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 57 12 73 20 58
Coloboma 12 43 54 44 15
Congenital Ocular Coloboma 12 43 29 6
Microphthalmia, Isolated, with Coloboma 43 6 39
Ocular Coloboma 43 36 6
Hereditary Macular Coloboma 20 70
Agenesis of Macula 57 20
Uveoretinal Coloboma 43
Macular Coloboma 20
Coloboma of Eye 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 120300
KEGG 36 H01114
MeSH 44 D003103
NCIt 50 C98877
SNOMED-CT 67 93390002
ICD10 32 Q13.0
ICD10 via Orphanet 33 Q14.8
Orphanet 58 ORPHA98945
MedGen 41 C1852767
SNOMED-CT via HPO 68 263681008
UMLS 70 C0009363 C1852767

Summaries for Coloboma of Macula

MedlinePlus Genetics : 43 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 papillorenal syndrome and coloboma, ocular, autosomal dominant. An important gene associated with Coloboma of Macula is FZD5 (Frizzled Class Receptor 5), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, retina and heart, 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.

GARD : 20 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.

KEGG : 36 Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been reported that mutation of SALL2 causes recessive ocular coloboma.

Wikipedia : 73 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 533)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 33.6 PAX6 PAX2 CRYAA CHD7
2 coloboma, ocular, autosomal dominant 33.5 YAP1 WDR37 TMEM67 SALL2 RBP4 PAX6
3 coloboma of optic nerve 33.4 SALL2 PAX6 PAX2 FZD5 ELP4 ABCB6
4 microphthalmia 33.3 YAP1 TMEM67 SALL2 RBP4 PAX6 PAX2
5 coloboma of iris 32.8 TMEM67 PAX6
6 coloboma of eye lens 32.5 SALL2 PAX6 FZD5 ABCB6
7 colobomatous microphthalmia 32.4 RBP4 PAX6 PAX2 C12orf57 ABCB6
8 coloboma of eyelid 32.2 SALL2 PAX6 FZD5 ABCB6
9 aniridia 1 32.2 PAX6 PAX2 ELP4 CRYAA
10 pathologic nystagmus 31.3 TMEM67 PAX6 ELP4 CRYAA
11 hypertelorism 31.1 PAX6 MYH10 ELP4
12 optic nerve hypoplasia, bilateral 31.0 PAX6 PAX2 ELP4
13 vesicoureteral reflux 1 30.9 PAX2 CHD7 C12orf57
14 scleral staphyloma 30.7 PAX2 CRYAA
15 keratitis, hereditary 30.6 PAX6 ELP4 CRYAA
16 persistent hyperplastic primary vitreous 30.6 PAX6 PAX2 FZD5
17 esotropia 30.5 PAX6 CRYAA CHD7
18 isolated aniridia 30.4 PAX6 ELP4
19 sclerocornea 30.4 PAX6 CRYAA
20 aniridia 2 30.3 PAX6 ELP4
21 anisometropia 30.2 PAX6 CRYAA
22 anterior segment dysgenesis 5 29.8 PAX6 ELP4
23 coloboma of macula with type b brachydactyly 11.8
24 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.6
25 coach syndrome 1 11.5
26 microphthalmia, isolated, with coloboma 9 11.5
27 retinochoroidal coloboma 11.5
28 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 11.5
29 microphthalmia/coloboma and skeletal dysplasia syndrome 11.4
30 coloboma, ocular, autosomal recessive 11.4
31 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.4
32 microphthalmia, isolated, with coloboma 6 11.4
33 temtamy syndrome 11.4
34 charge syndrome 11.4
35 microphthalmia, isolated, with coloboma 3 11.4
36 microphthalmia, isolated, with coloboma 5 11.4
37 nasopalpebral lipoma-coloboma syndrome 11.4
38 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.4
39 microphthalmia, isolated, with coloboma 7 11.4
40 abruzzo-erickson syndrome 11.4
41 kahrizi syndrome 11.4
42 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 11.3
43 microphthalmia, syndromic 9 11.3
44 microphthalmia, isolated, with coloboma 1 11.3
45 microphthalmia, isolated, with coloboma 10 11.3
46 microtia with nasolacrimal duct imperforation and eye coloboma 11.3
47 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 11.3
48 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 11.3
49 baraitser-winter syndrome 1 11.2
50 baraitser-winter syndrome 11.2

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®:

57 (Updated 20-May-2021)
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM®:

120300 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Coloboma of Macula:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CDON CHD7 FZD5 MYH10 PAX2 PAX6
2 embryo MP:0005380 10 C12orf57 CDON CHD7 FZD5 MYH10 PAX2
3 mortality/aging MP:0010768 9.97 ABCB6 C12orf57 CAPN15 CDON CHD7 FZD5
4 digestive/alimentary MP:0005381 9.87 CDON CHD7 FZD5 PAX6 RBP4 TMEM67
5 nervous system MP:0003631 9.7 CDON CHD7 FZD5 MYH10 PAX2 PAX6
6 vision/eye MP:0005391 9.28 CAPN15 CDON CHD7 FZD5 MYH10 PAX2

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 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
3 Genetics of Uveal Coloboma Recruiting NCT01778543
4 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
5 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

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

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

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 2279)
# Title Authors PMID Year
1
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. 61 6
26908622 2016
2
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 6 61
24462371 2014
3
ABCB6 mutations cause ocular coloboma. 61 6
22226084 2012
4
[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. 6 61
19504436 2009
5
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 6
12721955 2003
6
Hereditary macular coloboma. 57 61
4992343 1970
7
Bilateral "Macular Coloboma" in Mother and Son. 57 61
19986141 1927
8
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 6
29178648 2017
9
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 54 61
20186814 2010
10
Cardiac phenotyping in ex vivo murine embryos using microMRI. 54 61
19598179 2009
11
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. 54 61
19251738 2009
12
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 54 61
18485342 2008
13
A clinico-genetic study of renal coloboma syndrome in children. 61 54
17541647 2007
14
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 61 54
17403695 2007
15
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. 61 54
17269592 2007
16
[Molecular diagnosis of CHARGE syndrom]. 54 61
17280632 2007
17
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 61 54
16049068 2005
18
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. 61 54
12759129 2003
19
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 61 54
12503095 2003
20
[Renal-coloboma syndrome]. 61 54
12410411 2002
21
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 54 61
11826019 2002
22
Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder. 61 54
10889551 2000
23
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 61 54
10587573 2000
24
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 54 61
10466411 1999
25
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 54 61
9783702 1998
26
Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. 54 61
9459485 1998
27
Pax genes and organogenesis. 54 61
9297966 1997
28
Dominant inheritance of optic pits. 54 61
9222245 1997
29
Genomic structure of the human PAX2 gene. 54 61
8661132 1996
30
Cataract surgery in eyes with associated coloboma: Predictors of outcome and safety of different surgical techniques. 61
33727463 2021
31
Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine. 61
33573910 2021
32
Multiple roles for Pax2 in the embryonic mouse eye. 61
33428890 2021
33
[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. 61
33784779 2021
34
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. 61
33369122 2021
35
Transscleral filtration revealing a chorioretinal coloboma. 61
33385097 2021
36
Retinal astigmatism induced by a chorioretinal coloboma? 61
32452047 2021
37
Ocular coloboma-a comprehensive review for the clinician. 61
33746210 2021
38
Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report. 61
33781219 2021
39
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. 61
32728807 2021
40
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. 61
33719903 2021
41
Intraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction. 61
32732546 2021
42
Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma. 61
33530723 2021
43
Outcomes of the Perplexed Surgical Management of Retinal Detachment in Eyes with Coloboma. 61
33596617 2021
44
Neuroimaging in Children with Ophthalmological Complaints: A Review. 61
33615595 2021
45
Mosaic cat eye syndrome in a child with unilateral iris coloboma. 61
33465332 2021
46
Cecr2 mutant mice as a model for human cat eye syndrome. 61
33542446 2021
47
A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome. 61
33341718 2021
48
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome. 61
33599186 2021
49
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism. 61
33024313 2021
50
[Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency]. 61
33565074 2021

