ECTOL1
MCID: ECT098
MIFTS: 38

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 56 73 71
Ectol1 56 12 73
Autosomal Dominant Isolated Ectopia Lentis 1 12 15
Ectopia Lentis, Familial 56 13

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111150
OMIM 56 129600
MeSH 43 D004479
SNOMED-CT via HPO 68 263681008 74969002
UMLS 71 C1851286 C3541518

Summaries for Ectopia Lentis 1, Isolated, Autosomal Dominant

OMIM : 56 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)

MalaCards based summary : Ectopia Lentis 1, Isolated, Autosomal Dominant, also known as ectol1, is related to isolated ectopia lentis and marfan syndrome. 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 skin, 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 : 73 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 40)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 32.1 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2 marfan syndrome 29.2 THSD4 TGFBR2 FBN1 EGF
3 cataract 29.1 TGFBR2 FBN1 EGF ADAMTSL4
4 ectopia lentis 2, isolated, autosomal recessive 28.6 THSD4 TGFBR2 SUOX FBN1 EGF CBSL
5 tracheal disease 10.1 FBN1 ADAMTS10
6 megalocornea 10.1 FBN1 ADAMTS10
7 tricuspid valve prolapse 10.0 TGFBR2 FBN1
8 loeys-dietz syndrome 5 10.0 TGFBR2 FBN1
9 heritable thoracic aortic disease 10.0 TGFBR2 FBN1
10 primary congenital glaucoma 10.0 FBN1 ADAMTS10
11 loeys-dietz syndrome 3 10.0 TGFBR2 FBN1
12 loeys-dietz syndrome 4 10.0 TGFBR2 FBN1
13 costello syndrome 10.0 FBN1 EGF
14 arterial tortuosity syndrome 10.0 TGFBR2 FBN1
15 aortic valve insufficiency 10.0 TGFBR2 FBN1
16 aortic dissection 10.0 TGFBR2 FBN1
17 loeys-dietz syndrome 1 10.0 TGFBR2 FBN1
18 collagen disease 10.0 TGFBR2 FBN1
19 glaucoma 3, primary congenital, a 9.9 ADAMTSL4 ADAMTS10
20 cutis laxa, autosomal dominant 1 9.9 TGFBR2 FBN1
21 familial thoracic aortic aneurysm and aortic dissection 9.9 TGFBR2 FBN1
22 aneurysm 9.9 TGFBR2 FBN1
23 encephalopathy, ethylmalonic 9.8 SUOX CBSL
24 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 FBN1
25 hemophilia b 9.8 FBN1 EGF
26 patent ductus arteriosus 1 9.8 TGFBR2 FBN1
27 lens disease 9.8 FBN1 ADAMTSL4
28 tracheal stenosis 9.8 FBN1 ADAMTSL4 ADAMTS10
29 estrogen-receptor negative breast cancer 9.8 TGFBR2 EGF
30 stiff skin syndrome 9.8 FBN1 ADAMTSL4 ADAMTS10
31 sulfite oxidase deficiency, isolated 9.8 SUOX ADAMTSL4 ADAMTS10
32 peters-plus syndrome 9.7 THSD4 ADAMTSL4 ADAMTS10
33 brachydactyly 9.7 FBN1 ADAMTSL4 ADAMTS10
34 craniosynostosis 9.7 TGFBR2 FBN1 ADAMTSL4
35 glaucoma, primary open angle 9.6 FBN1 ADAMTS10
36 lens subluxation 9.5 SUOX FBN1 ADAMTSL4 ADAMTS10
37 acromicric dysplasia 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
38 geleophysic dysplasia 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
39 homocystinuria 9.2 SUOX FBN1 EGF CBSL
40 weill-marchesani syndrome 9.2 THSD4 SUOX FBN1 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:

56
Head And Neck Eyes:
ectopia lentis, isolated (congenital lens dislocation)

Clinical features from OMIM:

129600

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2
2 vision/eye MP:0005391 9.02 ADAMTS10 ADAMTSL4 CBSL EGF 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
Skin

