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ECTOL1
MCID: ECT098
MIFTS: 38

Ectopia Lentis 1, Isolated, Autosomal Dominant (ECTOL1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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:

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


External Ids:

Disease Ontology 12 DOID:0111150
OMIM 56 129600
SNOMED-CT via HPO 68 263681008 74969002
UMLS 71 C1851286 C3541518
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Summaries for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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 eye, skin and bone, 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.

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Related Diseases for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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 36)
# 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 ectopia lentis 2, isolated, autosomal recessive 28.5 THSD4 TGFBR2 SUOX FBN1 EGF CBSL
4 hyperlysinemia, type i 10.1 SUOX ADAMTSL4
5 cataract 10.1
6 tracheal disease 10.1 FBN1 ADAMTS10
7 megalocornea 10.1 FBN1 ADAMTS10
8 subclavian artery aneurysm 10.0 TGFBR2 FBN1
9 aneurysm 10.0 TGFBR2 FBN1
10 tricuspid valve prolapse 10.0 TGFBR2 FBN1
11 loeys-dietz syndrome 5 10.0 TGFBR2 FBN1
12 heritable thoracic aortic disease 10.0 TGFBR2 FBN1
13 primary congenital glaucoma 10.0 FBN1 ADAMTS10
14 loeys-dietz syndrome 3 10.0 TGFBR2 FBN1
15 loeys-dietz syndrome 4 10.0 TGFBR2 FBN1
16 arterial tortuosity syndrome 10.0 TGFBR2 FBN1
17 aortic valve insufficiency 10.0 TGFBR2 FBN1
18 costello syndrome 10.0 FBN1 EGF
19 loeys-dietz syndrome 1 10.0 TGFBR2 FBN1
20 familial thoracic aortic aneurysm and dissection 9.9 TGFBR2 FBN1
21 lens disease 9.9 FBN1 ADAMTSL4
22 aortic aneurysm, familial thoracic 1 9.9 TGFBR2 FBN1
23 cutis laxa, autosomal dominant 1 9.8 TGFBR2 FBN1
24 encephalopathy, ethylmalonic 9.8 SUOX CBSL
25 patent ductus arteriosus 1 9.8 TGFBR2 FBN1
26 tracheal stenosis 9.8 FBN1 ADAMTSL4 ADAMTS10
27 glaucoma 3, primary congenital, a 9.8 FBN1 ADAMTSL4 ADAMTS10
28 estrogen-receptor negative breast cancer 9.8 TGFBR2 EGF
29 glaucoma, primary open angle 9.8 FBN1 ADAMTS10
30 homocystinuria 9.7 SUOX FBN1
31 peters-plus syndrome 9.7 THSD4 ADAMTSL4 ADAMTS10
32 brachydactyly 9.7 FBN1 ADAMTSL4 ADAMTS10
33 craniosynostosis 9.7 TGFBR2 FBN1 ADAMTSL4
34 aortic valve disease 1 9.5 TGFBR2 FBN1 EGF
35 lens subluxation 9.5 SUOX FBN1 ADAMTSL4 ADAMTS10
36 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
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Symptoms & Phenotypes for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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
Sources

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

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

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Genetic Tests for Ectopia Lentis 1, Isolated, Autosomal Dominant

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Anatomical Context for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

40
Eye, Skin, Bone, Breast
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Publications for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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. 56 6
17657824 2007
3
Ectopia lentis phenotypes and the FBN1 gene. 56 6
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. 56 6
11700157 2001
7
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 56 6
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
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Variations for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
2 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
3 FBN1 NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
4 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
5 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
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_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
8 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
9 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
10 FBN1 NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
11 FBN1 NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
12 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
13 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
14 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)SNV Pathogenic/Likely pathogenic 16437 rs137854464 15:48717680-48717680 15:48425483-48425483
15 FBN1 NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
16 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
17 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
18 FBN1 NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
19 FBN1 NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys)SNV Pathogenic/Likely pathogenic 39667 rs397514558 15:48782210-48782210 15:48490013-48490013
20 FBN1 NM_000138.4(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
21 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
22 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
23 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
24 FBN1 NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly)SNV Conflicting interpretations of pathogenicity 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
25 FBN1 NM_000138.4(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
26 FBN1 NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)SNV Conflicting interpretations of pathogenicity 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
27 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)SNV Conflicting interpretations of pathogenicity 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
28 FBN1 NM_000138.4(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
29 FBN1 NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
30 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 381319 rs141925790 15:48756163-48756163 15:48463966-48463966
31 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
32 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)SNV Uncertain significance 457269 rs376119827 15:48703571-48703571 15:48411374-48411374
33 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=)SNV Uncertain significance 495593 rs144339604 15:48779510-48779510 15:48487313-48487313
34 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)SNV Uncertain significance 501654 rs368650399 15:48762932-48762932 15:48470735-48470735
35 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
36 FBN1 NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg)SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
37 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
38 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
39 FBN1 NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr)SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958
40 FBN1 NM_000138.4(FBN1):c.164+5A>GSNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
41 FBN1 NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala)SNV Uncertain significance 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
42 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)SNV Uncertain significance 626103 rs1566904712 15:48760729-48760729 15:48468532-48468532
43 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)SNV Uncertain significance 549070 rs1555399361 15:48789469-48789469 15:48497272-48497272
44 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)SNV Uncertain significance 626101 rs1290478839 15:48720583-48720583 15:48428386-48428386
45 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149
46 FBN1 NM_000138.4(FBN1):c.8138A>G (p.Glu2713Gly)SNV Uncertain significance 548587 rs1555393658 15:48704854-48704854 15:48412657-48412657
47 LTBP2 NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)SNV Benign 126951 rs137854857 14:75017900-75017900 14:74551197-74551197

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

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Expression for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

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

# Super pathways Score Top Affiliating Genes
1
HIV Life Cycle 65
Show member pathways
 13.17 THSD4 TGFBR2 EGF ADAMTSL4 ADAMTS10
2
O-linked glycosylation 65
Show member pathways
 11.7 THSD4 ADAMTSL4 ADAMTS10
3
Diseases of glycosylation 65
Show member pathways
 11.5 THSD4 ADAMTSL4 ADAMTS10
4
TGF-beta Receptor Signaling (WikiPathways) 1
11.13 TGFBR2 EGF
5
TGF-beta signaling pathway (KEGG) 36
11.1 THSD4 TGFBR2 FBN1
6
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.72 TGFBR2 FBN1
7
O-glycosylation of TSR domain-containing proteins 65
Show member pathways
 10.68 THSD4 ADAMTSL4 ADAMTS10
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GO Terms for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.33 THSD4 FBN1 ADAMTSL4
2 collagen-containing extracellular matrix GO:0062023 9.26 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 microfibril GO:0001527 8.8 THSD4 FBN1 ADAMTS10
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Sources for Ectopia Lentis 1, Isolated, Autosomal Dominant

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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
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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