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SCCD
MCID: SCH076
MIFTS: 44

Schnyder Corneal Dystrophy (SCCD)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Schnyder Corneal Dystrophy

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MalaCards integrated aliases for Schnyder Corneal Dystrophy:

Name: Schnyder Corneal Dystrophy 57 12 53 75 37 15
Schnyder Crystalline Corneal Dystrophy 57 12 53 75 29 6 73
Sccd 57 12 53 75
Corneal Dystrophy, Schnyder Type 57 75 13
Corneal Dystrophy, Crystalline, of Schnyder 57 44
Corneal Dystrophy Crystalline of Schnyder 12 53
Hereditary Crystalline Stromal Dystrophy of Schnyder 12
Dystrophy, Corneal, Crystalline, Schnyder 40
Crystalline Stromal Dystrophy 12
Corneal Dystrophy, Schnyder 57
Scd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
schnyder corneal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 121800
Disease Ontology 12 DOID:0060456
SNOMED-CT 68 39662004
MedGen 42 C0271287
KEGG 37 H00959
SNOMED-CT via HPO 69 263681008 5587004 419395007
UMLS 73 C0271287
Sources

Summaries for Schnyder Corneal Dystrophy

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98967Disease definitionSchnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.EpidemiologyThe prevalence of this form of corneal dystrophy is not known.Clinical descriptionLesions usually develop early in life and are mostly bilateral, but one eye may become affected prior to the other. Some patients complain of glare, which increases with age. Visual acuity gradually decreases. Associated systemic disorders have been commonly reported (hypercholesterolemia, arcus lipoides and genu valgum). Over time, small white opacities develop in the corneal stroma along with a diffuse haze. In about 50% of patients, crystals are not observed clinically.EtiologySCD is caused by various mutations in the UBIAD1 gene (1p36.22).Diagnostic methodsTypically, a ring-shaped yellow-white opacity composed of innumerable fine needle-shaped crystals forms in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.Differential diagnosisSCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term).Genetic counselingAn autosomal dominant pattern of inheritance has been reported.Management and treatmentThe superficial pathologic corneal tissue needs to be excised.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schnyder Corneal Dystrophy, also known as schnyder crystalline corneal dystrophy, is related to sickle cell disease and carnitine deficiency, systemic primary. An important gene associated with Schnyder Corneal Dystrophy is UBIAD1 (UbiA Prenyltransferase Domain Containing 1), and among its related pathways/superpathways are Lipoprotein metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye, liver and heart, and related phenotypes are corneal dystrophy and crystalline corneal dystrophy

OMIM : 57 Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). (121800)

UniProtKB/Swiss-Prot : 75 Corneal dystrophy, Schnyder type: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.

