ECTOL1
MCID: ECT098
MIFTS: 39

Ectopia Lentis 1, Isolated, Autosomal Dominant (ECTOL1)

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

Aliases & Classifications for Ectopia Lentis 1, Isolated, Autosomal Dominant

MalaCards integrated aliases for Ectopia Lentis 1, Isolated, Autosomal Dominant:

Name: Ectopia Lentis 1, Isolated, Autosomal Dominant 57 72 70
Ectol1 57 12 72
Autosomal Dominant Isolated Ectopia Lentis 1 12 15
Ectopia Lentis, Familial 57 13

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ectopia lentis 1, isolated, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111150
OMIM® 57 129600
MeSH 44 D004479
SNOMED-CT via HPO 68 263681008 74969002
UMLS 70 C1851286 C3541518

Summaries for Ectopia Lentis 1, Isolated, Autosomal Dominant

OMIM® : 57 Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). (129600) (Updated 20-May-2021)

MalaCards based summary : Ectopia Lentis 1, Isolated, Autosomal Dominant, also known as ectol1, is related to ectopia lentis 2, isolated, autosomal recessive and lens position anomaly. An important gene associated with Ectopia Lentis 1, Isolated, Autosomal Dominant is FBN1 (Fibrillin 1), and among its related pathways/superpathways are HIV Life Cycle and O-linked glycosylation. Affiliated tissues include eye, skin and breast, and related phenotypes are ectopia lentis and integument

Disease Ontology : 12 An isolated ectopia lentis that has material basis in heterozygous mutation in the FBN1 gene on chromosome 15q21.

UniProtKB/Swiss-Prot : 72 Ectopia lentis 1, isolated, autosomal dominant: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

Related Diseases for Ectopia Lentis 1, Isolated, Autosomal Dominant

Diseases in the Isolated Ectopia Lentis family:

Ectopia Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases related to Ectopia Lentis 1, Isolated, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 ectopia lentis 2, isolated, autosomal recessive 29.0 THSD4 TGFBR2 SUOX FBN1 EGF CBSL
2 lens position anomaly 10.1 FBN1 ADAMTSL4
3 hyperlysinemia, type i 10.1 SUOX ADAMTSL4
4 megalocornea 10.0 FBN1 ADAMTS10
5 weill-marchesani syndrome 1 10.0 FBN1 ADAMTS10
6 primary congenital glaucoma 10.0 FBN1 ADAMTS10
7 encephalopathy, ethylmalonic 10.0 SUOX CBSL
8 subclavian artery aneurysm 9.9 TGFBR2 FBN1
9 tricuspid valve prolapse 9.9 TGFBR2 FBN1
10 loeys-dietz syndrome 5 9.9 TGFBR2 FBN1
11 hemophilia b 9.9 FBN1 EGF
12 heritable thoracic aortic disease 9.9 TGFBR2 FBN1
13 mitochondrial dna depletion syndrome 12b 9.9 TGFBR2 FBN1
14 loeys-dietz syndrome 3 9.9 TGFBR2 FBN1
15 loeys-dietz syndrome 4 9.9 TGFBR2 FBN1
16 arterial tortuosity syndrome 9.9 TGFBR2 FBN1
17 costello syndrome 9.9 FBN1 EGF
18 aortic valve insufficiency 9.9 TGFBR2 FBN1
19 loeys-dietz syndrome 2 9.9 TGFBR2 FBN1
20 lens disease 9.9 FBN1 ADAMTSL4
21 tracheal stenosis 9.9 FBN1 ADAMTSL4 ADAMTS10
22 tracheal disease 9.9 FBN1 ADAMTSL4 ADAMTS10
23 loeys-dietz syndrome 1 9.9 TGFBR2 FBN1
24 stiff skin syndrome 9.9 FBN1 ADAMTSL4 ADAMTS10
25 sulfite oxidase deficiency, isolated 9.8 SUOX ADAMTSL4 ADAMTS10
26 collagen disease 9.8 TGFBR2 FBN1
27 cutis laxa, autosomal dominant 1 9.8 TGFBR2 FBN1
28 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 FBN1
29 estrogen-receptor negative breast cancer 9.7 TGFBR2 EGF
30 craniosynostosis 9.7 TGFBR2 FBN1 ADAMTSL4
31 acromicric dysplasia 9.6 THSD4 FBN1 ADAMTSL4 ADAMTS10
32 geleophysic dysplasia 9.6 THSD4 FBN1 ADAMTSL4 ADAMTS10
33 weill-marchesani syndrome 9.6 THSD4 FBN1 ADAMTSL4 ADAMTS10
34 homocystinuria 9.6 SUOX FBN1 EGF CBSL
35 patent ductus arteriosus 1 9.6 TGFBR2 FBN1
36 isolated ectopia lentis 9.4 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
37 marfan syndrome 9.4 THSD4 TGFBR2 FBN1 EGF
38 cataract 9.4 TGFBR2 FBN1 EGF ADAMTSL4
39 lens subluxation 9.3 SUOX FBN1 CBSL ADAMTSL4 ADAMTS10

