Waardenburg's Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Waardenburg's Syndrome

Sources:
²²Genetics Home Reference, ⁴²NIH Rare Diseases, ⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

NIH Rare Diseases:⁴² Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. the four known types of waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. in addition, hearing loss occurs more often in people with type 2 than in those with type 1. waardenburg syndrome type 3 (sometimes called klein-waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. waardenburg syndrome type 4 (also known as waardenburg-shah syndrome) has signs and symptoms of both waardenburg syndrome and hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. last updated: 4/18/2011

MalaCards based summary: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to neural tube defects and waardenburg syndrome type 4. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Regulation of retinoblastoma protein and Transcription factors in neurogenesis. The compounds kojic acid and bq610 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are hearing/vestibular/ear and tumorigenesis.

Genetics Home Reference:²² Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Wikipedia:⁶⁴ Waardenburg syndrome (also Waardenburg more...

Descriptions from OMIM:⁴⁶ 611584, 193510, 608890, 148820, 613266 277580, 613265, 193500 more

Aliases & Classifications for Waardenburg's Syndrome

Sources:
⁹Disease Ontology, ²²Genetics Home Reference, ⁶¹UMLS, ⁶⁴Wikipedia, ⁴²NIH Rare Diseases, ¹¹DISEASES, ⁴⁴Novoseek, ⁴⁸Orphanet, ³⁹NCIt, ⁴⁶OMIM, ³⁴MeSH, ⁵⁶SNOMED-CT
See all sources

Waardenburg's Syndrome, Aliases & Descriptions:

Name: Waardenburg's Syndrome ⁹ ²²

Waardenburg Syndrome ⁹ ⁶⁴ ⁴² ²²

Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome ⁴² ⁶¹

Van Der Hoeve Halbertsona Waardenburg Syndrome ⁹ ⁶¹

Waardenburgs Syndrome ¹¹ ⁴⁴

Male Ebp Disorder with Neurological Defects ⁴⁸

Waardenburg, Types I and/or Ii ⁹

Waardenburg Syndrome, Type I ⁶¹

Mende Syndrome ⁴²

Mend Syndrome ⁴⁸

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Gastrointestinal diseases

Orphanet: ⁴⁸

Rare neurological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology⁹ DOID:9258

NCIt³⁹ C85222

SNOMED-CT⁵⁶ 47434006

OMIM⁴⁶ 611584, 193510, 608890 148820, 613266, 277580, 613265, 193500, more

MeSH³⁴ D014849

UMLS⁶¹ C0043008

Related Diseases for Waardenburg's Syndrome

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Waardenburg Syndrome Type I family:

waardenburg's syndrome	Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2a	Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type 3	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome Type Ivb
Waardenburg Syndrome Type Ivc	Waardenburg Syndrome Type Iic
Waardenburg Syndrome Type Iid

Diseases related to Waardenburg's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50) (show all 67)

id	Related Disease	Score	Top Affiliating Genes
1	neural tube defects	30.9	PAX3
2	waardenburg syndrome type 4	30.7	MITF, EDNRB, EDN3, SOX10
3	ocular albinism	30.6	TYR
4	microphthalmia	30.6	TYR, MITF, PAX3
5	piebaldism	30.5	SNAI2, MITF, PAX3
6	waardenburg syndrome type i	10.9
7	waardenburg syndrome type 2	10.8
8	waardenburg syndrome type 3	10.7
9	waardenburg syndrome type 2a	10.6
10	waardenburg syndrome type iva	10.6
11	waardenburg syndrome type iid	10.5
12	waardenburg syndrome type 2b	10.5
13	waardenburg syndrome type ivb	10.5
14	waardenburg syndrome type ivc	10.5
15	waardenburg syndrome type iic	10.4
16	waardenburg syndrome, type 2e, with or without neurologic involvement	10.4
17	pcwh syndrome	10.3
18	albinism	10.3
19	anophthalmos with limb anomalies	10.3
20	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.3
21	waardenburg syndrome/ocular albinism, digenic	10.3
22	malignant peripheral nerve sheath tumor	10.2	MITF, SOX10
23	neurofibroma	10.2	MITF, SOX10
24	central hypoventilation syndrome, congenital, with or without hirschsprung disease	10.2	EDNRB, EDN3
25	sensorineural hearing loss	10.2	SOX10, MITF
26	intestinal obstruction	10.2	EDNRB, EDN3
27	spina bifida	10.2
28	megacolon	10.2
29	heterochromia iridis	10.2
30	myelomeningocele	10.2
31	waardenburg syndrome/albinism, digenic	10.2
32	pulmonary hypertension	10.1	EDN3, EDNRB
33	melanoma, cutaneous malignant 8	10.1	TYR, MITF
34	pigmentation disease	10.1	MITF, TYR
35	peripheral primitive neuroectodermal tumor	10.1	PAX3, EDNRB
36	angiomyolipoma	10.1	MITF, TYR
37	cleft palate	10.1	PAX3, SNAI2
38	duchenne muscular dystrophy	10.0
39	hypogonadotropism	10.0
40	renal agenesis	10.0
41	down syndrome	10.0
42	meningocele	10.0
43	cleft lip	10.0
44	syndactyly	10.0
45	crest syndrome	10.0
46	amblyopia	10.0
47	exotropia	10.0
48	hypogonadism	10.0
49	muscular dystrophy	10.0
50	albinism deafness syndrome	10.0