Sources

Related Diseases for Schnyder Corneal Dystrophy

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Diseases related to Schnyder Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 sickle cell disease 12.2
2 carnitine deficiency, systemic primary 11.7
3 superior semicircular canal dehiscence 11.6
4 cardiac conduction defect 11.4
5 sickle cell anemia 11.3
6 qt interval, variation in 11.3
7 ehlers-danlos syndrome, spondylodysplastic type, 3 11.3
8 diabetes mellitus, noninsulin-dependent 11.2
9 fanconi anemia, complementation group d2 11.2
10 body mass index quantitative trait locus 11 11.2
11 lipodystrophy, congenital generalized, type 3 11.2
12 lipodystrophy, congenital generalized, type 4 11.2
13 reye syndrome 11.2
14 fanconi anemia, complementation group a 11.0
15 hemoglobinopathy 11.0
16 subacute cerebellar degeneration 11.0
17 semicircular canal dehiscence syndrome 11.0
18 corneal dystrophy 10.9
19 hypertrophic cardiomyopathy 10.3
20 stromal dystrophy 10.3
21 renal oncocytoma 10.2
22 familial lcat deficiency 10.2 APOE APOA2
23 xanthoma disseminatum 10.1 APOE APOB
24 hypercholesterolemia, autosomal dominant, type b 10.1 APOE APOB
25 defective apolipoprotein b-100 10.1 APOE APOB
26 huntington disease-like 1 10.1 APOE APOB
27 hyperlipoproteinemia, type v 10.1 APOE APOB
28 sea-blue histiocyte disease 10.1 APOE APOB
29 hyperlipidemia, familial combined 10.1 APOB APOA2
30 homozygous familial hypercholesterolemia 10.1 APOE APOB
31 hyperlipoproteinemia, type iv 10.1 APOB APOA2
32 ischemic heart disease 10.1 APOE APOB
33 hypertriglyceridemia, familial 10.1 APOE APOB
34 hypoalphalipoproteinemia, primary 10.1 APOB APOA2
35 xanthomatosis 10.1 APOE APOB
36 hyperlipoproteinemia, type iii 10.1 APOE APOB
37 coronary stenosis 10.1 APOE APOB
38 spinal stenosis 10.0
39 infertility 10.0
40 spinocerebellar degeneration 10.0
41 carotid artery disease 10.0 APOE APOB
42 lipoprotein glomerulopathy 10.0 APOE APOB APOA2
43 leukodystrophy, hypomyelinating, 3 10.0 APOE APOB APOA2
44 hypolipoproteinemia 10.0 APOE APOB APOA2
45 abetalipoproteinemia 10.0 APOE APOB
46 hyperalphalipoproteinemia 1 10.0 APOE APOB APOA2
47 lecithin:cholesterol acyltransferase deficiency 10.0 APOE APOB APOA2
48 tangier disease 10.0 APOE APOB APOA2
49 coronary heart disease 1 10.0 APOE APOB APOA2
50 hypercholesterolemia, familial 10.0 APOE APOB APOA2

Graphical network of the top 20 diseases related to Schnyder Corneal Dystrophy:



Diseases related to Schnyder Corneal Dystrophy
Sources

Symptoms & Phenotypes for Schnyder Corneal Dystrophy

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Symptoms via clinical synopsis from OMIM:

57
Eyes:
crystalline corneal dystrophy
cloudy central cornea


Clinical features from OMIM:

121800

Human phenotypes related to Schnyder Corneal Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 crystalline corneal dystrophy 32 HP:0007760
Sources

Drugs & Therapeutics for Schnyder Corneal Dystrophy

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Search Clinical Trials , NIH Clinical Center for Schnyder Corneal Dystrophy

Cochrane evidence based reviews: corneal dystrophy, crystalline, of schnyder

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Genetic Tests for Schnyder Corneal Dystrophy

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Genetic tests related to Schnyder Corneal Dystrophy:

# Genetic test Affiliating Genes
1 Schnyder Crystalline Corneal Dystrophy 29 UBIAD1
Sources

Anatomical Context for Schnyder Corneal Dystrophy

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MalaCards organs/tissues related to Schnyder Corneal Dystrophy:

41
Eye, Liver, Heart, Prostate
Sources

Publications for Schnyder Corneal Dystrophy

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Articles related to Schnyder Corneal Dystrophy:

(show all 29)
# Title Authors Year
1
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. ( 29319599 )
2018
2
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. ( 29977031 )
2018
3
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. ( 30084067 )
2018
4
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. ( 30223810 )
2018
5
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. ( 28872183 )
2017
6
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. ( 27382485 )
2016
7
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy. ( 24608252 )
2014
8
A case of Schnyder corneal dystrophy with crystals. ( 24121409 )
2013
9
Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy. ( 22411127 )
2012
10
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. ( 22065921 )
2011
11
Differential diagnosis of Schnyder corneal dystrophy. ( 21540632 )
2011
12
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). ( 21572737 )
2011
13
Evidence of oxidative stress in Schnyder corneal dystrophy. ( 20530186 )
2010
14
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. ( 20489584 )
2010
15
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. ( 20505825 )
2010
16
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. ( 19429578 )
2009
17
Schnyder corneal dystrophy. ( 19398911 )
2009
18
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. ( 19649163 )
2009
19
More on Schnyder corneal dystrophy. ( 19883857 )
2009
20
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. ( 18176953 )
2008
21
Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy. ( 18618004 )
2008
22
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. ( 17960116 )
2007
23
Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). ( 18427632 )
2007
24
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. ( 17668063 )
2007
25
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. ( 17962451 )
2007
26
Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. ( 16163269 )
2005
27
Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy. ( 15084868 )
2004
28
In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. ( 10328394 )
1999
29
Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. ( 8190477 )
1994
Sources

