MCID: OPT001
MIFTS: 40

Optic Disk Drusen

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Optic Disk Drusen

MalaCards integrated aliases for Optic Disk Drusen:

Name: Optic Disk Drusen 12 45 15 74
Optic Disc Drusen 77 30 6
Optic Nerve Head Drusen 12
Drusen of Optic Disc 12
Drusen Optic Disc 56

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD9CM 36 377.21
MeSH 45 D015594
SNOMED-CT 69 33629003
ICD10 34 H47.32
UMLS 74 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary : Optic Disk Drusen, also known as optic disc drusen, is related to macular dystrophy, dominant cystoid and angioid streaks. An important gene associated with Optic Disk Drusen is RHO (Rhodopsin), and among its related pathways/superpathways are Heart Development and NOTCH1 regulation of human endothelial cell calcification. The drugs Coal tar and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and colon, and related phenotype is nervous system.

Wikipedia : 77 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

Related Diseases for Optic Disk Drusen

Diseases related to Optic Disk Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 85, show less)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, dominant cystoid 30.6 MFRP VEGFA
2 angioid streaks 30.5 ABCC6 VEGFA
3 macular retinal edema 30.4 KCNMA1 MFRP VEGFA
4 yemenite deaf-blind hypopigmentation syndrome 30.2 RHO VEGFA
5 neuroretinitis 30.1 UBL4A VEGFA
6 optic nerve disease 30.0 CCNDBP1 MFRP UBL4A
7 microphthalmia, isolated 5 12.2
8 pseudopapilledema 11.7
9 papilledema 10.4
10 elastosis perforans serpiginosa 10.3 ABCC6 ELN
11 retinitis pigmentosa 19 10.3 KCNMA1 RHO
12 cancer-associated retinopathy 10.3 RHO VEGFA
13 vitreous detachment 10.3 KCNMA1 VEGFA
14 wrinkles 10.3 ELN VEGFA
15 cataract 10.2
16 coloboma of macula 10.2
17 pseudoxanthoma elasticum 10.2
18 microphthalmia 10.2
19 fundus dystrophy 10.2 ELN MFRP RHO
20 chorioretinal scar 10.2 ABCC6 NOTCH1 RHO
21 coats disease 10.2 RHO VEGFA
22 macular holes 10.1 KCNMA1 VEGFA
23 aortic valve insufficiency 10.1 ELN NOTCH1
24 acute retrobulbar neuritis 10.1 RHO UBL4A
25 melanoma, uveal 10.1
26 intracranial hypertension, idiopathic 10.1
27 oliver syndrome 10.1
28 nonarteritic anterior ischemic optic neuropathy 10.1
29 retinitis pigmentosa 10.1
30 leber congenital amaurosis 4 10.1
31 nanophthalmos 2 10.1
32 glycogen storage disease 10.1
33 ischemic optic neuropathy 10.1
34 adams-oliver syndrome 10.1
35 branch retinal artery occlusion 10.1
36 central retinal artery occlusion 10.1
37 poems syndrome 10.1
38 melanoma 10.1
39 retinitis 10.1
40 retinal artery occlusion 10.1
41 neuropathy 10.1
42 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
44 leber congenital amaurosis 10.1
45 retinal vein occlusion 10.1
46 vitelliform macular dystrophy 10.1
47 malignant hypertension 10.1
48 neovascular glaucoma 10.1
49 calcinosis 10.1
50 central retinal vein occlusion 10.1
51 cowden syndrome 10.1
52 intracranial hypertension 10.1
53 best vitelliform macular dystrophy 10.1
54 central serous chorioretinopathy 10.1
55 familial tumoral calcinosis 10.1
56 combined hamartoma of the retina and retinal pigment epithelium 10.1
57 ataxia-telangiectasia 10.1
58 joubert syndrome 1 10.1
59 3-methylglutaconic aciduria, type iii 10.1
60 gyrate atrophy of choroid and retina 10.1
61 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
62 open-angle glaucoma 10.1
63 optic neuritis 10.1
64 telangiectasis 10.1
65 neuritis 10.1
66 vasculitis 10.1
67 scotoma 10.1
68 chromosomal triplication 10.1
69 farsightedness 10.1
70 megalencephaly 10.1
71 macular degeneration, age-related, 1 10.0 KCNMA1 RHO VEGFA
72 senile ectropion 10.0 ELN KANTR
73 functional colonic disease 10.0 KANTR KCNMA1
74 substernal goiter 10.0 KANTR NOTCH1
75 subclavian steal syndrome 10.0 KANTR NOTCH1
76 petroclival meningioma 9.9 KANTR NOTCH1
77 tetralogy of fallot 9.9 NOTCH1 TBX1 VEGFA
78 brachial plexus neuritis 9.9 KANTR NOTCH1
79 sciatic neuropathy 9.9 KANTR NOTCH1
80 chromosomal deletion syndrome 9.9 ELN TBX1
81 dystonia 1, torsion, autosomal dominant 9.8 KANTR NOTCH1
82 colonic pseudo-obstruction 9.8 KANTR KCNMA1
83 nervous system disease 9.7 KANTR MFRP RHO VEGFA
84 cranial nerve disease 9.7 KANTR MFRP UBL4A
85 heart disease 9.6 ELN NOTCH1 TBX1 VEGFA

