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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:coloboma
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Accession:DOID:12270 term browser browse the term
Definition:An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)
Synonyms:exact_synonym: COI;   agenesis of macula;   coloboma of eye;   coloboma of iris, choroid, and retina;   colobomas;   congenital ocular coloboma;   ocular coloboma;   uveoretinal coloboma
 narrow_synonym: CHORIORETINAL COLOBOMA;   ocular coloboma, autosomal dominant;   ocular coloboma, autosomal recessive
 primary_id: MESH:D003103
 alt_id: OMIM:120300;   OMIM:216820
 xref: GARD:1433;   ICD10CM:Q13.0;   NCI:C98877;   ORDO:194;   ORDO:98945
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
coloboma 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 ISO ClinVar Annotator: match by term: ocular coloboma ClinVar PMID:2998465 PMID:15142123 PMID:23180570 PMID:24281366 PMID:25741868 More... NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G BFSP1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr24:5,432,098...5,500,278
Ensembl chr24:5,439,512...5,499,307 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr 6:39,996,587...40,014,798
Ensembl chr 6:39,996,575...40,010,807 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:28492532 NCBI chr11:73,548,003...73,693,044
Ensembl chr11:73,548,038...73,690,199 		JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr 5:8,439,606...8,536,088
Ensembl chr 5:8,446,346...8,533,426 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Coloboma of eye ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11558822 PMID:11774072 More... NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Coloboma of eye ClinVar PMID:26660953 NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808 		JBrowse link
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 PMID:32737437 NCBI chr37:16,123,788...16,126,634
Ensembl chr37:16,123,798...16,125,567 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G MAB21L2 mab-21 like 2 ISO DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) RGD PMID:25719200 RGD:11553846 NCBI chr15:48,538,912...48,541,651
Ensembl chr15:48,539,955...48,541,034 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO OMIM:120200 | OMIM:120300 | OMIM:216820 MouseDO NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma | ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant ClinVar PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:10234503 More...
G RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:29178648 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive OMIM
ClinVar		 PMID:24412933 PMID:25741868 NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547 		JBrowse link
G SLBP stem-loop histone mRNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Coloboma of eye ClinVar PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr28:4,343,773...4,430,653
Ensembl chr28:4,345,546...4,421,234 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Chorioretinal coloboma ClinVar PMID:25741868 NCBI chr34:14,853,000...14,855,153 JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 More... NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Coloboma ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:24462371 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:24368176 PMID:24621584 PMID:25326635 PMID:25741868 More... NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... NCBI chr 5:39,601,288...39,687,125
Ensembl chr 5:39,601,291...39,686,908 		JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: COACH syndrome ClinVar PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 NCBI chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472 		JBrowse link
G TMEM67 transmembrane protein 67 ISO DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19058225 PMID:19574260 RGD:11535944 RGD:11535946 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 More... NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 More... NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH syndrome 1 OMIM
ClinVar		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 More... NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 2 OMIM
ClinVar		 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 More... NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547 		JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 3 OMIM
ClinVar		 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 More... NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284 		JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic nerve ClinVar PMID:31256877 NCBI chr26:4,964,038...4,993,932
Ensembl chr26:4,964,088...4,993,930 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve ClinVar PMID:25741868 NCBI chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve OMIM
ClinVar		 PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 More...
