WS2A
MCID: WRD032
MIFTS: 47

Waardenburg Syndrome, Type 2a (WS2A)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 2a

MalaCards integrated aliases for Waardenburg Syndrome, Type 2a:

Name: Waardenburg Syndrome, Type 2a 57 13 40
Waardenburg Syndrome Type 2a 12 76 53 29 6 15
Ws2a 57 12 53 75
Waardenburg Syndrome, Type Iia 57 73
Waardenburg Syndrome Without Dystopia Canthorum 57
Waardenburg Syndrome Type Iia 12
Waardenburg Syndrome 2a 75
Ws2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity of each feature
genetic heterogeneity of waardenburg syndrome type 2
other variants of waardenburg syndrome include waardenburg syndrome type 1 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

32
waardenburg syndrome, type 2a:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 2a

OMIM : 57 Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). (193510)

MalaCards based summary : Waardenburg Syndrome, Type 2a, also known as waardenburg syndrome type 2a, is related to waardenburg syndrome, type 4b and waardenburg syndrome, type 2e. An important gene associated with Waardenburg Syndrome, Type 2a is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Neural Crest Differentiation and Cushing syndrome. Affiliated tissues include skin, eye and kidney, and related phenotypes are wide nasal bridge and underdeveloped nasal alae

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in heterozygous mutation in the MITF gene on chromosome 3p13.

UniProtKB/Swiss-Prot : 75 Waardenburg syndrome 2A: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Wikipedia : 76 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

Related Diseases for Waardenburg Syndrome, Type 2a

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4b 31.8 SOX10 SNAI2 MITF EDNRB EDN3
2 waardenburg syndrome, type 2e 31.5 SOX10 SNAI2 MITF EDNRB
3 albinism 30.0 TYRP1 TYR MITF
4 ocular albinism 29.9 TYRP1 TYR MITF
5 microphthalmia 29.5 TYRP1 TYR TFEB TFE3 MITF
6 waardenburg's syndrome 29.4 TYRP1 TYR TFE3 SOX10 SNAI2 MITF
7 waardenburg syndrome, type 4c 11.4
8 waardenburg syndrome, type 2b 11.1
9 waardenburg syndrome, type 2c 11.1
10 waardenburg syndrome, type 2d 11.1
11 abcd syndrome 10.2 EDNRB-AS1 EDNRB
12 hirschsprung disease 2 10.2 EDNRB-AS1 EDNRB
13 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
14 albinism, ocular, with sensorineural deafness 10.2 TYR MITF
15 pigmented basal cell carcinoma 10.2 TYR MITF
16 hypomelanosis of ito 10.2 TYR MITF
17 epithelioid cell melanoma 10.2 TYR MITF
18 mutism 10.1 MITF GJB2
19 waardenburg syndrome, type 3 10.1 SOX10 MITF EDN3
20 sarcomatoid squamous cell skin carcinoma 10.1 TFE3 MITF
21 renal cell carcinoma, xp11-associated 10.1 TFEB TFE3
22 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 MITF GJB2
23 albinism, ocular, with late-onset sensorineural deafness 10.1 TYR SOX10 MITF
24 malignant spindle cell melanoma 10.1 TYR SOX10 MITF
25 breast angiosarcoma 10.1 TYR SOX10 MITF
26 tietz albinism-deafness syndrome 10.1 TYR SOX10 MITF
27 megacolon 10.1 SOX10 EDNRB EDN3
28 colonic disease 10.1 SOX10 EDNRB EDN3
29 goldberg-shprintzen syndrome 10.1 EDNRB EDN3
30 childhood kidney cell carcinoma 10.0 TFEB TFE3 MITF
31 albinism, oculocutaneous, type ii 10.0 TYRP1 TYR
32 piebald trait 10.0 TYR SNAI2 MITF
33 waardenburg syndrome type 4 10.0 SOX10 MITF EDNRB EDN3
34 albinism, oculocutaneous, type iii 10.0 TYRP1 TYR
35 albinism, oculocutaneous, type ib 10.0 TYRP1 TYR
36 hirschsprung disease 1 10.0 SOX10 MITF EDNRB EDN3
37 amelanotic melanoma 10.0 TYRP1 TYR
38 hermansky-pudlak syndrome 1 10.0 TYR SOX10
39 albinism, oculocutaneous, type v 10.0 TYRP1 TYR
40 dyschromatosis symmetrica hereditaria 10.0 TYR SOX10 MITF EDN3
41 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 TYRP1 TYR MITF
42 dowling-degos disease 1 10.0 TYRP1 TYR MITF
43 albinism, oculocutaneous, type vii 10.0 TYRP1 TYR
44 hermansky-pudlak syndrome 3 10.0 TYRP1 TYR MITF
45 primary orthostatic tremor 10.0
46 streptococcal group a invasive disease 10.0
47 isolated optic neuritis 10.0
48 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYRP1 TYR MITF
49 albinism, oculocutaneous, type ia 10.0 TYRP1 TYR
50 angiomyolipoma 10.0 TYR MITF

