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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: COMPLEX MICROPHTHALMIA;   simple microphthalmos
 primary_id: MESH:D008850
 xref: 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35123994 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
G Hccs holocytochrome c synthase ISO
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:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr14:75,361,207...75,364,993
Ensembl chr14:75,361,225...75,364,993 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		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:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr 7:643,502...654,573
Ensembl chr 7:647,315...654,400 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Pax6 paired box 6 ISO 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 chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16565358 PMID:25347445 RGD:11535071 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: complex microphthalmia ClinVar PMID:33314030 NCBI chr 1:95,510,015...95,534,002
Ensembl chr 1:95,509,931...95,533,652 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Ralbp1 ralA binding protein 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 9:105,456,425...105,492,711
Ensembl chr 9:105,456,425...105,492,707 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 IMP RGD PMID:22940085 RGD:10043154 NCBI chr 5:2,840,801...3,084,451
Ensembl chr 5:2,840,765...3,084,929 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISS MouseDO NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:15257456 PMID:21976963 PMID:24033328 PMID:25741868 PMID:26893459 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia		 CTD
ClinVar
OMIM		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
cataract 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 40 OMIM
ClinVar		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness OMIM
ClinVar		 PMID:27889061 PMID:30311386 PMID:34599368 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome OMIM
ClinVar		 PMID:25741868 PMID:27018474 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:17661825 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 OMIM
ClinVar		 PMID:14662654 PMID:18783408 PMID:19158959 PMID:20494911 PMID:25741868 More... NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 4 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO 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 chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)		 OMIM
ClinVar
RGD		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 OMIM
ClinVar		 PMID:15823920 PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 More... NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 7 OMIM
ClinVar		 PMID:19864492 PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 8 OMIM
ClinVar		 PMID:23312594 PMID:23591992 PMID:24777706 PMID:25741868 PMID:26995144 More... NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus		 CTD
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
Isolated Microphthalmia with Cataract 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 ClinVar PMID:26694549 PMID:28492532 NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 OMIM
ClinVar		 PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25606400 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 OMIM
ClinVar		 PMID:19504436 PMID:22226084 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 OMIM
ClinVar		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 More... NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 OMIM
ClinVar		 PMID:16059943 PMID:17033964 PMID:25741868 NCBI chr  X:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO 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:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus OMIM
ClinVar		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
nanophthalmos term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISS
ISO		 OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972
ClinVar Annotator: match by term: Nanophthalmia		 MouseDO
ClinVar		 PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Tmem98 transmembrane protein 98 ISS OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 MouseDO NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos 2 OMIM
ClinVar		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar		 PMID:24852644 PMID:26392740 NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO 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 chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO 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 chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
syndromic microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:28492532 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO 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:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 OMIM
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 OMIM
ClinVar		 PMID:22095910 PMID:28492532 NCBI chr 1:258,324,571...258,342,396
Ensembl chr 1:258,326,276...258,330,192 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 OMIM
ClinVar		 PMID:17506106 PMID:24075189 PMID:25741868 PMID:27120018 PMID:28492532 NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chr  X:149,296,309...149,301,294
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome OMIM
ClinVar		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SOX2-Related Eye Disorders		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: SOX2-Related Eye Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome | ClinVar Annotator: match by term: SOX2-Related Eye Disorders OMIM
ClinVar		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Myo1c myosin 1C ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:60,498,374...60,520,752
Ensembl chr10:60,498,280...60,520,752 		JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr15:3,563,358...3,573,801
Ensembl chr15:3,563,358...3,573,801 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO 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 OMIM
ClinVar		 PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 More... NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr17:63,729,743...63,794,021
Ensembl chr17:63,729,780...63,794,018 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 7:29,390,038...29,543,985
Ensembl chr 7:29,390,048...29,543,779 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:26467025 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Sfrp2 secreted frizzled-related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:100,421,982...100,423,918
Ensembl chr 8:100,421,982...100,423,918 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:6,362,896...6,526,174
Ensembl chr 5:6,362,911...6,525,584 		JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 7:132,338,900...132,359,519
Ensembl chr 7:132,338,900...132,346,666 		JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:158,405,469...158,666,915
Ensembl chr 3:158,405,423...158,850,128 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:116,195,576...116,219,597
Ensembl chr 4:116,195,528...116,219,594 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21976963 PMID:24033328 PMID:26893459 PMID:28492532 PMID:30181649 NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies OMIM
ClinVar		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cdkn3 cyclin-dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945 		JBrowse link
G Cgrrf1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,088,564...20,109,042
Ensembl chr15:20,088,571...20,109,037 		JBrowse link
G Cnih1 cornichon family AMPA receptor auxiliary protein 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,037,885...20,049,857
Ensembl chr15:20,037,885...20,049,761 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gmfb glia maturation factor, beta ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,069,923...20,081,005
Ensembl chr15:20,067,263...20,080,331 		JBrowse link
G Samd4a sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380 		JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379 		JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 More... NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        microphthalmia 116
          Adams Nance Syndrome 0
          Arhinia, Choanal Atresia, and Microphthalmia 1
          Aughton Syndrome 0
          Behrens Baumann Dust Syndrome 0
          COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
          Duker Weiss Siber syndrome 0
          GOMBO Syndrome 0
          Ghose Sachdev Kumar Syndrome 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Hittner Hirsch Kreh Syndrome 3
          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 1
          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 1
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
          frontonasal dysplasia 3 1
          isolated microphthalmia + 17
          nanophthalmos + 5
          optic disc anomalies with retinal and/or macular dystrophy 2
          syndromic microphthalmia + 64
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            Eye Abnormalities 458
              microphthalmia 116
                Adams Nance Syndrome 0
                Arhinia, Choanal Atresia, and Microphthalmia 1
                Aughton Syndrome 0
                Behrens Baumann Dust Syndrome 0
                COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                Duker Weiss Siber syndrome 0
                GOMBO Syndrome 0
                Ghose Sachdev Kumar Syndrome 0
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Hittner Hirsch Kreh Syndrome 3
                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 1
                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 1
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                frontonasal dysplasia 3 1
                isolated microphthalmia + 17
                nanophthalmos + 5
                optic disc anomalies with retinal and/or macular dystrophy 2
                syndromic microphthalmia + 64
paths to the root