MCID: CLB010
MIFTS: 53

Coloboma of Macula

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma of Macula

MalaCards integrated aliases for Coloboma of Macula:

Name: Coloboma of Macula 56 12 74 52 58
Coloboma 12 25 54 43 15
Congenital Ocular Coloboma 12 25 29 6
Microphthalmia, Isolated, with Coloboma 25 39
Hereditary Macular Coloboma 52 71
Agenesis of Macula 56 52
Uveoretinal Coloboma 25
Macular Coloboma 52
Coloboma of Eye 12
Ocular Coloboma 25

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12270
OMIM 56 120300
MeSH 43 D003103
NCIt 49 C98877
SNOMED-CT 67 92828000 93390002
ICD10 32 Q13.0
ICD10 via Orphanet 33 Q14.8
Orphanet 58 ORPHA98945
MedGen 41 C1852767
SNOMED-CT via HPO 68 263681008
UMLS 71 C0009363 C1852767

Summaries for Coloboma of Macula

Genetics Home Reference : 25 Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and coloboma of optic nerve. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cellular

Disease Ontology : 12 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98945 Definition Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus ). It is usually isolated, but may also be associated with Down syndrome , skeletal or renal disorders. Visit the Orphanet disease page for more resources.

Wikipedia : 74 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

More information from OMIM: 120300

Related Diseases for Coloboma of Macula

Diseases related to Coloboma of Macula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 548)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 35.6 YAP1 TMEM67 SALL2 RBP4 PAX6 MYH10
2 coloboma of optic nerve 35.3 SALL2 PAX6 PAX2 FZD5 ABCB6
3 papillorenal syndrome 35.0 PAX6 PAX2 CRYAA CHD7
4 coloboma of iris 34.8 TMEM67 PAX6
5 microphthalmia 34.8 YAP1 VSX2 VAX2 VAX1 TMEM67 SALL2
6 coloboma of eye lens 34.6 SALL2 PAX6 FZD5 ABCB6
7 coloboma of eyelid 34.5 SALL2 PAX6 FZD5 ABCB6
8 colobomatous microphthalmia 33.6 VSX2 VAX1 RBP4 PAX6 PAX2 ABCB6
9 aniridia 1 33.3 VSX2 PAX6 PAX2 CYP1B1 CRYAA
10 fryns microphthalmia syndrome 33.2 VSX2 PAX6
11 pathologic nystagmus 31.7 TMEM67 PAX6 CRYAA
12 ptosis 31.7 SNAP25 PAX6 CRYAA CFAP47
13 persistent hyperplastic primary vitreous 31.3 VSX2 PAX6 PAX2 FZD5
14 intraocular pressure quantitative trait locus 31.3 PAX6 CYP1B1 CRYAA
15 lens subluxation 31.3 VSX2 PAX6 CRYAA
16 scleral staphyloma 31.2 PAX2 CRYAA
17 peters-plus syndrome 31.2 VSX2 PAX6 CYP1B1 CRYAA
18 fundus dystrophy 31.2 VSX2 TMEM67 PAX6 CRYAA
19 eye disease 31.0 VSX2 RBP4 PAX6 CYP1B1 CRYAA
20 microphthalmia, isolated 2 30.8 VSX2 PAX6 CYP1B1
21 sclerocornea 30.8 PAX6 CRYAA
22 leukocoria 30.7 VSX2 CRYAA
23 microphthalmia, isolated 3 30.7 VSX2 PAX6
24 phimosis 30.5 CYP1B1 CRYAA
25 coloboma of macula with type b brachydactyly 12.8
26 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.7
27 microphthalmia, isolated, with coloboma 9 12.6
28 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.6
29 coloboma, ocular, autosomal recessive 12.5
30 microphthalmia, isolated, with coloboma 3 12.5
31 microphthalmia, isolated, with coloboma 5 12.5
32 retinochoroidal coloboma 12.5
33 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.5
34 nasopalpebral lipoma-coloboma syndrome 12.5
35 microphthalmia, isolated, with coloboma 7 12.5
36 microphthalmia/coloboma and skeletal dysplasia syndrome 12.5
37 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.5
38 microphthalmia, isolated, with coloboma 1 12.5
39 microphthalmia, isolated, with coloboma 6 12.5
40 coloboma of macula and skeletal anomalies 12.4
41 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.4
42 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.4
43 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.4
44 microphthalmia, isolated, with coloboma 10 12.4
45 microtia with nasolacrimal duct imperforation and eye coloboma 12.3
46 retinal dystrophy and iris coloboma with or without congenital cataract 12.3
47 microphthalmia, isolated, with coloboma 4 12.2
48 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.2
49 coach syndrome 12.2
50 temtamy syndrome 12.2