Variations for Schnyder Corneal Dystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Schnyder Corneal Dystrophy:

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 UBIAD1 p.Asn102Ser VAR_043714 rs118203945
2 UBIAD1 p.Asp112Gly VAR_043715 rs118203950
3 UBIAD1 p.Asp118Gly VAR_043716
4 UBIAD1 p.Arg119Gly VAR_043717 rs118203947
5 UBIAD1 p.Leu121Phe VAR_043718
6 UBIAD1 p.Ser171Pro VAR_043719 rs118203951
7 UBIAD1 p.Thr175Ile VAR_043720 rs118203948
8 UBIAD1 p.Gly177Arg VAR_043721 rs118203946
9 UBIAD1 p.Gly186Arg VAR_043722 rs118203952
10 UBIAD1 p.Asn232Ser VAR_043723 rs118203949
11 UBIAD1 p.Asp236Glu VAR_043724 rs118203953
12 UBIAD1 p.Ala97Thr VAR_064337
13 UBIAD1 p.Gly98Ser VAR_064338
14 UBIAD1 p.Asp112Asn VAR_064339
15 UBIAD1 p.Val122Glu VAR_064340
16 UBIAD1 p.Val122Gly VAR_064341
17 UBIAD1 p.Leu188His VAR_064342
18 UBIAD1 p.Asp240Asn VAR_064343 rs371811409
19 UBIAD1 p.Gly177Glu VAR_069267 rs397514669

ClinVar genetic disease variations for Schnyder Corneal Dystrophy:

6 (show top 50) (show all 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBIAD1 NM_013319.2(UBIAD1): c.305A> G (p.Asn102Ser) single nucleotide variant Pathogenic rs118203945 GRCh37 Chromosome 1, 11333893: 11333893
2 UBIAD1 NM_013319.2(UBIAD1): c.305A> G (p.Asn102Ser) single nucleotide variant Pathogenic rs118203945 GRCh38 Chromosome 1, 11273836: 11273836
3 UBIAD1 NM_013319.2(UBIAD1): c.529G> C (p.Gly177Arg) single nucleotide variant Pathogenic rs118203946 GRCh37 Chromosome 1, 11334117: 11334117
4 UBIAD1 NM_013319.2(UBIAD1): c.529G> C (p.Gly177Arg) single nucleotide variant Pathogenic rs118203946 GRCh38 Chromosome 1, 11274060: 11274060
5 UBIAD1 NM_013319.2(UBIAD1): c.355A> G (p.Arg119Gly) single nucleotide variant Pathogenic rs118203947 GRCh37 Chromosome 1, 11333943: 11333943
6 UBIAD1 NM_013319.2(UBIAD1): c.355A> G (p.Arg119Gly) single nucleotide variant Pathogenic rs118203947 GRCh38 Chromosome 1, 11273886: 11273886
7 UBIAD1 NM_013319.2(UBIAD1): c.524C> T (p.Thr175Ile) single nucleotide variant Pathogenic rs118203948 GRCh37 Chromosome 1, 11334112: 11334112
8 UBIAD1 NM_013319.2(UBIAD1): c.530G> A (p.Gly177Glu) single nucleotide variant Pathogenic rs397514669 GRCh37 Chromosome 1, 11345701: 11345701
9 UBIAD1 NM_013319.2(UBIAD1): c.530G> A (p.Gly177Glu) single nucleotide variant Pathogenic rs397514669 GRCh38 Chromosome 1, 11285644: 11285644
10 UBIAD1 NM_013319.2(UBIAD1): c.-337C> T single nucleotide variant Likely benign rs547031506 GRCh38 Chromosome 1, 11273195: 11273195
11 UBIAD1 NM_013319.2(UBIAD1): c.*2305C> T single nucleotide variant Likely benign rs573522173 GRCh37 Chromosome 1, 11348493: 11348493
12 UBIAD1 NM_013319.2(UBIAD1): c.*2305C> T single nucleotide variant Likely benign rs573522173 GRCh38 Chromosome 1, 11288436: 11288436
13 UBIAD1 NM_013319.2(UBIAD1): c.*1671G> A single nucleotide variant Likely benign rs544393884 GRCh38 Chromosome 1, 11287802: 11287802
14 UBIAD1 NM_013319.2(UBIAD1): c.*1671G> A single nucleotide variant Likely benign rs544393884 GRCh37 Chromosome 1, 11347859: 11347859
15 UBIAD1 NM_013319.2(UBIAD1): c.*1535A> T single nucleotide variant Uncertain significance rs536904644 GRCh38 Chromosome 1, 11287666: 11287666
16 UBIAD1 NM_013319.2(UBIAD1): c.*1535A> T single nucleotide variant Uncertain significance rs536904644 GRCh37 Chromosome 1, 11347723: 11347723
17 UBIAD1 NM_013319.2(UBIAD1): c.*969_*970insTTTG insertion Benign rs3063961 GRCh38 Chromosome 1, 11287100: 11287101
18 UBIAD1 NM_013319.2(UBIAD1): c.*969_*970insTTTG insertion Benign rs3063961 GRCh37 Chromosome 1, 11347157: 11347158
19 UBIAD1 NM_013319.2(UBIAD1): c.*847A> T single nucleotide variant Uncertain significance rs886045073 GRCh37 Chromosome 1, 11347035: 11347035
20 UBIAD1 NM_013319.2(UBIAD1): c.*847A> T single nucleotide variant Uncertain significance rs886045073 GRCh38 Chromosome 1, 11286978: 11286978
21 UBIAD1 NM_013319.2(UBIAD1): c.837C> T (p.Cys279=) single nucleotide variant Likely benign rs201111281 GRCh37 Chromosome 1, 11346008: 11346008
22 UBIAD1 NM_013319.2(UBIAD1): c.837C> T (p.Cys279=) single nucleotide variant Likely benign rs201111281 GRCh38 Chromosome 1, 11285951: 11285951
23 UBIAD1 NM_013319.2(UBIAD1): c.417C> T (p.Tyr139=) single nucleotide variant Likely benign rs377764711 GRCh37 Chromosome 1, 11334005: 11334005
24 UBIAD1 NM_013319.2(UBIAD1): c.417C> T (p.Tyr139=) single nucleotide variant Likely benign rs377764711 GRCh38 Chromosome 1, 11273948: 11273948
25 UBIAD1 NM_013319.2(UBIAD1): c.224C> T (p.Ser75Phe) single nucleotide variant Likely benign rs114000606 GRCh37 Chromosome 1, 11333812: 11333812
26 UBIAD1 NM_013319.2(UBIAD1): c.224C> T (p.Ser75Phe) single nucleotide variant Likely benign rs114000606 GRCh38 Chromosome 1, 11273755: 11273755
27 UBIAD1 NM_013319.2(UBIAD1): c.60A> C (p.Lys20Asn) single nucleotide variant Uncertain significance rs764215999 GRCh37 Chromosome 1, 11333648: 11333648
28 UBIAD1 NM_013319.2(UBIAD1): c.60A> C (p.Lys20Asn) single nucleotide variant Uncertain significance rs764215999 GRCh38 Chromosome 1, 11273591: 11273591
29 UBIAD1 NM_013319.2(UBIAD1): c.-47T> G single nucleotide variant Benign rs72856992 GRCh37 Chromosome 1, 11333542: 11333542
30 UBIAD1 NM_013319.2(UBIAD1): c.-47T> G single nucleotide variant Benign rs72856992 GRCh38 Chromosome 1, 11273485: 11273485
31 UBIAD1 NM_013319.2(UBIAD1): c.*2115C> G single nucleotide variant Uncertain significance rs886045085 GRCh37 Chromosome 1, 11348303: 11348303
32 UBIAD1 NM_013319.2(UBIAD1): c.*2115C> G single nucleotide variant Uncertain significance rs886045085 GRCh38 Chromosome 1, 11288246: 11288246
33 UBIAD1 NM_013319.2(UBIAD1): c.*1586C> T single nucleotide variant Uncertain significance rs886045081 GRCh38 Chromosome 1, 11287717: 11287717
34 UBIAD1 NM_013319.2(UBIAD1): c.*1586C> T single nucleotide variant Uncertain significance rs886045081 GRCh37 Chromosome 1, 11347774: 11347774
35 UBIAD1 NM_013319.2(UBIAD1): c.*1532C> T single nucleotide variant Benign rs77270119 GRCh38 Chromosome 1, 11287663: 11287663
36 UBIAD1 NM_013319.2(UBIAD1): c.*1532C> T single nucleotide variant Benign rs77270119 GRCh37 Chromosome 1, 11347720: 11347720
37 UBIAD1 NM_013319.2(UBIAD1): c.*675A> G single nucleotide variant Uncertain significance rs376227906 GRCh37 Chromosome 1, 11346863: 11346863
38 UBIAD1 NM_013319.2(UBIAD1): c.*675A> G single nucleotide variant Uncertain significance rs376227906 GRCh38 Chromosome 1, 11286806: 11286806
39 UBIAD1 NM_013319.2(UBIAD1): c.*612T> C single nucleotide variant Uncertain significance rs886045071 GRCh37 Chromosome 1, 11346800: 11346800
40 UBIAD1 NM_013319.2(UBIAD1): c.*612T> C single nucleotide variant Uncertain significance rs886045071 GRCh38 Chromosome 1, 11286743: 11286743
41 UBIAD1 NM_013319.2(UBIAD1): c.*531C> A single nucleotide variant Likely benign rs550736303 GRCh37 Chromosome 1, 11346719: 11346719
42 UBIAD1 NM_013319.2(UBIAD1): c.*531C> A single nucleotide variant Likely benign rs550736303 GRCh38 Chromosome 1, 11286662: 11286662
43 UBIAD1 NM_013319.2(UBIAD1): c.*465_*466delAG deletion Uncertain significance rs777958656 GRCh37 Chromosome 1, 11346653: 11346654
44 UBIAD1 NM_013319.2(UBIAD1): c.*465_*466delAG deletion Uncertain significance rs777958656 GRCh38 Chromosome 1, 11286596: 11286597
45 UBIAD1 NM_013319.2(UBIAD1): c.*420C> T single nucleotide variant Likely benign rs112789142 GRCh37 Chromosome 1, 11346608: 11346608
46 UBIAD1 NM_013319.2(UBIAD1): c.*420C> T single nucleotide variant Likely benign rs112789142 GRCh38 Chromosome 1, 11286551: 11286551
47 UBIAD1 NM_013319.2(UBIAD1): c.*239G> A single nucleotide variant Uncertain significance rs766089759 GRCh37 Chromosome 1, 11346427: 11346427
48 UBIAD1 NM_013319.2(UBIAD1): c.*239G> A single nucleotide variant Uncertain significance rs766089759 GRCh38 Chromosome 1, 11286370: 11286370
49 UBIAD1 NM_013319.2(UBIAD1): c.*148A> G single nucleotide variant Likely benign rs11580061 GRCh37 Chromosome 1, 11346336: 11346336
50 UBIAD1 NM_013319.2(UBIAD1): c.*148A> G single nucleotide variant Likely benign rs11580061 GRCh38 Chromosome 1, 11286279: 11286279
Sources

