastrin releasing peptide IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774 		JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265 		JBrowse link
G LOC130062601 ATAC-STARR-seq lymphoblastoid silent region 9492 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:18783408 PMID:28492532 NCBI chr18:59,269,250...59,269,409 JBrowse link
G MALT1 MALT1 paracaspase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MC4R melanocortin 4 receptor IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775 		JBrowse link
G MIR122 microRNA 122 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,899,996...59,904,305
Ensembl chr18:59,899,996...59,904,305 		JBrowse link
G RAX retina and anterior neural fold homeobox IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14662654 PMID:18783408 PMID:19158959 PMID:19935664 PMID:20494911 More... NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086 		JBrowse link
G SEC11C SEC11 homolog C, signal peptidase complex subunit IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:59,139,884...59,158,832
Ensembl chr18:59,139,866...59,158,832 		JBrowse link
G ZNF532 zinc finger protein 532 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:58,862,924...58,986,480
Ensembl chr18:58,862,600...58,986,480 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF6 growth differentiation factor 6 IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653 		JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA4 apolipoprotein A4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOC3 apolipoprotein C3 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,336,413...120,489,937
Ensembl chr11:120,336,413...120,489,937 		JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278 		JBrowse link
G BACE1 beta-secretase 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259 		JBrowse link
G BACE1-AS BACE1 antisense RNA IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578 		JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen		 ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525 		JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486 		JBrowse link
G FXYD6-FXYD2 FXYD6-FXYD2 readthrough IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,511,748...120,988,906
Ensembl chr11:120,511,746...120,988,906 		JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465 		JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,092 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MFRP membrane frizzled-related protein IAGP
EXP		 DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,185,475...119,190,213
Ensembl chr11:119,185,457...119,190,223 		JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016 		JBrowse link
G OAF out at first homolog IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,211,032...120,230,334
Ensembl chr11:120,211,032...120,230,334 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,144,287...117,178,173
Ensembl chr11:117,144,284...117,176,894 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G POU2F3 POU class 2 homeobox 3 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,236,638...120,319,945
Ensembl chr11:120,236,640...120,319,945 		JBrowse link
G RNF214 ring finger protein 214 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,232,671...117,286,454
Ensembl chr11:117,232,625...117,286,454 		JBrowse link
G RNF26 ring finger protein 26 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,334,527...119,337,309
Ensembl chr11:119,334,527...119,337,309 		JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691 		JBrowse link
G SC5D sterol-C5-desaturase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,178,743...117,197,442
Ensembl chr11:117,178,736...117,197,445 		JBrowse link
G SIK3 SIK family kinase 3 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SORL1 sortilin related receptor 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G TAGLN transgelin IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464 		JBrowse link
G TBCEL tubulin folding cofactor E like IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:121,024,102...121,090,776
Ensembl chr11:121,024,072...121,090,776 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G THY1 Thy-1 cell surface antigen IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985 		JBrowse link
G TLCD5 TLC domain containing 5 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,325,299...120,333,686
Ensembl chr11:120,325,296...120,333,686 		JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,531,192...118,547,286
Ensembl chr11:118,531,041...118,547,280 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:117,900,641...117,929,402
Ensembl chr11:117,900,641...117,929,459 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,077,078...118,125,505
Ensembl chr11:118,077,012...118,121,890 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690 		JBrowse link
G TRIM29 tripartite motif containing 29 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:120,111,286...120,138,113
Ensembl chr11:120,111,286...120,185,529 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559 		JBrowse link
G USP2 ubiquitin specific peptidase 2 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,355,215...119,381,690
Ensembl chr11:119,355,215...119,381,711 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G PRSS56 serine protease 56 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 6
ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
OMIM:613517