Graphical network of the top 20 diseases related to Coloboma of Macula:



Diseases related to Coloboma of Macula

Symptoms & Phenotypes for Coloboma of Macula

Human phenotypes related to Coloboma of Macula:

31
# Description HPO Frequency HPO Source Accession
1 macular coloboma 31 HP:0001116

Symptoms via clinical synopsis from OMIM:

56
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM:

120300

MGI Mouse Phenotypes related to Coloboma of Macula:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 ABCB6 CHD7 FZD5 MYH10 PAX2 PAX6
2 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 MYH10 PAX2 PAX6
3 digestive/alimentary MP:0005381 9.92 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX1
4 embryo MP:0005380 9.91 CHD7 FZD5 MYH10 PAX2 PAX6 SALL2
5 nervous system MP:0003631 9.73 CHD7 FZD5 MYH10 PAX2 PAX6 SALL2
6 vision/eye MP:0005391 9.36 CHD7 CYP1B1 FZD5 MYH10 PAX2 PAX6

Drugs & Therapeutics for Coloboma of Macula

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463
3 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases Completed NCT00076271
6 Genetics of Uveal Coloboma Recruiting NCT01778543
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
9 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
10 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma of Macula

Cochrane evidence based reviews: coloboma

Genetic Tests for Coloboma of Macula

Genetic tests related to Coloboma of Macula:

# Genetic test Affiliating Genes
1 Congenital Ocular Coloboma 29 PAX6

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

40
Eye, Retina, Brain, Heart, Kidney, Bone, Skin

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 2142)
# Title Authors PMID Year
1
Hereditary macular coloboma. 61 56
4992343 1970
2
Bilateral "Macular Coloboma" in Mother and Son. 61 56
19986141 1927
3
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 54 61
20186814 2010
4
Cardiac phenotyping in ex vivo murine embryos using microMRI. 54 61
19598179 2009
5
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. 54 61
19251738 2009
6
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 54 61
18485342 2008
7
A clinico-genetic study of renal coloboma syndrome in children. 54 61
17541647 2007
8
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 54 61
17403695 2007
9
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. 54 61
17269592 2007
10
[Molecular diagnosis of CHARGE syndrom]. 54 61
17280632 2007
11
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 54 61
16049068 2005
12
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. 54 61
12759129 2003
13
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 54 61
12503095 2003
14
[Renal-coloboma syndrome]. 54 61
12410411 2002
15
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 54 61
11826019 2002
16
Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder. 54 61
10889551 2000
17
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 54 61
10587573 2000
18
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 54 61
10466411 1999
19
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 54 61
9783702 1998
20
Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. 54 61
9459485 1998
21
Pax genes and organogenesis. 54 61
9297966 1997
22
Dominant inheritance of optic pits. 54 61
9222245 1997
23
Genomic structure of the human PAX2 gene. 54 61
8661132 1996
24
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. 61
31816153 2020
25
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. 61
31538321 2020
26
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. 61
32032630 2020
27
CHARGE syndrome in nine patients from China. 61
31729160 2020
28
CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion. 61
32009935 2020
29
Microspherophakia in a 47, XYY Syndrome Patient: A Case Report. 61
32009932 2020
30
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. 61
31913554 2020
31
Fraser syndrome without cryptophthalmos: Two cases. 61
31923588 2020
32
Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome. 61
31610215 2020
33
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. 61
31746431 2020
34
Swept-Source OCT Analysis of the Margin of Choroidal Coloboma: New Insights. 61
31678052 2020
35
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. 61
30711679 2020
36
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 61
28820764 2020
37
Pars-plana vitrectomy with phacofragmentation for hyperdense cataracts in eyes with severe microcornea and chorio-retinal coloboma: A novel approach. 61
31856479 2020
38
Combined Transcranial-supraorbital and Transconjunctival Approach for Optic Nerve Coloboma with Ophthalmic Dysplasia Associated with Rheumatoid Arthritis. 61
31938674 2020
39
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. 61
31649160 2019
40
Macular maldevelopment in ATF6-mediated retinal dysfunction. 61
31900015 2019
41
Occipital teratoma in a neonate with CHARGE syndrome: a case report. 61
31797071 2019
42
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye. 61
31796115 2019
43
Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. 61
31833191 2019
44
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. 61
30472487 2019
45
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. 61
31692565 2019
46
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene. 61
31718390 2019
47
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. 61
31502381 2019
48
Multicolour imaging in retinochoroidal coloboma. 61
31805602 2019
49
Experimental Study of the Tissue Repair of Neo-Esophagus After Esophageal Muscularis Resection. 61
30688693 2019
50
Case series: Amniotic band sequence with craniofacial abnormalities. 61
31407870 2019

