MCID: CLB010
MIFTS: 54

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 58 12 77 54 60
Coloboma 12 26 56 45 15
Congenital Ocular Coloboma 12 26 30 6
Microphthalmia, Isolated, with Coloboma 26 41
Hereditary Macular Coloboma 54 74
Agenesis of Macula 58 54
Ocular Coloboma 26 38
Uveoretinal Coloboma 26
Macular Coloboma 54
Coloboma of Eye 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12270
OMIM 58 120300
KEGG 38 H01114
MeSH 45 D003103
NCIt 51 C98877
SNOMED-CT 69 92828000 93390002
ICD10 34 Q13.0
ICD10 via Orphanet 35 Q14.8
Orphanet 60 ORPHA98945
MedGen 43 C1852767
SNOMED-CT via HPO 70 263681008

Summaries for Coloboma of Macula

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98945Disease definitionColoboma 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.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma of optic nerve and coloboma, ocular, autosomal dominant. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6), and among its related pathways/superpathways is Ectoderm Differentiation. The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cardiovascular system

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.

Genetics Home Reference : 26 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.

Wikipedia : 77 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

Description 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 336)
# Related Disease Score Top Affiliating Genes
1 coloboma of optic nerve 34.4 ABCB6 FZD5 PAX2 PAX6 SALL2
2 coloboma, ocular, autosomal dominant 34.2 ABCB6 CYP1B1 FIBP FZD5 PAX6 RBP4
3 coloboma of iris 34.1 PAX6 TMEM67
4 coloboma of eye lens 33.8 ABCB6 FZD5 PAX6 SALL2
5 coloboma of eyelid 33.7 ABCB6 FZD5 PAX6 SALL2
6 microphthalmia 32.5 ABCB6 MAB21L2 MCOPCB1 PAX2 PAX6 RBP4
7 colobomatous microphthalmia 31.8 ABCB6 MAB21L2 MCOPCB1 MCOPCB2 RBP4
8 coloboma of macula with type b brachydactyly 12.7
9 coloboma, ocular, autosomal recessive 12.4
10 retinochoroidal coloboma 12.4
11 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.4
12 nasopalpebral lipoma-coloboma syndrome 12.4
13 microphthalmia, isolated, with coloboma 7 12.4
14 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.4
15 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.4
16 microphthalmia/coloboma and skeletal dysplasia syndrome 12.4
17 papillorenal syndrome 12.3
18 coloboma of macula and skeletal anomalies 12.3
19 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
20 microphthalmia, isolated, with coloboma 5 12.3
21 microphthalmia, isolated, with coloboma 6 12.3
22 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.3
23 microphthalmia, isolated, with coloboma 3 12.3
24 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.3
25 microphthalmia, isolated, with coloboma 9 12.3
26 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.3
27 microphthalmia, isolated, with coloboma 10 12.3
28 microphthalmia, isolated, with coloboma 1 12.3
29 microtia with nasolacrimal duct imperforation and eye coloboma 12.2
30 retinal dystrophy and iris coloboma with or without congenital cataract 12.2
31 uveal coloboma-cleft lip and palate-intellectual disability 12.1
32 cerebral-cerebellar-coloboma syndrome, x-linked 12.0
33 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
34 microphthalmia, isolated, with coloboma 2 12.0
35 coach syndrome 12.0
36 microphthalmia, isolated, with coloboma 4 11.9
37 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.9
38 coloboma of inferior eyelid 11.9
39 coloboma of superior eyelid 11.9
40 temtamy syndrome 11.9
41 microphthalmia, syndromic 9 11.9
42 aortic arch interruption, facial palsy, and retinal coloboma 11.9
43 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 11.9
44 microphthalmia/anophthalmia/coloboma spectrum 11.9
45 coloboma of optic papilla 11.9
46 coloboma porencephaly hydronephrosis 11.9
47 esophageal atresia coloboma talipes 11.9
48 hypercalcinuria macular coloboma 11.9
49 short limb dwarf edema iris coloboma 11.9
50 charge syndrome 11.9

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:

33
# Description HPO Frequency HPO Source Accession
1 macular coloboma 33 HP:0001116

Symptoms via clinical synopsis from OMIM:

58
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM:

120300

MGI Mouse Phenotypes related to Coloboma of Macula:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CHD7 FZD5 MAB21L2 PAX2 PAX6 RBP4
2 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 MAB21L2 PAX2 PAX6
3 digestive/alimentary MP:0005381 9.92 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX1
4 embryo MP:0005380 9.91 CHD7 FZD5 PAX2 PAX6 SALL2 SNAP25
5 nervous system MP:0003631 9.7 CHD7 FZD5 PAX2 PAX6 SALL2 SNAP25
6 vision/eye MP:0005391 9.32 CHD7 CYP1B1 FZD5 MAB21L2 PAX2 PAX6

Drugs & Therapeutics for Coloboma of Macula

Drugs for Coloboma of Macula (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463 Not Applicable
3 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
4 Genetics of Uveal Coloboma Recruiting NCT01778543
5 Family Studies of Uveal Coloboma Terminated NCT00368004
6 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025 Not Applicable
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
9 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
10 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678