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:15823920 PMID:17576681 PMID:19526372 PMID:21397065 More... NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23312594 PMID:23591992 PMID:23646827 PMID:24777706 PMID:25741868 More... 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: Isolated microphthalmia 8 ClinVar PMID:23312594 PMID:23591992 PMID:23646827 PMID:24777706 PMID:25741868 More... NCBI chr15:100,892,343...100,919,283
Ensembl chr15:100,892,343...100,919,391 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G SIX6 SIX homeobox 6 IAGP
EXP		 ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
Isolated Microphthalmia with Cataract 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYBA4 crystallin beta A4 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr22:26,590,220...26,630,669
Ensembl chr22:26,621,963...26,630,669 		JBrowse link
Isolated Microphthalmia with Coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP DNA:missense mutation:CDS:p.G204K (human) RGD PMID:21901792 RGD:155631284 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX2 visual system homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11341888 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHH sonic hedgehog signaling molecule IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:12709790 PMID:15292211 More... NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19864492 PMID:24281366 PMID:25741868 PMID:28492532 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
EXP		 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
Isolated Microphthalmia with Coloboma 7 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
EXP		 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2998465 PMID:15142123 PMID:19504436 PMID:22226084 PMID:23180570 More... NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G HCCS holocytochrome c synthase IAGP
EXP		 ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HCCS-DT HCCS divergent transcript IAGP ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 ClinVar PMID:16059943 PMID:17033964 NCBI chr  X:10,847,543...11,111,138
Ensembl chr  X:10,847,578...11,111,220 		JBrowse link
G LOC130067938 ATAC-STARR-seq lymphoblastoid active region 29410 IAGP ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 ClinVar PMID:16059943 PMID:17033964 NCBI chr  X:11,111,361...11,111,490 JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1		 CTD
ClinVar		 PMID:25741868 PMID:25772934 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 IAGP
EXP		 ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr16:77,282,128...77,435,034
Ensembl chr16:77,247,813...77,435,034 		JBrowse link
G LOC126862407 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:77322970-77324169 IAGP ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus ClinVar PMID:25741868 NCBI chr16:77,289,073...77,290,272 JBrowse link
G LOC126862408 BRD4-independent group 4 enhancer GRCh37_chr16:77341323-77342522 IAGP ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus ClinVar PMID:25741868 NCBI chr16:77,307,426...77,308,625 JBrowse link
G LOC132090415 Neanderthal introgressed variant-containing enhancer experimental_45289 IAGP ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus ClinVar PMID:25741868 NCBI chr16:77,302,444...77,302,613 JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
Microphthalmia/Coloboma 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25910211 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
Microphthalmia/Coloboma 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD5 frizzled class receptor 5 IAGP ClinVar Annotator: match by term: Microphthalmia/coloboma 11 OMIM
ClinVar		 PMID:25741868 PMID:26908622 PMID:32737437 PMID:33633439 NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906 		JBrowse link
Microphthalmia/Coloboma 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX6 paired box 6 IAGP OMIM NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
Microphthalmia/Coloboma 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM3 teneurin transmembrane protein 3 IAGP
EXP		 ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 More... NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024 		JBrowse link
nanophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Nanophthalmia 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 MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Nanophthalmia 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...119,346,705 		JBrowse link
G MYRF myelin regulatory factor IAGP DNA:mutations:cds: RGD PMID:31048900 RGD:197810045 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G MFRP membrane frizzled-related protein IAGP
EXP		 ClinVar Annotator: match by term: Nanophthalmos 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM98 transmembrane protein 98 IAGP
EXP		 ClinVar Annotator: match by term: Nanophthalmos 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:24852644 PMID:26392740 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP
EXP		 ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OMIM
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
syndromic microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar NCBI chr14:53,953,395...53,958,769 JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP
EXP		 DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G LOC126863239 MED14-independent group 3 enhancer GRCh37_chrX:39932994-39934193 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr  X:40,073,741...40,074,940 JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 More... NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VAX1 ventral anterior homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia, syndromic 11
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NGLY1 N-glycanase 1 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G RARB retinoic acid receptor beta IAGP
