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 58 13 41
Waardenburg Syndrome Type 2a 12 77 54 30 6 15
Ws2a 58 12 54 76
Waardenburg Syndrome, Type Iia 58 74
Waardenburg Syndrome Without Dystopia Canthorum 58
Waardenburg Syndrome Type Iia 12
Waardenburg Syndrome 2a 76
Ws2 58

Characteristics:

OMIM:

58
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:

33
waardenburg syndrome, type 2a:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 2a

OMIM : 58 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 4c and waardenburg syndrome, type 4b. An important gene associated with Waardenburg Syndrome, Type 2a is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Mitophagy - animal and Neural Crest Differentiation. Affiliated tissues include skin and eye, 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 : 76 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 : 77 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 62)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4c 32.7 POLR2F SOX10
2 waardenburg syndrome, type 4b 31.7 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
3 waardenburg syndrome, type 2e 31.5 SOX10 SNAI2 POLR2F MITF EDNRB
4 albinism 30.0 MITF TYR TYRP1
5 ocular albinism 30.0 TYRP1 TYR MITF
6 microphthalmia 28.8 TYRP1 TYR TFEB TFE3 PAX3 MITF
7 waardenburg's syndrome 28.2 TYRP1 TYR TFE3 SOX10 SNAI2 POLR2F
8 waardenburg syndrome, type 2b 11.1
9 waardenburg syndrome, type 2c 11.1
10 waardenburg syndrome, type 2d 11.1
11 abcd syndrome 10.4 EDNRB EDNRB-AS1
12 hirschsprung disease 2 10.4 EDNRB EDNRB-AS1
13 albinism, ocular, with sensorineural deafness 10.3 MITF TYR
14 clear cell papillary renal cell carcinoma 10.3 MITF TFE3
15 pigmented basal cell carcinoma 10.3 MITF TYR
16 hypomelanosis of ito 10.3 MITF TYR
17 primary orthostatic tremor 10.3
18 albinism, ocular, with late-onset sensorineural deafness 10.3 TYR SOX10 MITF
19 cutaneous ganglioneuroma 10.3 KIT MITF
20 epithelioid cell melanoma 10.2 MITF TYR
21 mutism 10.2 GJB2 MITF
22 megacolon 10.2 SOX10 EDNRB EDN3
23 colonic disease 10.2 EDN3 EDNRB SOX10
24 rapidly involuting congenital hemangioma 10.2
25 hermansky-pudlak syndrome 1 10.2 TYR SOX10 PAX3
26 renal cell carcinoma, xp11-associated 10.2 TFE3 TFEB
27 neurofibroma 10.2 SOX10 MITF KIT
28 waardenburg syndrome type 4 10.2 SOX10 MITF EDNRB EDN3
29 isolated optic neuritis 10.1
30 angiomyolipoma 10.1 TYR MITF KIT
31 renal cell carcinoma, papillary, 1 10.1 KIT MITF TFE3
32 waardenburg syndrome, type 3 10.1 SOX10 PAX3 MITF EDN3
33 muscle cancer 10.1 TFE3 PAX3 KIT
34 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 MITF
35 tietz albinism-deafness syndrome 10.1 TYR SOX10 PAX3 MITF
36 constipation 10.1 EDN3 EDNRB KIT
37 albinism, oculocutaneous, type iii 10.0 TYR TYRP1
38 malignant spindle cell melanoma 10.0 TYR SOX10 MITF KIT
39 breast angiosarcoma 10.0 TYR SOX10 MITF KIT
40 waardenburg syndrome, type 4a 10.0 SOX10 MITF EDNRB-AS1 EDNRB EDN3
41 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 TYRP1 TYR MITF
42 hermansky-pudlak syndrome 3 10.0 TYRP1 TYR MITF
43 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYRP1 TYR MITF
44 albinism, oculocutaneous, type ib 10.0 TYR TYRP1
45 intraocular pressure quantitative trait locus 10.0
46 streptococcal group a invasive disease 10.0
47 nodular lymphocyte predominant hodgkin lymphoma 10.0
48 angiomyoma 10.0 CDK2 KIT
49 childhood kidney cell carcinoma 10.0 TFEB TFE3 PAX3 MITF
50 dyschromatosis symmetrica hereditaria 9.9 TYR SOX10 PAX3 MITF EDN3

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

Human phenotypes related to Waardenburg Syndrome, Type 2a:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 33 HP:0000431
2 underdeveloped nasal alae 33 HP:0000430
3 heterochromia iridis 33 HP:0001100
4 premature graying of hair 33 HP:0002216
5 white forelock 33 HP:0002211
6 synophrys 33 HP:0000664
7 white eyebrow 33 HP:0002226
8 white eyelashes 33 HP:0002227
9 congenital sensorineural hearing impairment 33 HP:0008527
10 partial albinism 33 HP:0007443
11 hypoplastic iris stroma 33 HP:0007990
12 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
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