Graphical network of the top 20 diseases related to Optic Disk Drusen:



Diseases related to Optic Disk Drusen

Symptoms & Phenotypes for Optic Disk Drusen

MGI Mouse Phenotypes related to Optic Disk Drusen:

47 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 INSC KCNMA1 MFRP NOTCH1 RHO SLC37A4

Drugs & Therapeutics for Optic Disk Drusen

Drugs for Optic Disk Drusen (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 1, Phase 2 8007-45-2
2 Anesthetics Phase 1, Phase 2

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
2 Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY) Completed NCT02793206
3 Video Diversion During Fundoscopic Exam in Children Completed NCT01673815 Not Applicable
4 Systematic Imaging Examination in ODD Recruiting NCT03957642

Search NIH Clinical Center for Optic Disk Drusen

Cochrane evidence based reviews: optic disk drusen

Genetic Tests for Optic Disk Drusen

Genetic tests related to Optic Disk Drusen:

# Genetic test Affiliating Genes
1 Optic Disc Drusen 30

Anatomical Context for Optic Disk Drusen

MalaCards organs/tissues related to Optic Disk Drusen:

42
Retina, Eye, Colon, Heart, Tongue

Publications for Optic Disk Drusen

Articles related to Optic Disk Drusen:

(showing 147, show less)
# Title Authors Year
1
The Influence of Volume and Anatomic Location of Optic Disc Drusen on the Sensitivity of Autofluorescence. ( 29649006 )
2019
2
Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept. ( 30642868 )
2019
3
Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis. ( 30367617 )
2018
4
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). ( 31047555 )
2018
5
Optic Disc Drusen in Children: The Copenhagen Child Cohort 2000 Eye Study. ( 28841585 )
2018
6
The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. ( 29095768 )
2018
7
Retrobulbar axonal degeneration due to optic disc drusen. ( 29280548 )
2018
8
Optic disc drusen: understanding an old problem from a new perspective. ( 29659172 )
2018
9
Factors associated with visual field defects of optic disc drusen. ( 29708976 )
2018
10
Peripapillary Hyperreflective Ovoid Mass-Like Structures: Is It Optic Disc Drusen or Not? ( 29901492 )
2018
11
Peripapillary Hyperreflective Ovoid Mass-Like Structures: Is It Optic Disc Drusen or Not?: Response. ( 29901493 )
2018
12
The Role of Optical Coherence Tomography in Differentiating Optic Disc Drusen from Optic Disc Edema. ( 29998632 )
2018
13
Chiari 1 malformation with optic disc drusen. ( 30042799 )
2018
14
A Review of Optic Disc Drusen in Children. ( 30239364 )
2018
15
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. ( 28659124 )
2017
16
Choroidal neovascularization complicating optic disc drusen, mistaken for Bartonella neuroretinitis. ( 27730317 )
2017
17
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
18
Optic disc drusen: longitudinal aspects, with emphasis on visual field constriction and enlarged blind spot: a retrospective hospital-based clinical series. ( 27646322 )
2017
19
Long-term evolution of superficial optic disc drusen. ( 27996202 )
2017
20
Differentiation between optic disc drusen and optic disc oedema using fundus photography. ( 28084042 )
2017
21
Multifocal visual evoked potentials for quantifying optic nerve dysfunction in patients with optic disc drusen. ( 28139892 )
2017
22
Photographic Documentation of Optic Disc Drusen Over More Than 50 Years. ( 28278345 )
2017
23
Bilateral optic disc drusen mimicking papilloedema. ( 28404619 )
2017
24
Fundus autofluorescence in the buried optic disc drusen: optical coherence tomography findings. ( 28457302 )
2017
25
Quantitatively Measured Anatomic Location and Volume of Optic Disc Drusen: An Enhanced Depth Imaging Optical Coherence Tomography Study. ( 28460051 )
2017
26
Focal Capillary Dropout Associated With Optic Disc Drusen Using Optical Coherence Tomographic Angiography. ( 28520583 )
2017
27
Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey. ( 28991151 )
2017
28
Substantial Visual Field Loss Associated With Giant Optic Disc Drusen. ( 29242932 )
2017
29
Increased Prevalence of Optic Disc Drusen after Papilloedema from Idiopathic Intracranial Hypertension: On the Possible Formation of Optic Disc Drusen. ( 27928403 )
2016
30
PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE. ( 26444522 )
2016
31
Optic disk drusen in children. ( 27033945 )
2016
32
Optic disc drusen demonstrate a hyperechogenic artifact in B mode ultrasound. ( 26412252 )
2016
33
Peripapillary Retinal Nerve Fiber Layer Thickness Corresponds to Drusen Location and Extent of Visual Field Defects in Superficial and Buried Optic Disc Drusen. ( 26720518 )
2016
34
Optic Disc Drusen in a Pediatric Patient - Diagnosis and Counselling of Family. ( 27806825 )
2016
35
Imaging Methods in the Diagnosis of Optic Disc Drusen. ( 28058166 )
2016
36
Unilateral Acute Anterior Ischemic Optic Neuropathy in a Patient with an Already Established Diagnosis of Bilateral Optic Disc Drusen. ( 26550507 )
