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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 chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G BFSP1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr17:25,933,743...25,966,940
Ensembl chr17:25,933,900...25,967,005 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr 3:41,190,626...41,208,657
Ensembl chr 3:41,190,830...41,208,653 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:28492532 NCBI chr 1:260,465,809...260,648,070
Ensembl chr 1:260,466,942...260,648,161 		JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585 		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 chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Coloboma of eye ClinVar PMID:26660953 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927 		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 chr15:110,913,990...110,921,388
Ensembl chr15:110,914,009...110,921,353 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		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 chr 8:78,385,176...78,388,008
Ensembl chr 8:78,385,764...78,386,843 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO OMIM:120200 | OMIM:120300 | OMIM:216820 MouseDO NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,823,308...111,913,969 		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... NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:29178648 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		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 chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376 		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 chr14:101,273,977...101,368,350
Ensembl chr14:101,273,996...101,368,132 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Chorioretinal coloboma ClinVar PMID:25741868 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...818,216 		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 chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		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 chr10:68,416,058...68,529,662
Ensembl chr10:68,427,192...68,535,143 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:24462371 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		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 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		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 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		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 chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		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:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		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 chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829 		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 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468 		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:10,361,403...10,415,502 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 chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		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 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		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 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		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 chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		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 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		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 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		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 chr14:28,206,152...28,242,436
Ensembl chr14:28,211,579...28,242,435 		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 chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077 		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... NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility 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 chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		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:56,173,773...56,206,121 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 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		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 chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		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 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		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 chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072 		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 chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:25741868 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Iris coloboma ClinVar PMID:25741868 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,612 		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 chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		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 chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,011...59,347,266 		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 7:97,532,021...97,551,072
Ensembl chr 7:97,531,860...97,552,033 		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 chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		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 chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		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 4:40,473,015...40,491,142
Ensembl chr 4:40,472,935...40,490,033 		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 chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100525350 polyprenol reductase 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 chr 8:42,024,352...42,049,209 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 chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952 		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 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		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 7:97,532,021...97,551,072
Ensembl chr 7:97,531,860...97,552,033 		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 ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		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 chr15:110,913,990...110,921,388
Ensembl chr15:110,914,009...110,921,353 		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 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
Microphthalmia/Coloboma 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM3 teneurin transmembrane protein 3 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 chr15:41,818,190...44,401,747
Ensembl chr15:43,540,375...44,399,711 		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 chr15:109,563,445...109,593,858
Ensembl chr15:109,578,473...109,589,813 		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 chr14:111,636,317...111,654,659
Ensembl chr14:111,636,376...111,650,318 		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 chr14:111,626,827...111,633,548
Ensembl chr14:111,626,097...111,633,564 		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 chr14:111,822,334...111,914,950
Ensembl chr14:111,823,308...111,913,969 		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 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602 		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 1:223,833,263...224,682,424
Ensembl chr 1:223,836,213...224,680,389 		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... Ensembl chr14:105,011,942...105,037,498 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 chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		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 chr 8:77,970,087...78,680,307
Ensembl chr 8:77,970,558...78,680,250 		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 chr 8:78,385,176...78,388,008
Ensembl chr 8:78,385,764...78,386,843 		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 chr 5:62,603,260...62,648,170
Ensembl chr 5:62,609,408...62,648,400 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847 		JBrowse link
G ACSM4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 3:25,296,202...25,327,054
Ensembl chr 3:25,296,206...25,327,054 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,088,778...63,098,750 JBrowse link
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Temtamy syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD163L1 CD163 molecule-like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,541...63,864,269 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,219,229...63,228,566 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,572,062...63,612,177
Ensembl chr 5:63,572,065...63,599,525 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,970,543...63,977,470
Ensembl chr 5:63,957,064...63,977,424 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,861,492...62,868,131 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,061,978...63,087,689
Ensembl chr 5:63,061,978...63,085,037 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,885,710...63,891,436
Ensembl chr 5:63,885,715...63,891,219 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,115,695...64,129,832
Ensembl chr 5:64,116,150...64,129,274 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,027,789...64,036,671
Ensembl chr 5:64,027,855...64,036,773 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,929,669...63,935,054
Ensembl chr 5:63,929,625...63,935,410 		JBrowse link
G LOC110258709 C-type lectin domain family 4 member A-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532
G LOC110258710 C-type lectin domain family 4 member D-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,049,470...64,060,289
Ensembl chr 5:64,058,501...64,059,604 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,707,674...63,746,369
Ensembl chr 5:63,708,020...63,746,103 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,809,298...63,836,629
Ensembl chr 5:63,809,546...63,817,225 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,951,660...63,957,154
Ensembl chr 5:63,951,722...63,957,141 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,167,418...64,168,986
Ensembl chr 5:64,167,200...64,168,983 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,900,756...62,905,366 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,136,505...64,167,410
Ensembl chr 5:64,136,505...64,167,410 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,122,280...63,135,550
Ensembl chr 5:63,122,335...63,139,664 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,106,013...64,115,582
Ensembl chr 5:64,106,098...64,115,579 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,871,506...63,885,294
Ensembl chr 5:63,871,508...63,885,034 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,751,566...63,756,480
Ensembl chr 5:63,751,558...63,756,478 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,992,618...63,999,435
Ensembl chr 5:63,992,685...63,999,438 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,937,092...63,942,112 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,601,101...63,605,301
Ensembl chr 5:63,601,134...63,612,191 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,676,220...62,715,273
Ensembl chr 5:62,676,225...62,715,067 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:63,843,742...63,858,835
Ensembl chr 5:63,843,745...63,858,716 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,181,496...64,188,275 JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 5:64,003,468...64,025,798
Ensembl chr 5:64,003,216...64,025,796 		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 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        Eye Abnormalities 760
          coloboma 118
            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 61
            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 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              Eye Abnormalities 760
                coloboma 118
                  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 61
                  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