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

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.3 CDK2 EDN3 EDNRB GJB2 KIT MITF
2 growth/size/body region MP:0005378 10.29 CDK2 EDNRB GJB2 KIT MITF PAX3
3 embryo MP:0005380 10.28 CDK2 EDN3 EDNRB GJB2 KIT MITF
4 behavior/neurological MP:0005386 10.26 EDN3 EDNRB KIT MITF PAX3 SNAI2
5 homeostasis/metabolism MP:0005376 10.22 CDK2 EDNRB GJB2 KIT MITF PAX3
6 mortality/aging MP:0010768 10.22 CDK2 EDN3 EDNRB GJB2 KIT MITF
7 craniofacial MP:0005382 10.2 EDNRB GJB2 KIT MITF PAX3 SNAI2
8 endocrine/exocrine gland MP:0005379 10.13 CDK2 EDNRB KIT MITF PAX3 SNAI2
9 nervous system MP:0003631 10.06 EDN3 EDNRB GJB2 KIT MITF PAX3
10 hearing/vestibular/ear MP:0005377 10.04 EDNRB GJB2 KIT MITF PAX3 TYR
11 limbs/digits/tail MP:0005371 9.98 EDNRB GJB2 KIT MITF PAX3 SOX10
12 pigmentation MP:0001186 9.93 EDN3 EDNRB KIT MITF PAX3 SNAI2
13 neoplasm MP:0002006 9.91 CDK2 EDNRB KIT PAX3 SOX10 TYR
14 normal MP:0002873 9.91 GJB2 KIT MITF PAX3 SOX10 TFE3
15 skeleton MP:0005390 9.7 EDNRB GJB2 KIT MITF PAX3 SNAI2
16 vision/eye MP:0005391 9.44 CDK2 EDNRB GJB2 KIT MITF PAX3

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 30 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

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

42
Skin, Eye

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:

76
# 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 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.824delA (p.Glu275Glyfs) deletion Pathogenic rs1553705282 GRCh37 Chromosome 3, 70008537: 70008537
2 MITF NM_000248.3(MITF): c.824delA (p.Glu275Glyfs) deletion Pathogenic rs1553705282 GRCh38 Chromosome 3, 69959386: 69959386
3 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic rs1553701477 GRCh37 Chromosome 3, 69985907: 69985907
4 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic rs1553701477 GRCh38 Chromosome 3, 69936756: 69936756
5 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic rs1553703612 GRCh38 Chromosome 3, 69949049: 69949049
6 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic rs1553703612 GRCh37 Chromosome 3, 69998200: 69998200
7 MITF NM_198159.2(MITF): c.1051T> C (p.Ser351Pro) single nucleotide variant Pathogenic rs104893744 GRCh37 Chromosome 3, 70008461: 70008461
8 MITF NM_198159.2(MITF): c.1051T> C (p.Ser351Pro) single nucleotide variant Pathogenic rs104893744 GRCh38 Chromosome 3, 69959310: 69959310
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 rs1553702006 GRCh38 Chromosome 3, 69939164: 69939164
28 MITF NM_198159.2(MITF): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553702006 GRCh37 Chromosome 3, 69988315: 69988315
29 SOX10 NM_006941.3(SOX10): c.1091delA (p.Gln364Argfs) deletion Likely pathogenic rs1555937398 GRCh37 Chromosome 22, 38369812: 38369812
30 SOX10 NM_006941.3(SOX10): c.1091delA (p.Gln364Argfs) deletion Likely pathogenic rs1555937398 GRCh38 Chromosome 22, 37973805: 37973805
31 SOX10 NM_006941.3(SOX10): c.430delC (p.Leu144Cysfs) deletion Likely pathogenic rs1555938422 GRCh37 Chromosome 22, 38374141: 38374141
32 SOX10 NM_006941.3(SOX10): c.430delC (p.Leu144Cysfs) deletion Likely pathogenic rs1555938422 GRCh38 Chromosome 22, 37978134: 37978134
33 SOX10 NM_006941.3(SOX10): c.403A> C (p.Ser135Arg) single nucleotide variant Likely pathogenic rs1555939415 GRCh37 Chromosome 22, 38379389: 38379389
34 SOX10 NM_006941.3(SOX10): c.403A> C (p.Ser135Arg) single nucleotide variant Likely pathogenic rs1555939415 GRCh38 Chromosome 22, 37983382: 37983382
35 SOX10 NM_006941.3(SOX10): c.44_62del (p.Val15Alafs) deletion Likely pathogenic rs1555939564 GRCh38 Chromosome 22, 37983723: 37983741
36 SOX10 NM_006941.3(SOX10): c.44_62del (p.Val15Alafs) deletion Likely pathogenic rs1555939564 GRCh37 Chromosome 22, 38379730: 38379748
37 MITF NM_198159.2(MITF): c.1013+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 70005682: 70005682
38 MITF NM_198159.2(MITF): c.1013+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69956531: 69956531
39 MITF NM_198159.2(MITF): c.979G> T (p.Glu327Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 70005647: 70005647
40 MITF NM_198159.2(MITF): c.979G> T (p.Glu327Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69956496: 69956496
41 MITF NM_198159.2(MITF): c.1021C> G (p.Arg341Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 70008431: 70008431
42 MITF NM_198159.2(MITF): c.1021C> G (p.Arg341Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 69959280: 69959280
43 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic rs1553704086 GRCh38 Chromosome 3, 69951856: 69951856
44 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic rs1553704086 GRCh37 Chromosome 3, 70001007: 70001007
45 MITF NM_000248.3(MITF): c.348G> A (p.Met116Ile) single nucleotide variant Likely benign rs1032758072 GRCh37 Chromosome 3, 69990389: 69990389
46 MITF NM_000248.3(MITF): c.348G> A (p.Met116Ile) single nucleotide variant Likely benign rs1032758072 GRCh38 Chromosome 3, 69941238: 69941238
47 MITF NM_000248.3(MITF): c.409_410delTTinsCC (p.Leu137Pro) indel Likely pathogenic rs1553702406 GRCh38 Chromosome 3, 69941299: 69941300
48 MITF NM_000248.3(MITF): c.409_410delTTinsCC (p.Leu137Pro) indel Likely pathogenic rs1553702406 GRCh37 Chromosome 3, 69990450: 69990451
49 MITF NM_000248.3(MITF): c.632T> C (p.Leu211Pro) single nucleotide variant Likely pathogenic rs1553704097 GRCh38 Chromosome 3, 69951884: 69951884
50 MITF NM_000248.3(MITF): c.632T> C (p.Leu211Pro) single nucleotide variant Likely pathogenic rs1553704097 GRCh37 Chromosome 3, 70001035: 70001035