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2a:



Diseases related to Waardenburg Syndrome, Type 2a

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi

Skin Nails Hair Hair:
premature graying of hair
white forelock
white eyelashes and eyebrows

Head And Neck Ears:
deafness, congenital sensorineural

Head And Neck Eyes:
heterochromia iridis
synophrys
hypoplastic iris stoma
dystopia canthorum absent

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs


Clinical features from OMIM:

193510

Human phenotypes related to Waardenburg Syndrome, Type 2a:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 32 HP:0000431
2 underdeveloped nasal alae 32 HP:0000430
3 heterochromia iridis 32 HP:0001100
4 premature graying of hair 32 HP:0002216
5 white forelock 32 HP:0002211
6 synophrys 32 HP:0000664
7 white eyebrow 32 HP:0002226
8 white eyelashes 32 HP:0002227
9 congenital sensorineural hearing impairment 32 HP:0008527
10 partial albinism 32 HP:0007443
11 hypoplastic iris stroma 32 HP:0007990
12 albinism 32 HP:0001022

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2a:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.23 CDK2 EDN3 EDNRB GJB2 MITF SNAI2
2 growth/size/body region MP:0005378 10.21 CDK2 EDNRB GJB2 MITF SNAI2 SOX10
3 embryo MP:0005380 10.18 CDK2 EDN3 EDNRB GJB2 MITF SNAI2
4 mortality/aging MP:0010768 10.14 CDK2 EDN3 EDNRB GJB2 MITF SNAI2
5 homeostasis/metabolism MP:0005376 10.13 CDK2 EDNRB GJB2 MITF SNAI2 SOX10
6 craniofacial MP:0005382 10.08 EDNRB GJB2 MITF SNAI2 TFE3 TYR
7 nervous system MP:0003631 9.92 EDN3 EDNRB GJB2 MITF SNAI2 SOX10
8 hearing/vestibular/ear MP:0005377 9.89 EDNRB GJB2 MITF TYR TYRP1
9 pigmentation MP:0001186 9.85 EDN3 EDNRB MITF SNAI2 SOX10 TFE3
10 limbs/digits/tail MP:0005371 9.83 EDNRB GJB2 MITF SOX10 TYR
11 normal MP:0002873 9.8 GJB2 MITF SOX10 TFE3 TFEB TFEC
12 neoplasm MP:0002006 9.77 CDK2 EDNRB SOX10 TYR TYRP1
13 skeleton MP:0005390 9.61 EDNRB GJB2 MITF SNAI2 TFE3 TFEB
14 vision/eye MP:0005391 9.32 CDK2 EDNRB GJB2 MITF SNAI2 TFE3

Drugs & Therapeutics for Waardenburg Syndrome, Type 2a

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 2a

Genetic Tests for Waardenburg Syndrome, Type 2a

Genetic tests related to Waardenburg Syndrome, Type 2a:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2a 29 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2a:

41
Skin, Eye, Kidney, Colon

Publications for Waardenburg Syndrome, Type 2a

Articles related to Waardenburg Syndrome, Type 2a:

# Title Authors Year
1
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. ( 30117279 )
2018
2
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. ( 29094203 )
2017
3
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. ( 9170159 )
1997
4
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. ( 8659547 )
1996

Variations for Waardenburg Syndrome, Type 2a

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2a:

75
# Symbol AA change Variation ID SNP ID
1 MITF p.Ser357Pro VAR_010300 rs104893744
2 MITF p.Asn385Asp VAR_010301
3 MITF p.Ser405Pro VAR_010302 rs104893747