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 ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGBP1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:54,558,515...54,612,029
Ensembl chr  X:54,547,446...54,613,171 		JBrowse link
Hereditary Macular Coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		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 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 More... NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		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 chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696 		JBrowse link
IRIS COLOBOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:25741868 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:25741868
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:25741868 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:20232449 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26729329 More... NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		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 ISO DNA:missense mutation:CDS:p.G204K (human) RGD PMID:21901792 RGD:155631284 NCBI chr30:37,331,834...37,359,449
Ensembl chr30:37,331,832...37,353,529 		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 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 OMIM
ClinVar		 PMID:11341888 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		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 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:12709790 PMID:15292211 More... NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		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 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484 		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 chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		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 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 OMIM
ClinVar		 PMID:2998465 PMID:15142123 PMID:19504436 PMID:22226084 PMID:23180570 More... NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRD5A3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr13:47,627,854...47,643,116
Ensembl chr13:47,627,913...47,642,566 		JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome OMIM
ClinVar		 PMID:9536098 PMID:11332973 PMID:17352387 PMID:17576681 PMID:19732862 More... NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		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 chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		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 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		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 ISO
IAGP		 ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar
OMIA		 PMID:25741868 PMID:25910211 PMID:29847795 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		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 ISO ClinVar Annotator: match by term: Microphthalmia/coloboma 11 OMIM
ClinVar		 PMID:25741868 PMID:26908622 PMID:32737437 PMID:33633439 NCBI chr37:16,123,788...16,126,634
Ensembl chr37:16,123,798...16,125,567 		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 ISO OMIM
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 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 chr16:47,440,673...47,883,311
Ensembl chr16:47,441,348...48,044,322
Ensembl chr16:47,441,348...48,044,322 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr37:14,867,344...14,897,552
Ensembl chr37:14,871,575...14,894,047 		JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,253,646...13,277,997
Ensembl chr28:13,258,765...13,267,608 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome OMIM
ClinVar		 PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR204 microRNA mir-204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar		 PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr 1:86,818,494...86,818,553
Ensembl chr 1:86,818,489...86,818,556 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract ClinVar PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr 1:86,525,054...87,023,561
Ensembl chr 1:86,242,487...87,017,292 		JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FFAR4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 More... NCBI chr28:7,801,713...7,820,048
Ensembl chr28:7,801,713...7,820,048 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome OMIM
ClinVar		 PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 More... NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		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 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chr15:48,273,866...48,996,546
Ensembl chr15:48,274,881...48,995,697 		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:25741913 PMID:32860008 More... NCBI chr15:48,538,912...48,541,651
Ensembl chr15:48,539,955...48,541,034 		JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:36,844,292...36,882,274
Ensembl chr27:36,844,572...36,883,887 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,380,244...38,388,502
Ensembl chr27:38,380,363...38,388,496 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,934,946...37,947,579
Ensembl chr27:37,935,004...37,947,563 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575 		JBrowse link
G C27H12orf57 chromosome 27 C12orf57 homolog ISO ClinVar Annotator: match by term: Temtamy syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
Ensembl chr27:38,101,786...38,127,910 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,172,717...38,174,963
Ensembl chr27:38,172,988...38,176,548 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958 		JBrowse link
G CLEC4A C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,493,740...37,510,276 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,879,047...37,913,317
Ensembl chr27:37,879,269...37,913,281 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,301,608...38,313,801
Ensembl chr27:38,307,316...38,313,166 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,114,192...37,196,434 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,069,089...38,075,577
Ensembl chr27:38,068,231...38,076,300 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,412,148...37,430,861
Ensembl chr27:37,411,358...37,428,887 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,195,805...38,201,581
Ensembl chr27:38,196,031...38,199,570 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,454,397...38,467,815
Ensembl chr27:38,454,465...38,467,502 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,371,656...38,379,251
Ensembl chr27:38,371,766...38,379,029 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,260,673...38,266,771
Ensembl chr27:38,260,674...38,265,819 		JBrowse link
G LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 6:24,616,607...24,639,441
Ensembl chr 6:24,616,610...24,639,255 		JBrowse link
G LOC611536 C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,520,289...37,559,920
Ensembl chr27:37,551,064...37,558,847 		JBrowse link
G LOC611538 C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,561,445...37,568,652
Ensembl chr27:37,563,038...37,568,463 		JBrowse link