EXP		 ClinVar Annotator: match by term: MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS | ClinVar Annotator: match by term: Microphthalmia, syndromic 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14973393 PMID:16199547 PMID:17506106 PMID:24075189 PMID:24651605 More... NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G TOP2B DNA topoisomerase II beta IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr 3:25,597,905...25,664,907
Ensembl chr 3:25,597,978...25,664,909 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB3 high mobility group box 3 IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr  X:150,980,507...150,990,771
Ensembl chr  X:150,980,509...150,990,771 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRBA LPS responsive beige-like anchor protein IAGP ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MAB21L2 mab-21 like 2 IAGP
EXP		 ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G BCOR BCL6 corepressor IAGP
ISS
EXP		 ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
OMIM:300166
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 More... RGD:1600504 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G LOC126863239 MED14-independent group 3 enhancer GRCh37_chrX:39932994-39934193 IAGP ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome		 ClinVar PMID:15004558 PMID:15770227 PMID:19367324 PMID:24728327 PMID:25620158 More... NCBI chr  X:40,073,741...40,074,940 JBrowse link
G LOC130068113 ATAC-STARR-seq lymphoblastoid silent region 20740 IAGP ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:15004558 NCBI chr  X:40,013,756...40,013,845 JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC108734.3 novel transcript IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,707,589...180,870,178
Ensembl chr 3:180,707,589...180,871,005 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC39-AS1 CCDC39 antisense RNA 1 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,680,081...180,700,452
Ensembl chr 3:180,680,084...180,700,449 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753 		JBrowse link
G LINC01206 long intergenic non-protein coding RNA 1206 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,952,364...182,010,678
Ensembl chr 3:181,952,343...182,035,644 		JBrowse link
G LINC02053 long intergenic non-protein coding RNA 2053 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,414,173...180,422,501
Ensembl chr 3:180,413,008...180,476,778 		JBrowse link
G LOC102724604 uncharacterized LOC102724604 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,421,163...181,442,486 JBrowse link
G LOC108281177 SOX2 5' regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome		 ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:181,707,848...181,712,914 JBrowse link
G LOC108281178 SRR2 enhancer downstream of SOX2 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:23701296 PMID:24804704 PMID:28492532 NCBI chr 3:181,715,429...181,716,409 JBrowse link
G LOC110120606 VISTA enhancer hs192 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,055,851...181,058,014 JBrowse link
G LOC110120632 VISTA enhancer hs258 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,718,639...180,720,170 JBrowse link
G LOC110120734 VISTA enhancer hs655 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,744,037...180,745,086 JBrowse link
G LOC114004376 Sharpr-MPRA regulatory region 15084 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,316,501...181,316,795 JBrowse link
G LOC123256953 Sharpr-MPRA regulatory region 7561 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,558,801...179,559,095 JBrowse link
G LOC123256954 Sharpr-MPRA regulatory region 7910 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,912,301...180,912,595 JBrowse link
G LOC123256955 Sharpr-MPRA regulatory region 859 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:23701296 PMID:24804704 PMID:28492532 NCBI chr 3:181,860,181...181,860,475 JBrowse link
G LOC126806881 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:181010183-181011382 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,292,395...181,293,594 JBrowse link
G LOC126806882 BRD4-independent group 4 enhancer GRCh37_chr3:181077271-181078470 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,359,483...181,360,682 JBrowse link
G LOC126806883 MED14-independent group 3 enhancer GRCh37_chr3:181252985-181254184 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,535,197...181,536,396 JBrowse link
G LOC129937982 ATAC-STARR-seq lymphoblastoid silent region 14920 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937983 ATAC-STARR-seq lymphoblastoid silent region 14921 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937984 ATAC-STARR-seq lymphoblastoid silent region 14922 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937985 ATAC-STARR-seq lymphoblastoid active region 20871 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937986 ATAC-STARR-seq lymphoblastoid active region 20872 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937987 ATAC-STARR-seq lymphoblastoid active region 20873 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937988 ATAC-STARR-seq lymphoblastoid silent region 14924 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937989 ATAC-STARR-seq lymphoblastoid silent region 14925 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937990 ATAC-STARR-seq lymphoblastoid active region 20874 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937991 ATAC-STARR-seq lymphoblastoid active region 20875 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937992 ATAC-STARR-seq lymphoblastoid silent region 14926 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937993 ATAC-STARR-seq lymphoblastoid active region 20876 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937994 ATAC-STARR-seq lymphoblastoid active region 20877 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937995 ATAC-STARR-seq lymphoblastoid silent region 14927 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937996 ATAC-STARR-seq lymphoblastoid active region 20879 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937997 ATAC-STARR-seq lymphoblastoid silent region 14928 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G MRPL47 mitochondrial ribosomal protein L47 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,588,285...179,604,646