2015
37
Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome. ( 25383852 )
2015
38
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 26296786 )
2015
39
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome. ( 26043505 )
2015
40
Gyrate atrophy of the choroid and retina with cystoid macular edema and unilateral optic disc drusen. ( 25643373 )
2015
41
Optic disc drusen associated with optic nerve tumors. ( 25811268 )
2015
42
Case report of optic disc drusen with simultaneous peripapillary subretinal hemorrhage and central retinal vein occlusion. ( 25544921 )
2014
43
Radial optic neurotomy as a treatment for anterior ischemic optic neuropathy secondary to optic disc drusen. ( 27625940 )
2014
44
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 25266841 )
2014
45
Point-of-care ultrasonography for the identification of 2 children with optic disc drusen mimicking papilledema. ( 24987997 )
2014
46
Severe and acute loss of visual field in a young patient with optic disc drusen. ( 24360914 )
2014
47
Visual field loss in optic disc drusen patients correlates with central retinal artery blood velocity patterns. ( 24456173 )
2014
48
Retinal hemorrhages as one of complications of optic disc drusen during pregnancy. ( 25033580 )
2014
49
Optical coherence tomography demonstrating macular retinal nerve fiber thinning in advanced optic disc drusen. ( 25136235 )
2014
50
Disc edge veins of Kraupa associated with optic disc drusen. ( 27625942 )
2014
51
Visual field defects due to optic disk drusen in children. ( 23733034 )
2013
52
Sensitivity and specificity of monochromatic photography of the ocular fundus in differentiating optic nerve head drusen and optic disc oedema: optic disc drusen and oedema. ( 23212800 )
2013
53
Acute visual loss in a patient with optic disc drusen. ( 23658477 )
2013
54
Multimodal imaging of optic disc drusen. ( 23677136 )
2013
55
Optic disc drusen in a child: diagnosis using noninvasive imaging tools. ( 24064526 )
2013
56
Retrobulbar blood flow and visual organ function disturbance in the course of giant cell arteritis coexisting with optic disc drusen - a case report. ( 26673284 )
2013
57
Nonarteritic anterior ischemic optic neuropathy in a child with optic disk drusen. ( 22525184 )
2012
58
Simultaneous papilledema and optic disc drusen in a child. ( 22353297 )
2012
59
Bilateral optic disc drusen mimicking papilledema. ( 22787500 )
2012
60
Fluorescein angiographic identification of optic disc drusen with and without optic disc edema. ( 21926917 )
2012
61
Diagnostic uncertainty due to optic disc drusen. ( 22297266 )
2012
62
Ophthalmic features of optic disc drusen. ( 22584542 )
2012
63
A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. ( 23077403 )
2012
64
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
65
Development of optic disc drusen in familial pseudopapilloedema: a paediatric case series. ( 21546918 )
2011
66
A case of a young asymptomatic woman with optic disc drusen and vasculitis. ( 21829407 )
2011
67
An atypical case of optic disk drusen with nerve fiber layer thickening. ( 28539765 )
2010
68
Optic disc drusen masquerading as papilloedema. ( 20522468 )
2010
69
Do Optic Disc Drusen Cause Unilateral Nyctalopia? ( 21103201 )
2010
70
Acquired myelinated nerve fibers in association with optic disk drusen. ( 21094066 )
2010
71
Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen. ( 19172506 )
2009
72
Refraction and the axial length of the eyeball in patients with the optic disc drusen. ( 19517843 )
2009
73
Prevalence of optic disc drusen in an adult Chinese population: the Beijing Eye Study. ( 18537931 )
2009
74
The effects of optic disc drusen on the latency of the pattern-reversal checkerboard and multifocal visual evoked potentials. ( 19182248 )
2009
75
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. ( 18554571 )
2008
76
The Pulfrich phenomenon in optic disc drusen. ( 18303175 )
2008
77
Hemorrhagic complications of optic disc drusen and available treatment options. ( 18722960 )
2008
78
Distinguishing optic disc drusen from papilloedema. ( 19001007 )
2008
79
Optic disc drusen: complications and management. ( 17208669 )
2007
80
Acute visual field constriction in optic disc drusen: report of an unusual case. ( 18251452 )
2007
81
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. ( 17167404 )
2006
82
Pregnancy associated, optic disc drusen related visual loss. ( 16637854 )
2006
83
Vascular shunt of the optic disc resembling neovascularization in a diabetic patient with optic disc drusen. ( 17061234 )
2006
84
Coexistence of optic disc drusen and idiopathic intracranial hypertension in a child. ( 15309022 )
2005
85
Optic disc drusen associated with neovascularization of optic disc. ( 15359235 )
2005
86
Optic disc drusen in tilted disc. ( 16167298 )
2005
87
You're a flight surgeon: aeromedical decisions in a case of optic disc drusen. ( 16313148 )