Expression for Schnyder Corneal Dystrophy

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Search GEO for disease gene expression data for Schnyder Corneal Dystrophy.
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Pathways for Schnyder Corneal Dystrophy

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Pathways related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lipoprotein metabolism 66
Show member pathways
 12.03 APOA2 APOB APOE
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 11.87 APOA2 APOB APOE UBIAD1
3
Platelet homeostasis 66
Show member pathways
 11.71 APOB ATP2B4 SLC8A3
4
Statin Pathway 1
Show member pathways
 11.4 APOA2 APOB APOE
5
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.25 APOA2 APOB APOE UBIAD1
Sources

GO Terms for Schnyder Corneal Dystrophy

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Cellular components related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.81 APOB CLSTN1 SLC8A3 UBIAD1
2 endoplasmic reticulum GO:0005783 9.8 APOB APOE CLSTN1 SLC8A3 UBIAD1
3 glutamatergic synapse GO:0098978 9.67 APOE ATP2B4 CLSTN1
4 endoplasmic reticulum lumen GO:0005788 9.65 APOA2 APOB APOE
5 early endosome GO:0005769 9.63 APOA2 APOB APOE
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 APOB APOE
7 high-density lipoprotein particle GO:0034364 9.37 APOA2 APOE
8 endocytic vesicle lumen GO:0071682 9.32 APOB APOE
9 low-density lipoprotein particle GO:0034362 9.26 APOB APOE
10 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
11 very-low-density lipoprotein particle GO:0034361 9.13 APOA2 APOB APOE
12 chylomicron GO:0042627 8.8 APOA2 APOB APOE
13 plasma membrane GO:0005886 10.07 APOB APOE ATP2B4 CLSTN1 KCNJ15 KCNJ9