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 30 PAX6

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

42
Eye, Retina, Brain, Heart, Testes, Skin, Kidney

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 690)
# Title Authors Year
1
Ocular albinism with bilateral ocular coloboma - A rare association. ( 30777963 )
2019
2
Bilateral congenital macular coloboma and cataract: A case report. ( 30882657 )
2019
3
Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. ( 31007244 )
2019
4
Familial exudative vitreoretinopathy in a patient with choroidal coloboma. ( 30846457 )
2019
5
Cataract surgery outcomes in eyes with chorioretinal coloboma. ( 31030778 )
2019
6
A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment. ( 31007250 )
2019
7
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. ( 30986449 )
2019
8
Corneal Endothelial Cell Density in Uveal Coloboma Associated With Microcornea. ( 30222717 )
2019
9
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits. ( 30695021 )
2019
10
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. ( 30711679 )
2019
11
Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case series post vitrectomy. ( 30766938 )
2019
12
Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408. ( 30998249 )
2019
13
An update on the genetics of ocular coloboma. ( 31073883 )
2019
14
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
15
Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism. ( 29582820 )
2018
16
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. ( 29930474 )
2018
17
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. ( 29700284 )
2018
18
Bilateral lens coloboma associated with Marfan syndrome. ( 30038176 )
2018
19
Optic nerve sheath meningocele associated with coloboma. ( 30270035 )
2018
20
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. ( 30513139 )
2018
21
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. ( 29730053 )
2018
22
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. ( 29498412 )
2018
23
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
24
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). ( 29575628 )
2018
25
Atypical superior iris and retinochoroidal coloboma. ( 30249843 )
2018
26
Association of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment. ( 30173139 )
2018
27
Serous macular detachment due to nasally located optic disc pit-coloboma. ( 30450323 )
2018
28
Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis. ( 31047491 )
2018
29
Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). ( 28702949 )
2018
30
RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA. ( 28338555 )
2018
31
Corneal thickness in uveal coloboma with microcornea. ( 29192683 )
2018
32
Retino-choroidal coloboma: Study through retinography, fluorescence angiography, ecography and optical coherence tomography. ( 29398229 )
2018
33
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. ( 29522511 )
2018
34
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma. ( 29643788 )
2018
35
Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma. ( 29730056 )
2018
36
Bilateral macular coloboma. ( 29773313 )
2018
37
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. ( 30038167 )
2018
38
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. ( 30038168 )
2018
39
"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS. ( 30045150 )
2018
40
SUCCESSFUL SURGICAL OUTCOME OF FULL-THICKNESS MACULAR HOLE WITH CHOROIDAL COLOBOMA. ( 30048407 )
2018
41
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature. ( 30388281 )
2018
42
Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings. ( 30430533 )
2018
43
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. ( 30445451 )
2018
44
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. ( 30549247 )
2018
45
Atypical Choroidal Coloboma. ( 31047552 )
2018
46
Atypical Retinal Lamination Pattern Associated with Bilateral Chorioretinal Coloboma. ( 31047595 )
2018
47
Choroidal Coloboma Presenting as Leukocoria. ( 28526217 )
2017
48
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2017
49
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. ( 28327570 )
2017
50
Cataract, strabismus and chorioretinal coloboma in paediatric HIV infection. ( 27956343 )
2017

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
3 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
5 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
6 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
7 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
8 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh37 Chromosome 2, 38302291: 38302291
9 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh38 Chromosome 2, 38075148: 38075148
10 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh37 Chromosome 2, 38301847: 38301847
11 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh38 Chromosome 2, 38074704: 38074704
12 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
13 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
14 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh37 Chromosome 20, 17474721: 17474722
15 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh38 Chromosome 20, 17494076: 17494077
16 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh37 Chromosome 20, 17479645: 17479645
17 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh38 Chromosome 20, 17499000: 17499000
18 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh37 Chromosome 10, 91198917: 91198917
19 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh38 Chromosome 10, 89439160: 89439160
20 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
21 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
22 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
23 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
24 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
25 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
26 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh38 Chromosome 11, 31793787: 31793787
27 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335
28 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
29 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
30 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh38 Chromosome 10, 93593997: 93593997
31 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh37 Chromosome 10, 95353754: 95353754
32 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970

Copy number variations for Coloboma of Macula from CNVD:

7
# CNVD ID Chromosom 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

Pathways related to Coloboma of Macula according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 FZD5 PAX6 VAX2

GO Terms for Coloboma of Macula

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.73 ABCB6 PAX6 VAX1 VAX2
2 central nervous system development GO:0007417 9.69 CHD7 PAX6 VAX1
3 axonogenesis GO:0007409 9.63 PAX2 PAX6 VAX2
4 retina development in camera-type eye GO:0060041 9.58 CHD7 PAX6 VAX2
5 cell fate determination GO:0001709 9.49 PAX2 PAX6
6 embryonic camera-type eye morphogenesis GO:0048596 9.48 FZD5 PAX6
7 eye development GO:0001654 9.46 MAB21L2 PAX6 RBP4 SALL2
8 regulation of neurogenesis GO:0050767 9.43 CHD7 PAX6 YAP1
9 visual perception GO:0007601 9.43 CRYAA CYP1B1 PAX2 PAX6 RBP4 VAX2
10 dorsal/ventral axis specification GO:0009950 9.37 PAX6 VAX2
11 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.32 PAX2 YAP1
12 camera-type eye development GO:0043010 9.1 CHD7 MAB21L2 PAX2 PAX6 VAX1 VAX2
13 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 CHD7 FZD5 PAX2 PAX6 SALL2 YAP1
14 multicellular organism development GO:0007275 10 FZD5 MAB21L2 PAX2 PAX6 VAX1 VAX2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.13 PAX6 VAX1 VAX2
2 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 8.62 VAX1 VAX2

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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