2005
88
Optic disc drusen in tilted disc. ( 28221464 )
2005
89
Anterior ischemic optic neuropathy in eyes with optic disc drusen. ( 14718294 )
2004
90
Laser photocoagulation for choroidal neovascular membrane associated with optic disc drusen. ( 15043550 )
2004
91
Visual manifestations of visible and buried optic disc drusen. ( 15179065 )
2004
92
Progression from anomalous optic discs to visible optic disc drusen. ( 15662245 )
2004
93
Progressive visual failure in an eye with optic disc drusen and an orbital mass. ( 12616087 )
2003
94
Optic disc drusen. ( 12927436 )
2003
95
Optic disc drusen. ( 14597796 )
2003
96
Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. ( 11812439 )
2002
97
Optic disk drusen. ( 12504737 )
2002
98
Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family. ( 12271376 )
2002
99
Optic disc Drusen associated with trisomy 15q. ( 11907479 )
2002
100
Optic disc drusen and peripapillary subretinal neovascular membranes in children. ( 12458848 )
2002
101
Bilateral anterior ischaemic optic neuropathy due to optic disc drusen. ( 11192846 )
2000
102
Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. ( 10080224 )
1999
103
Anterior ischaemic optic neuropathy in a patient with optic disc drusen. ( 10379717 )
1999
104
Are optic disc drusen inherited? ( 10406605 )
1999
105
Central retinal artery occlusion and optic disc drusen. ( 9775256 )
1998
106
Retinal ganglion cell layer and visual function in a patient with optic disc drusen. ( 9865621 )
1998
107
Frequency of optic disc drusen and size of the optic disc. ( 9331188 )
1997
108
Complete circumvention of central retinal artery and venous cilioretinal shunts in optic disc drusen. ( 8859099 )
1996
109
Sonography in optic disk drusen. ( 7863921 )
1995
110
Imaging of optic disc drusen: a comparative study. ( 7713253 )
1995
111
Optic disc drusen and associated venous stasis retinopathy. ( 7714318 )
1995
112
Sonography in optic disk drusen: imaging findings and role in diagnosis when funduscopic findings are normal. ( 8273656 )
1994
113
Pigmented paravenous retinochoroidal atrophy (PPRCA) with optic disc drusen. ( 8345952 )
1993
114
Sudden visual field constriction associated with optic disc drusen. ( 8501268 )
1993
115
Is there an association between optic disc drusen and angioid streaks? ( 1427147 )
1992
116
Optic disc drusen and hypermetropia. ( 1818233 )
1991
117
Echographic evaluation of optic disc drusen. ( 1832690 )
1991
118
Relative afferent pupil defect associated with optic disc drusen. ( 1958373 )
1991
119
Central vision impairment from optic disk drusen in the young. ( 2079912 )
1990
120
Optic disc drusen and primary megalencephaly in children. ( 2709281 )
1989
121
Bilateral anterior ischaemic optic neuropathy associated with optic disc drusen and systemic hypotension. ( 2804033 )
1989
122
Optic disk drusen and pseudotumor cerebri. ( 2456017 )
1988
123
Optic disc drusen in children. ( 2457673 )
1988
124
Optic disc drusen and episodic visual loss. ( 3651367 )
1987
125
Appearance of optic disc drusen in a patient with anomalous elevation of the optic disc. ( 2424414 )
1986
126
Optic disc drusen and central vein occlusion. ( 3987493 )
1985
127
Decreased visual acuity from optic disc drusen. ( 4026645 )
1985
128
Ischemic optic neuropathy associated with optic disc drusen. ( 6233327 )
1984
129
Phoniatric and neurological findings in children with optic disc drusen. ( 6197350 )
1983
130
Neurological findings in patients with pseudopapilloedema with and without verified optic disc drusen. ( 6197858 )
1983
131
Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis I. ( 6659907 )
1983
132
Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis II: visual fields. ( 6659908 )
1983
133
Optic disc drusen. ( 6880641 )
1983
134
Optic disk drusen with central retinal artery occlusion. ( 7109330 )
1982
135
Case report. Optic disk drusen. ( 7076930 )
1982
136
Changes in optic disc drusen. Demonstration by stereophotographs and electronic subtraction. ( 6753452 )
1982
137
Retinal complications of optic disc drusen. ( 7059559 )
1982
138
Optic disc drusen--a photographic study. I. Autofluorescence pictures and fluorescein angiography. ( 7170930 )
1982
139
Optic disc drusen--a photographic study. II. Retinal nerve fibre layer photography. ( 7170931 )
1982
140
Electroretinogram (ERG) and visual evoked response (VER) studies in patients with optic disc drusen. ( 7211250 )
1980
141
Optic disc drusen in children. ( 193351 )
1977
142
Optic disc drusen and tumours of the chiasmal region. ( 577090 )
1977
143
Autofluorescence of optic disc-drusen. ( 615663 )
1977
144
Neurological and developmental findings in children with optic disc drusen. ( 60729 )
1976
145
Clinical appearance of optic disc drusen in childhood. ( 1078948 )
1975
146
Optic disc drusen and subretinal hemorrhage. ( 4132982 )
1974
147
Optic disc drusen in children. ( 4130090 )
1973