Ensembl chr 3:179,588,285...179,604,649 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,604,794...179,627,647
Ensembl chr 3:179,604,690...179,627,647 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,794,958...180,036,937
Ensembl chr 3:179,794,958...180,037,053 		JBrowse link
G PEX5L-AS2 PEX5L antisense RNA 2 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,898,194...179,921,899
Ensembl chr 3:179,898,199...179,921,895 		JBrowse link
G SIX6 SIX homeobox 6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP
EXP		 ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... 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: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome		 ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,602,163...180,618,329
Ensembl chr 3:180,602,163...180,617,828 		JBrowse link
G TTC14-DT TTC14 divergent transcript IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,480,865...180,602,113 JBrowse link
G USP13 ubiquitin specific peptidase 13 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,653,040...179,789,401
Ensembl chr 3:179,653,032...179,804,366 		JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G ARR3 arrestin 3 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr  X:70,268,334...70,281,883
Ensembl chr  X:70,268,305...70,281,840 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CEP83 centrosomal protein 83 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr12:94,265,662...94,460,454
Ensembl chr12:94,306,449...94,459,988 		JBrowse link
G CHRD chordin IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:184,380,054...184,390,739
Ensembl chr 3:184,380,054...184,390,736 		JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G EFHD1 EF-hand domain family member D1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:232,606,057...232,682,776
Ensembl chr 2:232,606,057...232,682,776 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:28492532 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 PMID:28492532 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 PMID:31308072 More... NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr11:31,810,888...31,827,240 JBrowse link
G LOC122861314 Sharpr-MPRA regulatory region 9991 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:232,633,779...232,634,073 JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:27,453,190...27,454,389 JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MYO1C myosin IC IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr17:1,464,186...1,492,686
Ensembl chr17:1,464,186...1,492,686 		JBrowse link
G NDST2 N-deacetylase and N-sulfotransferase 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:73,801,916...73,811,820
Ensembl chr10:73,801,911...73,811,798 		JBrowse link
G NDST2-ZSWIM8-AS1 NDST2-ZSWIM8-AS1 readthrough IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:73,796,514...73,811,820 JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH4 notch receptor 4 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Syndromic microphthalmia type 5
ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: Syndromic microphthalmia type 5
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 More... NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PFKP phosphofructokinase, platelet IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:3,067,548...3,136,805
Ensembl chr10:3,066,333...3,137,718 		JBrowse link
G PLXNC1 plexin C1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr12:94,148,577...94,307,675
Ensembl chr12:94,148,577...94,307,675 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:25741868 More... NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAX retina and anterior neural fold homeobox IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G SALL3 spalt like transcription factor 3 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr16:29,871,159...29,899,550
Ensembl chr16:29,871,159...29,899,550 		JBrowse link
G SFRP2 secreted frizzled related protein 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:153,780,591...153,789,083
Ensembl chr 4:153,780,591...153,789,083 		JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SOX14 SRY-box transcription factor 14 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:137,764,315...137,766,334
Ensembl chr 3:137,764,315...137,766,334 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G SULF1 sulfatase 1 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 8:69,466,781...69,660,912
Ensembl chr 8:69,466,624...69,660,915 		JBrowse link
G TAMALIN trafficking regulator and scaffold protein tamalin IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr12:52,006,946...52,015,889
Ensembl chr12:52,006,946...52,015,889 		JBrowse link
G TSHZ2 teashirt zinc finger homeobox 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr20:52,972,358...53,495,330