Graphical network of the top 20 diseases related to Ectopia Lentis 1, Isolated, Autosomal Dominant:



Diseases related to Ectopia Lentis 1, Isolated, Autosomal Dominant

Symptoms & Phenotypes for Ectopia Lentis 1, Isolated, Autosomal Dominant

Human phenotypes related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 31 HP:0001083

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ectopia lentis, isolated (congenital lens dislocation)

Clinical features from OMIM®:

129600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2

Drugs & Therapeutics for Ectopia Lentis 1, Isolated, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis 1, Isolated, Autosomal Dominant

Genetic Tests for Ectopia Lentis 1, Isolated, Autosomal Dominant

Anatomical Context for Ectopia Lentis 1, Isolated, Autosomal Dominant

MalaCards organs/tissues related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

40
Eye, Skin, Breast

Publications for Ectopia Lentis 1, Isolated, Autosomal Dominant

Articles related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

(show all 28)
# Title Authors PMID Year
1
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 57 6
22539873 2012
2
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 57 6
17657824 2007
3
Ectopia lentis phenotypes and the FBN1 gene. 57 6
15054843 2004
4
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 6 57
12446365 2002
5
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 6 57
11826022 2002
6
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 6 57
11700157 2001
7
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 57 6
7802039 1994
8
The revised ghent nosology; reclassifying isolated ectopia lentis. 57
24635535 2015
9
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 57
22736615 2012
10
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 57
20564469 2010
11
The revised Ghent nosology for the Marfan syndrome. 57
20591885 2010
12
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 6
20375004 2010
13
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 57
20141359 2010
14
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. 57
19353630 2009
15
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 6
17701892 2007
16
A novel mutation of the fibrillin gene causing ectopia lentis. 6
8188302 1994
17
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 6
8136837 1994
18
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. 57
1542340 1992
19
Isolated congenital ectopia lentis with autosomal dominant inheritance. 57
310371 1979
20
Weill-Marchesani syndrome. Brachymorphism and ectopia lentis. 57
5928829 1966
21
Familial ectopia lentis and its complications. 57
13149756 1954
22
Glaucoma associated with subluxation of the lens in several members of a family. 57
18872477 1948
23
Congenital bilateral subluxation of the lens; report of a family. 57
21012374 1945
24
Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases. 61
22921888 2012
25
Genetic disorders of the elastic fiber system. 61
11068201 2000
26
The molecular genetics of Marfan syndrome and related microfibrillopathies. 61
10633129 2000
27
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. 61
9401003 1997
28
A case report of supernumerary tooth and review of literature. 61
1741712 1991

Variations for Ectopia Lentis 1, Isolated, Autosomal Dominant

ClinVar genetic disease variations for Ectopia Lentis 1, Isolated, Autosomal Dominant:

6 (show top 50) (show all 248)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) SNV Pathogenic 16437 rs137854464 GRCh37: 15:48717680-48717680
GRCh38: 15:48425483-48425483
2 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
3 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
4 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
5 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
6 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
7 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
8 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
9 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
10 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
11 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
12 FBN1 NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) SNV Pathogenic 39667 rs397514558 GRCh37: 15:48782210-48782210
GRCh38: 15:48490013-48490013
13 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
14 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
15 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
16 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
17 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
18 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
19 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
20 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
21 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
22 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
23 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
24 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
25 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
26 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
27 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
28 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 GRCh37: 15:48787397-48787397
GRCh38: 15:48495200-48495200
29 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 GRCh37: 15:48789550-48789550
GRCh38: 15:48497353-48497353
30 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 GRCh37: 15:48826346-48826346
GRCh38: 15:48534149-48534149
31 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 GRCh37: 15:48936798-48936798
GRCh38: 15:48644601-48644601
32 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 GRCh37: 15:48936884-48936884
GRCh38: 15:48644687-48644687
33 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 GRCh37: 15:48703571-48703571
GRCh38: 15:48411374-48411374
34 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 GRCh37: 15:48707757-48707757
GRCh38: 15:48415560-48415560
35 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 GRCh37: 15:48707932-48707932
GRCh38: 15:48415735-48415735
36 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 GRCh37: 15:48760155-48760155
GRCh38: 15:48467958-48467958
37 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) SNV Uncertain significance 501654 rs368650399 GRCh37: 15:48762932-48762932
GRCh38: 15:48470735-48470735
38 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) SNV Uncertain significance 42355 rs201273753 GRCh37: 15:48764814-48764814
GRCh38: 15:48472617-48472617
39 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Uncertain significance 16451 rs137854475 GRCh37: 15:48779352-48779352
GRCh38: 15:48487155-48487155
40 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) SNV Uncertain significance 495593 rs144339604 GRCh37: 15:48779510-48779510
GRCh38: 15:48487313-48487313
41 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) SNV Uncertain significance 199947 rs138438849 GRCh37: 15:48782196-48782196
GRCh38: 15:48489999-48489999
42 FBN1 NM_000138.4(FBN1):c.8138A>G (p.Glu2713Gly) SNV Uncertain significance 548587 rs1555393658 GRCh37: 15:48704854-48704854
GRCh38: 15:48412657-48412657
43 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 GRCh37: 15:48756163-48756163
GRCh38: 15:48463966-48463966
44 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 GRCh37: 15:48760729-48760729
GRCh38: 15:48468532-48468532
45 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837
46 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) SNV Uncertain significance 549070 rs1555399361 GRCh37: 15:48789469-48789469
GRCh38: 15:48497272-48497272
47 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 36074 rs61730054 GRCh37: 15:48762849-48762849
GRCh38: 15:48470652-48470652
48 FBN1 NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) SNV Uncertain significance 849304 GRCh37: 15:48717659-48717659
GRCh38: 15:48425462-48425462
49 FBN1 NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) SNV Uncertain significance 161234 rs143863014 GRCh37: 15:48718025-48718025
GRCh38: 15:48425828-48425828
50 FBN1 NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) SNV Uncertain significance 884560 GRCh37: 15:48720552-48720552
GRCh38: 15:48428355-48428355

UniProtKB/Swiss-Prot genetic disease variations for Ectopia Lentis 1, Isolated, Autosomal Dominant:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Arg545Cys VAR_002284 rs730880099
2 FBN1 p.Asp1155Asn VAR_002317 rs794728204
3 FBN1 p.Glu2447Lys VAR_002342 rs137854464
4 FBN1 p.Ser115Cys VAR_017970
5 FBN1 p.Arg240Cys VAR_017972 rs137854480
6 FBN1 p.Cys661Tyr VAR_017981 rs106050108
7 FBN1 p.Arg1530Cys VAR_018012 rs111401431
8 FBN1 p.Pro2154Arg VAR_018030 rs756219617
9 FBN1 p.Cys2339Tyr VAR_018035 rs155539458
10 FBN1 p.Tyr63Cys VAR_075987 rs130338943
11 FBN1 p.Cys68Ser VAR_075988 rs113604459
12 FBN1 p.Cys365Trp VAR_076004
13 FBN1 p.Cys596Arg VAR_076015
14 FBN1 p.Ser634Pro VAR_076017 rs156691400
15 FBN1 p.Ala882Val VAR_076029 rs794728195
16 FBN1 p.Glu2250Gly VAR_076130
17 FBN1 p.Tyr2272Cys VAR_076132
18 FBN1 p.Cys2448Arg VAR_076141 rs156689275

Expression for Ectopia Lentis 1, Isolated, Autosomal Dominant

Search GEO for disease gene expression data for Ectopia Lentis 1, Isolated, Autosomal Dominant.

Pathways for Ectopia Lentis 1, Isolated, Autosomal Dominant

GO Terms for Ectopia Lentis 1, Isolated, Autosomal Dominant

Cellular components related to Ectopia Lentis 1, Isolated, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 THSD4 FBN1 ADAMTSL4 ADAMTS10
2 extracellular matrix GO:0031012 9.26 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 microfibril GO:0001527 8.8 THSD4 FBN1 ADAMTS10

Biological processes related to Ectopia Lentis 1, Isolated, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 THSD4 FBN1 ADAMTSL4 ADAMTS10

Molecular functions related to Ectopia Lentis 1, Isolated, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 8.8 THSD4 ADAMTSL4 ADAMTS10

Sources for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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