Variations for Optic Disk Drusen

ClinVar genetic disease variations for Optic Disk Drusen:

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh38 Chromosome 2, 55870851: 55870851
2 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh37 Chromosome 2, 56097986: 56097986
3 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
4 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh38 Chromosome 3, 129532727: 129532727

Expression for Optic Disk Drusen

Search GEO for disease gene expression data for Optic Disk Drusen.

Pathways for Optic Disk Drusen

Pathways related to Optic Disk Drusen according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1 10.46 NOTCH1 TBX1 VEGFA
2 10.41 NOTCH1 VEGFA
3 10.19 NOTCH1 VEGFA

GO Terms for Optic Disk Drusen

Cellular components related to Optic Disk Drusen according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.92 ABCC6 KCNMA1 MFRP NOTCH1

Biological processes related to Optic Disk Drusen according to GeneCards Suite gene sharing:

(showing 19, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.75 ABCC6 MFRP RHO
2 mesoderm development GO:0007498 9.58 TBX1 VEGFA
3 positive regulation of epithelial cell proliferation GO:0050679 9.58 NOTCH1 TBX1 VEGFA
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.57 NOTCH1 VEGFA
5 sprouting angiogenesis GO:0002040 9.56 NOTCH1 VEGFA
6 branching morphogenesis of an epithelial tube GO:0048754 9.55 NOTCH1 VEGFA
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 TBX1 VEGFA
8 artery morphogenesis GO:0048844 9.52 TBX1 VEGFA
9 positive regulation of neuroblast proliferation GO:0002052 9.51 NOTCH1 VEGFA
10 aortic valve morphogenesis GO:0003180 9.49 ELN NOTCH1
11 cell fate specification GO:0001708 9.48 NOTCH1 TBX1
12 eye photoreceptor cell development GO:0042462 9.46 MFRP VEGFA
13 tube formation GO:0035148 9.43 NOTCH1 VEGFA
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.37 NOTCH1 VEGFA
15 cardiac vascular smooth muscle cell development GO:0060948 9.32 NOTCH1 VEGFA
16 vasculogenesis involved in coronary vascular morphogenesis GO:0060979 9.26 NOTCH1 SPRED1
17 outflow tract morphogenesis GO:0003151 9.26 ELN NOTCH1 TBX1 VEGFA
18 coronary vein morphogenesis GO:0003169 9.16 NOTCH1 VEGFA
19 coronary artery morphogenesis GO:0060982 8.8 NOTCH1 TBX1 VEGFA

Molecular functions related to Optic Disk Drusen according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.62 ELN VEGFA

Sources for Optic Disk Drusen

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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