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser)SNV Pathogenic 3477 rs121907925 11:31815343-31815343 11:31793795-31793795
2 CYP1B1 NM_000104.3(CYP1B1):c.868dup (p.Arg290fs)duplication Pathogenic 68468 rs587778875 2:38301663-38301664 2:38074520-38074521
3 YAP1 NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)SNV Pathogenic 120326 rs587777249 11:101984923-101984923 11:102114192-102114192
4 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
5 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
6 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)SNV Pathogenic 430902 rs1329285216 10:95353754-95353754 10:93593997-93593997
7 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
8 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)SNV Pathogenic/Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
9 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
10 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
11 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
12 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
13 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
14 CDON NM_016952.4(CDON):c.622C>T (p.Arg208Ter)SNV Likely pathogenic 637955 11:125888243-125888243 11:126018348-126018348
15 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
16 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His)SNV Conflicting interpretations of pathogenicity 7739 rs79204362 2:38298394-38298394 2:38071251-38071251
17 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn)SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
18 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys)SNV Conflicting interpretations of pathogenicity, other 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
19 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)SNV Uncertain significance 374241 rs749612238 9:123234112-123234112 9:120471834-120471834
20 BFSP1 NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)SNV Uncertain significance 68471 rs557601555 20:17479645-17479645 20:17499000-17499000
21 SLC16A12 NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)SNV Uncertain significance 68476 rs150800688 10:91198917-91198917 10:89439160-89439160
22 BFSP1 NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)deletion Benign 68470 rs548358901 20:17474721-17474722 20:17494076-17494077

Copy number variations for Coloboma of Macula from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 80271 13 88800000 93800000 Deletion coloboma

Expression for Coloboma of Macula

Search GEO for disease gene expression data for Coloboma of Macula.

Pathways for Coloboma of Macula

GO Terms for Coloboma of Macula

Biological processes related to Coloboma of Macula according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.09 VSX2 VAX2 VAX1 SALL2 PAX6 PAX2
2 multicellular organism development GO:0007275 10.04 VSX2 VAX2 VAX1 PAX6 PAX2 FZD5
3 brain development GO:0007420 9.78 VAX1 PAX6 MYH10 ABCB6
4 neuron migration GO:0001764 9.71 VAX1 PAX6 MYH10
5 central nervous system development GO:0007417 9.67 VAX2 VAX1 PAX6 CHD7
6 regulation of neurogenesis GO:0050767 9.58 YAP1 PAX6 CHD7
7 aorta development GO:0035904 9.56 MYH10 CHD7
8 axonogenesis GO:0007409 9.56 VAX2 PAX6 PAX2 MYH10
9 cell fate determination GO:0001709 9.52 PAX6 PAX2
10 embryonic camera-type eye morphogenesis GO:0048596 9.51 PAX6 FZD5
11 eye development GO:0001654 9.5 SALL2 RBP4 PAX6
12 adult heart development GO:0007512 9.49 MYH10 CHD7
13 dorsal/ventral axis specification GO:0009950 9.46 VAX2 PAX6
14 retina development in camera-type eye GO:0060041 9.46 VAX2 PAX6 MYH10 CHD7
15 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.43 YAP1 PAX2
16 camera-type eye development GO:0043010 9.35 VAX2 VAX1 PAX6 PAX2 CHD7
17 visual perception GO:0007601 9.17 VSX2 VAX2 RBP4 PAX6 PAX2 CYP1B1

Molecular functions related to Coloboma of Macula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 VSX2 VAX2 VAX1 SALL2 PAX6 PAX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 YAP1 VAX2 VAX1 PAX6 CHD7
3 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 8.96 VAX2 VAX1

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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