Publications for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

(show all 29)
# Title Authors PMID Year
1
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 56 6
22539873 2012
2
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 6 56
17657824 2007
3
Ectopia lentis phenotypes and the FBN1 gene. 6 56
15054843 2004
4
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 56 6
12446365 2002
5
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 56 6
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 56
11700157 2001
7
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 6 56
7802039 1994
8
The revised ghent nosology; reclassifying isolated ectopia lentis. 56
24635535 2015
9
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 56
22736615 2012
10
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
11
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 56
20564469 2010
12
The revised Ghent nosology for the Marfan syndrome. 56
20591885 2010
13
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 56
20141359 2010
14
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 6
20375004 2010
15
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. 56
19353630 2009
16
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
17
A novel mutation of the fibrillin gene causing ectopia lentis. 6
8188302 1994
18
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 6
8136837 1994
19
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. 56
1542340 1992
20
Isolated congenital ectopia lentis with autosomal dominant inheritance. 56
310371 1979
21
Weill-Marchesani syndrome. Brachymorphism and ectopia lentis. 56
5928829 1966
22
Familial ectopia lentis and its complications. 56
13149756 1954
23
Glaucoma associated with subluxation of the lens in several members of a family. 56
18872477 1948
24
Congenital bilateral subluxation of the lens; report of a family. 56
21012374 1945
25
Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases. 61
22921888 2012
26
Genetic disorders of the elastic fiber system. 61
11068201 2000
27
The molecular genetics of Marfan syndrome and related microfibrillopathies. 61
10633129 2000
28
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. 61
9401003 1997
29
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 241) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
2 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
3 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
4 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
5 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
6 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
7 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
8 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
9 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
10 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
11 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
12 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
13 FBN1 NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys)SNV Pathogenic/Likely pathogenic 39667 rs397514558 15:48782210-48782210 15:48490013-48490013
14 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
15 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
16 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
17 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
18 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)SNV Pathogenic/Likely pathogenic 16437 rs137854464 15:48717680-48717680 15:48425483-48425483
19 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
20 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
21 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
22 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
23 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
24 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
25 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
26 FBN1 NM_000138.5(FBN1):c.*2045G>ASNV Conflicting interpretations of pathogenicity 884619 15:48701142-48701142 15:48408945-48408945
27 FBN1 NM_000138.4(FBN1):c.7820-4G>ASNV Conflicting interpretations of pathogenicity 514647 rs750036723 15:48707968-48707968 15:48415771-48415771
28 FBN1 NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter)SNV Conflicting interpretations of pathogenicity 547334 rs363806 15:48737664-48737664 15:48445467-48445467
29 FBN1 NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)SNV Conflicting interpretations of pathogenicity 495607 rs372118067 15:48764763-48764763 15:48472566-48472566
30 FBN1 NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)SNV Conflicting interpretations of pathogenicity 457262 rs756295016 15:48714203-48714203 15:48422006-48422006
31 FBN1 NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)SNV Conflicting interpretations of pathogenicity 457184 rs747713929 15:48782180-48782180 15:48489983-48489983
32 FBN1 NM_000138.4(FBN1):c.7560G>A (p.Thr2520=)SNV Conflicting interpretations of pathogenicity 457263 rs760425899 15:48714159-48714159 15:48421962-48421962
33 FBN1 NM_000138.4(FBN1):c.4211-10C>TSNV Conflicting interpretations of pathogenicity 457205 rs28730793 15:48764883-48764883 15:48472686-48472686
34 FBN1 NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)SNV Conflicting interpretations of pathogenicity 884752 15:48936876-48936876 15:48644679-48644679
35 FBN1 NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)SNV Conflicting interpretations of pathogenicity 885690 15:48936929-48936929 15:48644732-48644732
36 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977
37 FBN1 NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)SNV Conflicting interpretations of pathogenicity 16445 rs61746008 15:48704816-48704816 15:48412619-48412619
38 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
39 FBN1 NM_000138.5(FBN1):c.3712+9G>TSNV Conflicting interpretations of pathogenicity 887011 15:48777562-48777562 15:48485365-48485365
40 FBN1 NM_000138.5(FBN1):c.*779C>TSNV Conflicting interpretations of pathogenicity 885096 15:48702408-48702408 15:48410211-48410211
41 FBN1 NM_000138.5(FBN1):c.*43A>TSNV Conflicting interpretations of pathogenicity 888468 15:48703144-48703144 15:48410947-48410947
42 FBN1 NM_000138.5(FBN1):c.2175T>C (p.Asn725=)SNV Conflicting interpretations of pathogenicity 42298 rs140606 15:48789581-48789581 15:48497384-48497384
43 FBN1 NM_000138.5(FBN1):c.2895G>A (p.Glu965=)SNV Conflicting interpretations of pathogenicity 42320 rs140591 15:48782235-48782235 15:48490038-48490038
44 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
45 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
46 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
47 FBN1 NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)SNV Conflicting interpretations of pathogenicity 42408 rs363824 15:48725121-48725121 15:48432924-48432924
48 FBN1 NM_000138.5(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
49 FBN1 NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
50 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104

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

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Arg545Cys VAR_002284
2 FBN1 p.Asp1155Asn VAR_002317
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
7 FBN1 p.Arg1530Cys VAR_018012 rs111401431
8 FBN1 p.Pro2154Arg VAR_018030
9 FBN1 p.Cys2339Tyr VAR_018035
10 FBN1 p.Tyr63Cys VAR_075987
11 FBN1 p.Cys68Ser VAR_075988
12 FBN1 p.Cys365Trp VAR_076004
13 FBN1 p.Cys596Arg VAR_076015
14 FBN1 p.Ser634Pro VAR_076017
15 FBN1 p.Ala882Val VAR_076029
16 FBN1 p.Glu2250Gly VAR_076130
17 FBN1 p.Tyr2272Cys VAR_076132
18 FBN1 p.Cys2448Arg VAR_076141

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....