ClinVar genetic disease variations for Waardenburg Syndrome, Type 2a:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 69985907: 69985907
2 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69936756: 69936756
3 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69949049: 69949049
4 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 69998200: 69998200
5 MITF NM_198159.2(MITF): c.1051T> C (p.Ser351Pro) single nucleotide variant Pathogenic rs104893744 GRCh37 Chromosome 3, 70008461: 70008461
6 MITF NM_198159.2(MITF): c.1051T> C (p.Ser351Pro) single nucleotide variant Pathogenic rs104893744 GRCh38 Chromosome 3, 69959310: 69959310
7 MITF NM_000248.3(MITF): c.824delA (p.Glu275Glyfs) deletion Pathogenic GRCh37 Chromosome 3, 70008537: 70008537
8 MITF NM_000248.3(MITF): c.824delA (p.Glu275Glyfs) deletion Pathogenic GRCh38 Chromosome 3, 69959386: 69959386
9 MITF NM_198159.2(MITF): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs104893746 GRCh37 Chromosome 3, 70005611: 70005611
10 MITF NM_198159.2(MITF): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs104893746 GRCh38 Chromosome 3, 69956460: 69956460
11 MITF NM_198159.2(MITF): c.1195T> C (p.Ser399Pro) single nucleotide variant Pathogenic rs104893747 GRCh37 Chromosome 3, 70014031: 70014031
12 MITF NM_198159.2(MITF): c.1195T> C (p.Ser399Pro) single nucleotide variant Pathogenic rs104893747 GRCh38 Chromosome 3, 69964880: 69964880
13 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh37 Chromosome 13, 78475230: 78475230
14 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh38 Chromosome 13, 77901095: 77901095
15 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh37 Chromosome 3, 70014091: 70014091
16 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh38 Chromosome 3, 69964940: 69964940
17 MITF NM_198159.2(MITF): c.1190delG (p.Gly397Aspfs) deletion Pathogenic rs878853234 GRCh38 Chromosome 3, 69964875: 69964875
18 MITF NM_198159.2(MITF): c.1190delG (p.Gly397Aspfs) deletion Pathogenic rs878853234 GRCh37 Chromosome 3, 70014026: 70014026
19 MITF NM_000248.3(MITF): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517966 GRCh37 Chromosome 3, 70008476: 70008476
20 MITF NM_000248.3(MITF): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517966 GRCh38 Chromosome 3, 69959325: 69959325
21 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 GRCh38 Chromosome 3, 69951870: 69951870
22 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 GRCh37 Chromosome 3, 70001021: 70001021
23 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 GRCh38 Chromosome 3, 69956469: 69956469
24 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 GRCh37 Chromosome 3, 70005620: 70005620
25 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 GRCh38 Chromosome 3, 69956454: 69956454
26 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 GRCh37 Chromosome 3, 70005605: 70005605
27 MITF NM_198159.2(MITF): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 69939164: 69939164
28 MITF NM_198159.2(MITF): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 69988315: 69988315
29 SOX10 NM_006941.3(SOX10): c.1091delA (p.Gln364Argfs) deletion Likely pathogenic GRCh37 Chromosome 22, 38369812: 38369812
30 SOX10 NM_006941.3(SOX10): c.1091delA (p.Gln364Argfs) deletion Likely pathogenic GRCh38 Chromosome 22, 37973805: 37973805
31 SOX10 NM_006941.3(SOX10): c.430delC (p.Leu144Cysfs) deletion Likely pathogenic GRCh37 Chromosome 22, 38374141: 38374141
32 SOX10 NM_006941.3(SOX10): c.430delC (p.Leu144Cysfs) deletion Likely pathogenic GRCh38 Chromosome 22, 37978134: 37978134
33 SOX10 NM_006941.3(SOX10): c.403A> C (p.Ser135Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 38379389: 38379389
34 SOX10 NM_006941.3(SOX10): c.403A> C (p.Ser135Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 37983382: 37983382
35 SOX10 NM_006941.3(SOX10): c.44_62del19 (p.Val15Alafs) deletion Likely pathogenic GRCh38 Chromosome 22, 37983723: 37983741
36 SOX10 NM_006941.3(SOX10): c.44_62del19 (p.Val15Alafs) deletion Likely pathogenic GRCh37 Chromosome 22, 38379730: 38379748
37 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 69951856: 69951856
38 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 70001007: 70001007
39 MITF NM_000248.3(MITF): c.348G> A (p.Met116Ile) single nucleotide variant Likely benign rs1032758072 GRCh37 Chromosome 3, 69990389: 69990389
40 MITF NM_000248.3(MITF): c.348G> A (p.Met116Ile) single nucleotide variant Likely benign rs1032758072 GRCh38 Chromosome 3, 69941238: 69941238
41 MITF NM_000248.3(MITF): c.409_410delTTinsCC (p.Leu137Pro) indel Likely pathogenic GRCh38 Chromosome 3, 69941299: 69941300
42 MITF NM_000248.3(MITF): c.409_410delTTinsCC (p.Leu137Pro) indel Likely pathogenic GRCh37 Chromosome 3, 69990450: 69990451
43 MITF NM_000248.3(MITF): c.632T> C (p.Leu211Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 69951884: 69951884
44 MITF NM_000248.3(MITF): c.632T> C (p.Leu211Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 70001035: 70001035
45 MITF NM_000248.3(MITF): c.668G> A (p.Arg223His) single nucleotide variant Uncertain significance rs763119975 GRCh38 Chromosome 3, 69956488: 69956488
46 MITF NM_000248.3(MITF): c.668G> A (p.Arg223His) single nucleotide variant Uncertain significance rs763119975 GRCh37 Chromosome 3, 70005639: 70005639
47 MITF NM_000248.3(MITF): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs147682682 GRCh37 Chromosome 3, 70005647: 70005647
48 MITF NM_000248.3(MITF): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs147682682 GRCh38 Chromosome 3, 69956496: 69956496
49 MITF NM_000248.3(MITF): c.710+4A> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 69956534: 69956534
50 MITF NM_000248.3(MITF): c.710+4A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 70005685: 70005685