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser) SNV Pathogenic 3477 rs121907925 GRCh37: 11:31815343-31815343
GRCh38: 11:31793795-31793795
2 ABCB6 NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) SNV Pathogenic 30482 rs387906910 GRCh37: 2:220074758-220074758
GRCh38: 2:219210036-219210036
3 ABCB6 NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) SNV Pathogenic 30483 rs387906911 GRCh37: 2:220083227-220083227
GRCh38: 2:219218505-219218505
4 YAP1 NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter) SNV Pathogenic 120326 rs587777249 GRCh37: 11:101984923-101984923
GRCh38: 11:102114192-102114192
5 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn) SNV Pathogenic 430902 rs1329285216 GRCh37: 10:95353754-95353754
GRCh38: 10:93593997-93593997
6 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
7 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
8 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 rs755969165 GRCh37: 17:8395781-8395781
GRCh38: 17:8492463-8492463
9 FZD5 NM_003468.4(FZD5):c.820del (p.Leu274fs) Deletion Pathogenic 694329 GRCh37: 2:208632644-208632644
GRCh38: 2:207767920-207767920
10 FZD5 NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn) Insertion Likely pathogenic 694330 GRCh37: 2:208632382-208632383
GRCh38: 2:207767658-207767659
11 FZD5 NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del) Deletion Likely pathogenic 694331 GRCh37: 2:208632218-208632283
GRCh38: 2:207767494-207767559
12 CAPN15 NM_005632.2:c.2904+1_2905-45del Deletion Likely pathogenic 929503 GRCh37:
GRCh38:
13 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val) SNV Likely pathogenic 41942 rs587776954 GRCh37: 12:7053285-7053285
GRCh38: 12:6944122-6944122
14 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Likely pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
15 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
16 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely pathogenic 633616 rs1589088702 GRCh37: 10:1126406-1126406
GRCh38: 10:1080466-1080466
17 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely pathogenic 633617 rs1589088690 GRCh37: 10:1126376-1126376
GRCh38: 10:1080436-1080436
18 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 633618 rs1589088703 GRCh37: 10:1126409-1126409
GRCh38: 10:1080469-1080469
19 CDON NM_001243597.1(CDON):c.622C>T (p.Arg208Ter) SNV Likely pathogenic 637955 rs767611891 GRCh37: 11:125888243-125888243
GRCh38: 11:126018348-126018348
20 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Likely pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
21 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) SNV Likely pathogenic 189359 rs786204849 GRCh37: 11:65652652-65652652
GRCh38: 11:65885181-65885181
22 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln) SNV Uncertain significance 374241 rs749612238 GRCh37: 9:123234112-123234112
GRCh38: 9:120471834-120471834
23 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) SNV Uncertain significance 68467 rs57865060 GRCh37: 2:38301847-38301847
GRCh38: 2:38074704-38074704
24 CYP1B1 NM_000104.3(CYP1B1):c.868dup (p.Arg290fs) Duplication Uncertain significance 68468 rs587778875 GRCh37: 2:38301663-38301664
GRCh38: 2:38074520-38074521
25 BFSP1 NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) Deletion Uncertain significance 68470 rs548358901 GRCh37: 20:17474721-17474722
GRCh38: 20:17494076-17494077
26 BFSP1 NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser) SNV Uncertain significance 68471 rs557601555 GRCh37: 20:17479645-17479645
GRCh38: 20:17499000-17499000
27 ABCB6 NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) SNV Uncertain significance 68473 rs150221689 GRCh37: 2:220082504-220082504
GRCh38: 2:219217782-219217782
28 SLC16A12 NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) SNV Uncertain significance 68476 rs150800688 GRCh37: 10:91198917-91198917
GRCh38: 10:89439160-89439160
29 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) SNV Uncertain significance 7739 rs79204362 GRCh37: 2:38298394-38298394
GRCh38: 2:38071251-38071251
30 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Uncertain significance 7744 rs9282671 GRCh37: 2:38302291-38302291
GRCh38: 2:38075148-38075148
31 ABCB6 NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) SNV Uncertain significance 916022 GRCh37: 2:220075799-220075799
GRCh38: 2:219211077-219211077

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
2 81042 14 100400000 106368585 Deletion Ocular 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
Show member pathways
11.41 YAP1 PAX6 FZD5 ELP4
2 11.29 PAX6 FZD5 CDON

GO Terms for Coloboma of Macula

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.87 YAP1 SALL2 PAX6 PAX2 FZD5 CHD7
2 visual perception GO:0007601 9.71 RBP4 PAX6 PAX2 CRYAA
3 camera-type eye development GO:0043010 9.54 PAX6 PAX2 CHD7
4 cell fate determination GO:0001709 9.46 PAX6 PAX2
5 embryonic camera-type eye morphogenesis GO:0048596 9.43 PAX6 FZD5
6 embryonic retina morphogenesis in camera-type eye GO:0060059 9.26 RBP4 CDON
7 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.16 YAP1 PAX2
8 eye development GO:0001654 9.13 SALL2 RBP4 PAX6
9 regulation of neurogenesis GO:0050767 8.8 YAP1 PAX6 CHD7

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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