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
Accession: DOID:12270
browse the term
Definition: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Synonyms: exact_synonym: COI; COLOBOMA, OCULAR, AUTOSOMAL DOMINANT; agenesis of macula; coloboma of eye; coloboma of iris, choroid, and retina; colobomas; congenital ocular coloboma; ocular coloboma; uveoretinal coloboma
narrow_synonym: OCULAR COLOBOMA, AUTOSOMAL RECESSIVE
primary_id: MESH:D003103
alt_id: OMIM:120200 ; 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 .
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Actb
actin, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22366783
NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
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Actg1
actin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22366783
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
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Aldh7a1
aldehyde dehydrogenase 7 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25004007
NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
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Bfsp1
beaded filament structural protein 1
ISO
ClinVar Annotator: match by term: Ocular coloboma
ClinVar
PMID:24281366 PMID:28492532
NCBI chr 3:137,935,345...137,992,652
Ensembl chr 3:137,935,345...137,969,658
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Capn15
calpain 15
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar
PMID:25741868
NCBI chr10:15,319,772...15,346,607
Ensembl chr10:15,319,774...15,346,374
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Cdk5rap2
CDK5 regulatory subunit associated protein 2
ISO
ClinVar Annotator: match by term: Coloboma
ClinVar
NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
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Cdon
cell adhesion associated, oncogene regulated
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar
NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar Annotator: match by term: Coloboma of eye
ClinVar
PMID:9097971 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar
PMID:26660953
NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
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Fzd5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar
PMID:25741868 PMID:26908622
NCBI chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739
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Lamb1
laminin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18809619
NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
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Mab21l2
mab-21 like 2
ISO
DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human)
RGD
PMID:25719200
RGD:11553846
NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
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Pax6
paired box 6
ISO
ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
OMIM ClinVar
PMID:12721955
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Rbp4
retinol binding protein 4
ISO
ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
ClinVar
PMID:29178648
NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Ocular coloboma, autosomal recessive
ClinVar OMIM
PMID:24412933 PMID:25741868
NCBI chr15:28,728,471...28,746,042
Ensembl chr15:28,728,140...28,746,042
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Slbp
stem-loop binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30695021
NCBI chr14:82,356,916...82,366,368
Ensembl chr14:82,356,916...82,366,368
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: Ocular coloboma
ClinVar
PMID:24281366
NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar Annotator: match by term: Coloboma of eye
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Ocular coloboma
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318
NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
ClinVar
PMID:24462371
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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Actb
actin, beta
ISS ISO
OMIM:243310 | OMIM:614583 ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532
NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
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Actg1
actin, gamma 1
ISS
OMIM:243310 | OMIM:614583
MouseDO
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
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Actb
actin, beta
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation ClinVar Annotator: match by OMIM:243310
OMIM ClinVar
PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:25979418 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008
NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 ClinVar Annotator: match by OMIM:614583
OMIM ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:29671837
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked
ClinVar
PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947
NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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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: Zunich neuroectodermal syndrome ClinVar Annotator: match by OMIM:280000
OMIM ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532
NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
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Ahi1
Abelson helper integration site 1
ISO
ClinVar Annotator: match by term: Joubert syndrome with ocular defect
ClinVar
PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532
NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: COACH syndrome ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar
PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 PMID:29620724
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: COACH syndrome ClinVar Annotator: match by term: Joubert syndrome with hepatic defect ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29991045
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Joubert syndrome with hepatic defect ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS ClinVar Annotator: match by term: COACH syndrome DNA:missense mutations: :multiple ClinVar Annotator: match by OMIM:216360
ClinVar CTD
PMID:2929661 PMID:8862632 PMID:12368986 PMID:17160906 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28497568 PMID:28973083 , PMID:19574260 , PMID:19058225
RGD:11535946 , RGD:11535944
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: COACH SYNDROME 1
ClinVar
PMID:18950740 PMID:22241855 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: COACH SYNDROME 1
ClinVar
PMID:17558409 PMID:25741868 PMID:28492532
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: COACH SYNDROME 1
OMIM ClinVar
PMID:17397051 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: COACH SYNDROME 2
OMIM ClinVar
PMID:18950740 PMID:19574260 PMID:19777577 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28492532
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: COACH SYNDROME 3
OMIM ClinVar
PMID:19574260 PMID:26092869
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Dhx37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Coloboma of optic disc
ClinVar
PMID:31256877
NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Coloboma of optic disc
ClinVar
PMID:25741868
NCBI chr 3:95,733,810...95,954,987
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Coloboma of optic disc ClinVar Annotator: match by OMIM:120430
OMIM ClinVar
PMID:12721955 PMID:25741868
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Mitf
melanocyte inducing transcription factor
ISO
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
ClinVar OMIM
PMID:27889061
NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
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Igbp1
immunoglobulin binding protein 1
ISO
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia ClinVar Annotator: match by OMIM:300472
OMIM ClinVar
PMID:14556245 PMID:25741868
NCBI chr X:70,322,764...70,345,005
Ensembl chr X:70,322,755...70,345,005
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Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842230
NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome
ClinVar
PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28166811 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289
NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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Rbp4
retinol binding protein 4
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10
OMIM ClinVar
PMID:25741868 PMID:25910211
NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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Vsx2
visual system homeobox 2
ISO
ClinVar Annotator: match by OMIM:610092 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3
ClinVar OMIM
PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25606400 PMID:25741868 PMID:28492532
NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
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Shh
sonic hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 PMID:25741868
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 ClinVar Annotator: match by OMIM:613703
OMIM ClinVar
PMID:19864492 PMID:24281366 PMID:25741868
NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
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Gdf6
growth differentiation factor 6
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
OMIM ClinVar
PMID:19864492 PMID:23307924
NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 ClinVar Annotator: match by OMIM:614497
OMIM ClinVar
PMID:19504436 PMID:22226084 PMID:24281366
NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
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Tenm3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by OMIM:615145 ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9
ClinVar OMIM
PMID:22766609 PMID:25741868 PMID:27103084 PMID:29753094 PMID:30513139
NCBI chr16:46,422,676...46,929,023
Ensembl chr16:46,731,403...46,926,245
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Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by OMIM:612713
OMIM ClinVar
PMID:18781183 PMID:20700148
NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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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 OMIM:248450 DNA:mutation:splice junction: DNA:deletion,frameshift,missense mutations:exons,cds: CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532 , PMID:21507892 , PMID:21507892
RGD:11070482 , RGD:11070482
NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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Smad4
SMAD family member 4
ISO
RGD
PMID:20735985
RGD:12880033
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Vsx2
visual system homeobox 2
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities
ClinVar
PMID:11341888 PMID:17661825 PMID:25741868
NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome
ClinVar
PMID:23636874 PMID:27139419
NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities ClinVar Annotator: match by OMIM:120330
OMIM ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9536098 PMID:9760197 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:17576681 PMID:22213154 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28166811 PMID:28492532 PMID:30773290
NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
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Mir204
microRNA 204
ISO
ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract
OMIM ClinVar
PMID:26056285
NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
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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
NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
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Rbp4
retinol binding protein 4
ISO
ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar Annotator: match by OMIM:615147
OMIM ClinVar
PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 PMID:25910211 PMID:28492532
NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
G
Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 14 ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome
ClinVar
PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008
NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
G
Mab21l2
mab-21 like 2
ISO
ClinVar Annotator: match by OMIM:615877 ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome
ClinVar OMIM
PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008
NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
G
Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048
G
Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
G
Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
G
Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
G
C1r
complement C1r
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
G
C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
G
C1s
complement C1s
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
G
C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
G
Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
G
Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
G
Clec4a
C-type lectin domain family 4, member A
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313
G
Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993
G
Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
G
Clec4b2
C-type lectin domain family 4, member B2
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
G
Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
G
Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
G
Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
G
Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189 Ensembl chr 4:111,298,713...111,299,189
G
Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
G
Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 Ensembl chr 9:157,285,179...157,294,047
G
Fam90a1
family with sequence similarity 90, member A1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr16:75,001,033...75,016,173
G
Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
G
Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
G
Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
G
Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Temtamy syndrome ClinVar Annotator: match by OMIM:218340
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29269699 PMID:29383837
NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018 Ensembl chr 9:157,264,383...157,266,018
G
Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
G
Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653 Ensembl chr 9:157,294,287...157,304,653
G
Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
G
Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
G
Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,236,786...157,236,854
G
Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
G
Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
G
P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 Ensembl chr 4:156,983,915...157,009,674
G
Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
G
Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
G
Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161
G
Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 Ensembl chr 4:155,408,233...155,631,856
G
Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379 Ensembl chr 9:157,326,727...157,328,379
G
Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 Ensembl chr 9:157,328,379...157,331,905
G
Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
G
Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation ClinVar Annotator: match by OMIM:120433
OMIM ClinVar
PMID:4997531 PMID:24462371 PMID:25741868
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16918
sensory system disease
5332
eye disease
2643
Eye Abnormalities
358
coloboma
85
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 +
4
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
1
Calloso-Genital Dysplasia
0
Coloboma of Alar-Nasal Cartilages with Telecanthus
0
Coloboma of Macula Type B Brachydactyly
0
Coloboma of Macula and Skeletal Anomalies
0
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
0
Hereditary Macular Coloboma
1
Hittner Hirsch Kreh Syndrome
1
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
0
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
0
Isolated Microphthalmia with Coloboma +
7
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
1
Temtamy syndrome
41
Yim Ebbin Syndrome
0
coloboma of optic nerve
3
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
1
renal coloboma syndrome
1
syndromic microphthalmia 14
2
uveal coloboma-cleft lip and palate-intellectual disability
1
Path 2
disease
16918
disease of anatomical entity
16286
nervous system disease
11864
sensory system disease
5332
eye disease
2643
Eye Abnormalities
358
coloboma
85
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 +
4
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
1
Calloso-Genital Dysplasia
0
Coloboma of Alar-Nasal Cartilages with Telecanthus
0
Coloboma of Macula Type B Brachydactyly
0
Coloboma of Macula and Skeletal Anomalies
0
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
0
Hereditary Macular Coloboma
1
Hittner Hirsch Kreh Syndrome
1
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
0
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
0
Isolated Microphthalmia with Coloboma +
7
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
1
Temtamy syndrome
41
Yim Ebbin Syndrome
0
coloboma of optic nerve
3
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
1
renal coloboma syndrome
1
syndromic microphthalmia 14
2
uveal coloboma-cleft lip and palate-intellectual disability
1