Ensembl chr20:52,972,358...53,495,330 		JBrowse link
G VAX2 ventral anterior homeobox 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:70,900,576...70,933,446
Ensembl chr 2:70,900,576...70,965,373 		JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:20414678 PMID:21976963 PMID:24033328 PMID:26893459 PMID:28492532 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
G WNT7A Wnt family member 7A IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G WNT7B Wnt family member 7B IAGP ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CDKN3 cyclin dependent kinase inhibitor 3 IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,397,007...54,420,218
Ensembl chr14:54,396,849...54,420,218 		JBrowse link
G CGRRF1 cell growth regulator with ring finger domain 1 IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,509,906...54,539,292
Ensembl chr14:54,509,812...54,539,292 		JBrowse link
G CNIH1 cornichon family member 1 IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,423,561...54,441,374
Ensembl chr14:54,423,561...54,441,391 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GMFB glia maturation factor beta IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,474,485...54,488,980
Ensembl chr14:54,474,484...54,489,025 		JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:25741868 NCBI chr14:53,953,395...53,958,769 JBrowse link
G SAMD4A sterile alpha motif domain containing 4A IAGP ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:54,565,316...54,793,315
Ensembl chr14:54,566,117...54,793,315 		JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 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: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr15:100,892,343...100,919,283
Ensembl chr15:100,892,343...100,919,391 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP
EXP		 ClinVar Annotator: match by term: Matthew-Wood syndrome
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 More... RGD:155631273 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G WNT7B Wnt family member 7B IAGP ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 PMID:35790350 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      eye disease 4940
        microphthalmia 263
          Adams Nance Syndrome 0
          Arhinia, Choanal Atresia, and Microphthalmia 2
          Aughton Syndrome 0
          Behrens Baumann Dust Syndrome 0
          COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
          Duker Weiss Siber syndrome 0
          GARG-MISHRA PROGEROID SYNDROME 1
          GOMBO Syndrome 0
          Ghose Sachdev Kumar Syndrome 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Hittner Hirsch Kreh Syndrome 4
          Holoprosencephaly 10 1
          Kaplowitz Bodurtha syndrome 0
          Macrosomia with Lethal Microphthalmia 0
          Microcephaly Microphthalmos Blindness 0
          Microcornea Corectopia Macular Hypoplasia 0
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 4
          Microgastria Limb Reduction Defect 0
          Microphthalmia Associated with Colobomatous Cyst 0
          Microphthalmia and Mental Deficiency 0
          Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
          Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
          Microphthalmia, Cataracts, and Iris Abnormalities 2
          Oculodentodigital Dysplasia, Autosomal Recessive 2
          Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
          Thomas Jewett Raines Syndrome 0
          cataract 40 2
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
          frontonasal dysplasia 3 2
          isolated microphthalmia + 108
          nanophthalmos + 5
          optic disc anomalies with retinal and/or macular dystrophy 2
          syndromic microphthalmia + 123
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9728
            eye disease 4940
              Eye Abnormalities 1014
                microphthalmia 263
                  Adams Nance Syndrome 0
                  Arhinia, Choanal Atresia, and Microphthalmia 2
                  Aughton Syndrome 0
                  Behrens Baumann Dust Syndrome 0
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Duker Weiss Siber syndrome 0
                  GARG-MISHRA PROGEROID SYNDROME 1
                  GOMBO Syndrome 0
                  Ghose Sachdev Kumar Syndrome 0
                  HEART AND BRAIN MALFORMATION SYNDROME 1
                  Hittner Hirsch Kreh Syndrome 4
                  Holoprosencephaly 10 1
                  Kaplowitz Bodurtha syndrome 0
                  Macrosomia with Lethal Microphthalmia 0
                  Microcephaly Microphthalmos Blindness 0
                  Microcornea Corectopia Macular Hypoplasia 0
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 4
                  Microgastria Limb Reduction Defect 0
                  Microphthalmia Associated with Colobomatous Cyst 0
                  Microphthalmia and Mental Deficiency 0
                  Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
                  Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
                  Oculodentodigital Dysplasia, Autosomal Recessive 2
                  Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
                  Thomas Jewett Raines Syndrome 0
                  cataract 40 2
                  chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                  frontonasal dysplasia 3 2
                  isolated microphthalmia + 108
                  nanophthalmos + 5
                  optic disc anomalies with retinal and/or macular dystrophy 2
                  syndromic microphthalmia + 123
paths to the root