Expression for Waardenburg Syndrome, Type 2a

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2a.

Pathways for Waardenburg Syndrome, Type 2a

Pathways related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 MITF SNAI2 SOX10
2
Show member pathways
11.43 CDK2 EDNRB MITF TYR TYRP1
3 11.14 MITF TFE3 TFEB
4 10.93 MITF SOX10
5 9.65 TYR TYRP1

GO Terms for Waardenburg Syndrome, Type 2a

Cellular components related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYR TYRP1

Biological processes related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.99 MITF SNAI2 SOX10 TFE3 TFEB TFEC
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.89 CDK2 CDKN1C EDNRB MITF SNAI2
3 negative regulation of apoptotic process GO:0043066 9.85 EDNRB MITF SNAI2 SOX10
4 aging GO:0007568 9.71 CDKN1C EDNRB GJB2
5 positive regulation of transcription, DNA-templated GO:0045893 9.63 CDK2 CDKN1C MITF SOX10 TFE3 TFEB
6 humoral immune response GO:0006959 9.54 MITF TFE3 TFEB
7 peripheral nervous system development GO:0007422 9.52 EDNRB SOX10
8 vasoconstriction GO:0042310 9.48 EDN3 EDNRB
9 regulation of osteoclast differentiation GO:0045670 9.46 MITF TFE3
10 melanin biosynthetic process GO:0042438 9.43 TYR TYRP1
11 neural crest cell migration GO:0001755 9.43 EDN3 EDNRB SOX10
12 enteric nervous system development GO:0048484 9.4 EDNRB SOX10
13 pigmentation GO:0043473 9.35 EDNRB MITF SNAI2 TYR TYRP1
14 vein smooth muscle contraction GO:0014826 9.32 EDN3 EDNRB
15 melanocyte differentiation GO:0030318 9.02 EDN3 EDNRB MITF SOX10 TYRP1

Molecular functions related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 MITF SNAI2 SOX10 TFE3 TFEB TFEC
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 MITF SOX10 TFE3 TFEC
3 DNA-binding transcription factor activity GO:0003700 9.43 MITF SNAI2 SOX10 TFE3 TFEB TFEC
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 MITF SNAI2 SOX10
5 protein dimerization activity GO:0046983 8.92 MITF TFE3 TFEB TFEC

Sources for Waardenburg Syndrome, Type 2a

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
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74 UMLS via Orphanet
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