Graphical network of the top 20 diseases related to Waardenburg's Syndrome:

Symptoms for Waardenburg's Syndrome

Sources:
⁴⁶OMIM
See all sources

Clinical features from OMIM:

611584,193510,608890,148820,613266,277580,613265,193500

Drugs & Therapeutics for Waardenburg's Syndrome

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

Anatomical Context for Waardenburg's Syndrome

Sources:
³²MalaCards
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MalaCards organs/tissues related to Waardenburg's Syndrome:

³²

Eye, Skin, Bone, Pituitary, Neutrophil

Animal Models for Waardenburg's Syndrome or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

³⁶ (show all 18)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	9.0	EDNRB, PAX3, MITF
2	tumorigenesis	MP:0002006	8.5	PAX3, SOX10, TYR, EDNRB
3	normal phenotype	MP:0002873	8.4	MITF, PAX3, SOX10, TYR
4	limbs/digits/tail phenotype	MP:0005371	8.3	EDNRB, TYR, SOX10, PAX3, MITF
5	homeostasis/metabolism phenotype	MP:0005376	8.1	TYR, SOX10, PAX3, MITF, EDNRB
6	endocrine/exocrine gland phenotype	MP:0005379	8.0	SNAI2, MITF, PAX3, SOX10, TYR
7	craniofacial phenotype	MP:0005382	8.0	SNAI2, MITF, PAX3, SOX10, EDNRB
8	vision/eye phenotype	MP:0005391	7.9	EDNRB, TYR, PAX3, MITF, SNAI2
9	digestive/alimentary phenotype	MP:0005381	7.9	EDNRB, EDN3, SOX10, PAX3, SNAI2
10	skeleton phenotype	MP:0005390	7.9	EDNRB, TYR, PAX3, MITF, SNAI2
11	immune system phenotype	MP:0005387	7.8	EDNRB, TYR, PAX3, MITF, SNAI2
12	embryogenesis phenotype	MP:0005380	7.1	EDNRB, EDN3, TYR, EBP, SOX10, PAX3
13	growth/size/body phenotype	MP:0005378	7.1	EDNRB, TYR, EBP, SOX10, PAX3, MITF
14	pigmentation phenotype	MP:0001186	7.1	SNAI2, EDNRB, EDN3, TYR, SOX10, PAX3
15	behavior/neurological phenotype	MP:0005386	7.1	EDNRB, EDN3, TYR, SOX10, PAX3, MITF
16	nervous system phenotype	MP:0003631	7.0	EDNRB, EDN3, TYR, SOX10, PAX3, MITF
17	integument phenotype	MP:0010771	6.7	EDNRB, EDN3, TYR, EBP, SOX10, PAX3
18	mortality/aging	MP:0010768	6.7	EDNRB, EDN3, TYR, EBP, SOX10, PAX3

Publications for Waardenburg's Syndrome

Sources:
⁵¹PubMed
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Articles related to Waardenburg's Syndrome:

(show top 50) (show all 92)