G LOC611565 antigen WC1.1-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,777,592...37,809,738 JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,389,803...38,402,412 JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,028,438...38,068,854
Ensembl chr27:38,028,120...38,068,502 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,128,954...38,144,481
Ensembl chr27:38,129,203...38,134,676 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,598,725...38,605,829
Ensembl chr27:38,599,268...38,605,780 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,028,518...37,042,657
Ensembl chr27:37,028,037...37,040,592 		JBrowse link
G MIR200C microRNA mir-200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,284,495...38,289,125
Ensembl chr27:38,284,534...38,288,851 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,497,499...38,499,089
Ensembl chr27:38,497,499...38,499,067 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,262,558...37,266,449 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,225,807...37,229,457 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,475,145...38,497,818
Ensembl chr27:38,475,155...38,496,312 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,460,545...37,472,512
Ensembl chr27:37,460,607...37,507,052 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,441,259...38,453,946
Ensembl chr27:38,441,690...38,453,824 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,182,642...38,195,173
Ensembl chr27:38,182,856...38,194,902 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,075,769...38,080,440
Ensembl chr27:38,075,652...38,080,109 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,339,720...38,342,900
Ensembl chr27:38,341,011...38,343,572 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,268,296...38,284,921 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,908,056...37,911,805
Ensembl chr27:37,908,067...37,911,516 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:36,924,323...37,092,351
Ensembl chr27:36,931,987...36,993,355 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,134,855...38,154,520
Ensembl chr27:38,151,906...38,154,529 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,526,968...38,534,585
Ensembl chr27:38,526,528...38,535,937 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,158,850...38,172,689
Ensembl chr27:38,158,834...38,172,071 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,518,978...38,526,361
Ensembl chr27:38,518,974...38,559,455 		JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,350,050...38,369,338
Ensembl chr27:38,349,803...38,369,341 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      eye disease 3363
        Eye Abnormalities 774
          coloboma 120
            Alsing Syndrome 0
            Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
            Arima Syndrome 0
            Baraitser Rodeck Garner syndrome 0
            Baraitser-Winter syndrome + 2
            Biemond Syndrome II 0
            Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
            CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
            CHIME syndrome 1
            COACH syndrome + 5
            COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
            Calloso-Genital Dysplasia 0
            Coloboma of Alar-Nasal Cartilages with Telecanthus 0
            Coloboma of Macula and Skeletal Anomalies 0
            Coloboma of Macula with Type B Brachydactyly 0
            Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
            Hereditary Macular Coloboma 1
            Hittner Hirsch Kreh Syndrome 4
            Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
            Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
            IRIS COLOBOMA 4
            Isolated Microphthalmia with Coloboma + 10
            Kahrizi syndrome 1
            Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
            Marles Greenberg Persaud Syndrome 1
            Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
            Microphthalmia Associated with Colobomatous Cyst 0
            Microphthalmia and Mental Deficiency 0
            Microphthalmia, Cataracts, and Iris Abnormalities 2
            Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
            Nasopalpebral Lipoma Coloboma Syndrome 1
            Otodental Dysplasia 0
            Pfeiffer Mayer Syndrome 0
            RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
            Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
            Temtamy syndrome 63
            Yim Ebbin Syndrome 0
            coloboma of optic nerve 3
            corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
            renal coloboma syndrome 3
            syndromic microphthalmia 14 2
            uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            eye disease 3363
              Eye Abnormalities 774
                coloboma 120
                  Alsing Syndrome 0
                  Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
                  Arima Syndrome 0
                  Baraitser Rodeck Garner syndrome 0
                  Baraitser-Winter syndrome + 2
                  Biemond Syndrome II 0
                  Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
                  CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
                  CHIME syndrome 1
                  COACH syndrome + 5
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Calloso-Genital Dysplasia 0
                  Coloboma of Alar-Nasal Cartilages with Telecanthus 0
                  Coloboma of Macula and Skeletal Anomalies 0
                  Coloboma of Macula with Type B Brachydactyly 0
                  Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
                  Hereditary Macular Coloboma 1
                  Hittner Hirsch Kreh Syndrome 4
                  Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                  Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                  IRIS COLOBOMA 4
                  Isolated Microphthalmia with Coloboma + 10
                  Kahrizi syndrome 1
                  Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                  Marles Greenberg Persaud Syndrome 1
                  Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
                  Microphthalmia Associated with Colobomatous Cyst 0
                  Microphthalmia and Mental Deficiency 0
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
                  Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
                  Nasopalpebral Lipoma Coloboma Syndrome 1
                  Otodental Dysplasia 0
                  Pfeiffer Mayer Syndrome 0
                  RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
                  Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
                  Temtamy syndrome 63
                  Yim Ebbin Syndrome 0
                  coloboma of optic nerve 3
                  corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
                  renal coloboma syndrome 3
                  syndromic microphthalmia 14 2
                  uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root