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 11.31 MITF TFE3 TFEB
2 11.27 MITF PAX3 SNAI2 SOX10
3 11.18 CDK2 MITF PAX3
4 10.54 KIT MITF PAX3 SOX10
5 9.85 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 nucleoplasm GO:0005654 9.61 CDK2 MITF PAX3 POLR2F SNAI2 SOX10
2 melanosome membrane GO:0033162 8.62 TYR TYRP1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.8 EDNRB MITF SNAI2 SOX10
2 sensory perception of sound GO:0007605 9.74 GJB2 PAX3 SNAI2
3 positive regulation of transcription, DNA-templated GO:0045893 9.7 CDK2 CDKN1C MITF PAX3 SOX10 TFE3
4 vasoconstriction GO:0042310 9.55 EDN3 EDNRB
5 transcription by RNA polymerase II GO:0006366 9.54 PAX3 POLR2F
6 humoral immune response GO:0006959 9.54 MITF TFE3 TFEB
7 regulation of osteoclast differentiation GO:0045670 9.51 MITF TFE3
8 neural crest cell migration GO:0001755 9.5 EDN3 EDNRB SOX10
9 melanin biosynthetic process GO:0042438 9.48 TYR TYRP1
10 developmental pigmentation GO:0048066 9.46 EDNRB KIT
11 enteric nervous system development GO:0048484 9.43 EDNRB SOX10
12 pigmentation GO:0043473 9.43 EDNRB KIT MITF SNAI2 TYR TYRP1
13 regulation of developmental pigmentation GO:0048070 9.4 EDN3 KIT
14 vein smooth muscle contraction GO:0014826 9.26 EDN3 EDNRB
15 melanocyte differentiation GO:0030318 9.1 EDN3 EDNRB KIT MITF SOX10 TYRP1
16 regulation of transcription, DNA-templated GO:0006355 10.07 MITF PAX3 SNAI2 SOX10 TFE3 TFEB
17 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 MITF PAX3 SOX10 TFE3 TFEB TFEC

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 MITF PAX3 POLR2F SNAI2 SOX10 TFE3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 MITF PAX3 SNAI2 SOX10 TFE3 TFEB
3 protein dimerization activity GO:0046983 9.26 MITF TFE3 TFEB TFEC
4 DNA-binding transcription factor activity GO:0003700 9.17 MITF PAX3 SNAI2 SOX10 TFE3 TFEB

Sources for Waardenburg Syndrome, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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