Biological processes related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 ATP2B4 KCNJ15 KCNJ9 SLC8A3
2 post-translational protein modification GO:0043687 9.83 APOA2 APOB APOE
3 cellular protein metabolic process GO:0044267 9.8 APOA2 APOB APOE
4 lipid transport GO:0006869 9.76 APOA2 APOB APOE
5 cellular calcium ion homeostasis GO:0006874 9.72 APOE ATP2B4 SLC8A3
6 cholesterol homeostasis GO:0042632 9.69 APOA2 APOB APOE
7 flagellated sperm motility GO:0030317 9.65 APOB ATP2B4
8 potassium ion import across plasma membrane GO:1990573 9.65 KCNJ15 KCNJ9
9 cholesterol metabolic process GO:0008203 9.65 APOA2 APOB APOE
10 regulation of cardiac conduction GO:1903779 9.64 ATP2B4 SLC8A3
11 potassium ion import GO:0010107 9.64 KCNJ15 KCNJ9
12 triglyceride metabolic process GO:0006641 9.63 APOA2 APOE
13 cholesterol transport GO:0030301 9.62 APOA2 APOB
14 triglyceride catabolic process GO:0019433 9.61 APOB APOE
15 artery morphogenesis GO:0048844 9.61 APOB APOE
16 reverse cholesterol transport GO:0043691 9.6 APOA2 APOE
17 high-density lipoprotein particle remodeling GO:0034375 9.59 APOA2 APOE
18 high-density lipoprotein particle assembly GO:0034380 9.58 APOA2 APOE
19 retinoid metabolic process GO:0001523 9.58 APOA2 APOB APOE
20 phospholipid efflux GO:0033700 9.57 APOA2 APOE
21 high-density lipoprotein particle clearance GO:0034384 9.56 APOA2 APOE
22 calcium ion import across plasma membrane GO:0098703 9.54 ATP2B4 SLC8A3
23 positive regulation of cholesterol esterification GO:0010873 9.52 APOA2 APOE
24 cholesterol efflux GO:0033344 9.5 APOA2 APOB APOE
25 chylomicron remnant clearance GO:0034382 9.49 APOB APOE
26 lipoprotein biosynthetic process GO:0042158 9.46 APOB APOE
27 very-low-density lipoprotein particle clearance GO:0034447 9.43 APOB APOE
28 lipoprotein metabolic process GO:0042157 9.43 APOA2 APOB APOE
29 lipoprotein catabolic process GO:0042159 9.37 APOB APOE
30 low-density lipoprotein particle remodeling GO:0034374 9.33 APOA2 APOB APOE
31 chylomicron assembly GO:0034378 9.13 APOA2 APOB APOE
32 chylomicron remodeling GO:0034371 8.8 APOA2 APOB APOE

Molecular functions related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.65 APOA2 APOB APOE
2 phospholipid binding GO:0005543 9.5 APOA2 APOB APOE
3 amyloid-beta binding GO:0001540 9.49 APOE CLSTN1
4 cholesterol binding GO:0015485 9.46 APOA2 APOE
5 antioxidant activity GO:0016209 9.43 APOE UBIAD1
6 low-density lipoprotein particle receptor binding GO:0050750 9.4 APOB APOE
7 inward rectifier potassium channel activity GO:0005242 9.37 KCNJ15 KCNJ9
8 G-protein activated inward rectifier potassium channel activity GO:0015467 9.26 KCNJ15 KCNJ9
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA2 APOE
10 lipid transporter activity GO:0005319 9.13 APOA2 APOB APOE
11 cholesterol transporter activity GO:0017127 8.8 APOA2 APOB APOE
Sources

Sources for Schnyder Corneal Dystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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