id	Title	Authors	Year
1	Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)	Ahmed A.O.... Abubakar A.	2010
2	Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)	Gupta V.... Aggarwal H.C.	2000
3	Waardenburg's syndrome a rare entity. (23119554)	Chattopadhyay R.... Mehta A.K.	1999
4	Partial anodontia in a case of Waardenburg's syndrome. (10605569)	Bandyopadhyay S.... Singhania P.K.	1999
5	Atypical presentation of Waardenburg's syndrome type II. (10229606)	Knox G.... Lopes A.M.	1999
6	Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? (10190061)	Dourmishev A.L.... Janniger C.K.	1999
7	Waardenburg's syndrome and pituitary tumor. (7887168)	Kimura H.... Kashii S.	1994
8	An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)	Baldwin C.T.... Milunsky A.	1992
9	An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)	Jacobs J.M.... Wilson J.	1992
10	Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)	HolmstrAPm H.... Santanelli F.	1991
11	Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)	Newton V.	1990
12	Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)	Cantani A.... Tacconi M.L.	1989
13	Genetic heterogeneity in Waardenburg's syndrome. (2738907)	Kulkarni M.L.... Panchakshariah M.S.	1989
14	Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)	Ortonne J.P.	1988
15	The eyes have it: Waardenburg's syndrome. (3468364)	Enright K.A.... Neelon F.A.	1986
16	Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)	Nork T.M.... Price J.	1986
17	Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)	Mallory S.B.... Nordlund J.J.	1986
18	Temporal bone involvement in Waardenburg's syndrome. (4042918)	Galich R.	1985
19	Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)	Rarey K.E.... Davis L.E.	1984
20	Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)	Schweitzer V.G.... Clack T.D.	1984
21	Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)	Super M.	1981
22	Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)	Parving A.... Mogensen C.	1981
23	Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)	Fried K.... Beer S.	1980
24	Waardenburg's syndrome. (7401140)	Arias S.	1980
25	A possible animal model for Waardenburg's syndrome. (468455)	Faith R.E.	1979
26	Waardenburg's syndrome. (519746)	Yalaburgi S.B.... Mistry P.K.	1979
27	Waardenburg's syndrome. (417897)	Poche G.W.... CHRISTIANSON H.B.	1978
28	Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)	Hageman M.J.	1977
29	Waardenburg's syndrome in a girl. (1150316)	Magotra M.L.... Anand V.R.	1975
30	The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)	Amer M.... El-Shazly M.	1974
31	Waardenburg's syndrome. Identification of patients. (4726720)	Greenwood R.D.	1973
32	Waardenburg's syndrome in two siblings and their parents. (5144909)	David T.J.	1971
33	Waardenburg's syndrome in an African child. (5444872)	Bwibo N.O.... Mkono M.D.	1970
34	Waardenburg's syndrome. (5801408)	Mahajan C.M.... Mehta S.	1969
35	Hypertelorism and Waardenburg's syndrome. (5801819)	Ulivelli A.... Silenzi M.	1969
36	Medial canthoplasty in a child with Waardenburg's syndrome. Case report. (5791340)	Davis D.G.	1969
37	A Chinese family with Waardenburg's syndrome. (4966266)	Chew K.L.... Tan K.H.	1968
38	Vestibular function and additional findings in Waardenburg's syndrome. (4870323)	Marcus R.E.	1968
39	Waardenburg's syndrome. (5658623)	Fanaroff A.A.... Levin S.E.	1968
40	Waardenburg's Syndrome in an Indian family. (5589484)	Pandit M.M.... Rao P.T.	1967
41	Waardenburg's syndrome. Report of a family. (6060805)	Cant J.S.... Martin A.J.	1967
42	Waardenburg's syndrome with fundus and other anomalies. (4958935)	Goldberg M.F.	1966
43	WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)	HANSEN A.C.... CRUMP E.P.	1965
44	WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)	ROBINSON G.C.... SOEPARDEN L.I.	1965
45	WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)	RUGEL S.J.... KEATES E.U.	1965
46	WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)	HOUGHTON N.I.	1964
47	Waardenburg's syndrome. (13947542)	Ghosh S.	1962
48	WAARDENBURG'S SYNDROME. (18170706)	Ray D.K.	1961
49	Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. (13722846)	DIGEORGE A.M.... HARLEY R.D.	1960
50	An English family with Waardenburg's syndrome. (13650669)	Partington M.W.	1959

Genes related to Waardenburg's Syndrome

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁷Clinvar, ⁴⁸Orphanet
See all sources

Genes related to Waardenburg's Syndrome:

- Elite gene

id	Symbol	Description	Score	Implication
1	PAX3	paired box 3	21.84	Pathogenic ⁷ GeneCards inferred via : Publications, Disorders, Gene name, Summaries (show sections)
2	EBP	emopamil binding protein (sterol isomerase)	17.50	Causative germline mutation ⁴⁸
3	MITF	microphthalmia-associated transcription factor	16.82	GeneCards inferred via : Disorders, Publications, Gene name, Summaries (show sections)
4	EDN3	endothelin 3	14.23	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
5	SOX10	SRY (sex determining region Y)-box 10	11.65	GeneCards inferred via : Publications, Disorders (show sections)
6	EDNRB	endothelin receptor type B	9.07	GeneCards inferred via : Publications, Disorders (show sections)
7	SNAI2	snail family zinc finger 2	6.55	GeneCards inferred via : Disorders (show sections)
8	TYR	tyrosinase	4.03	GeneCards inferred via : Publications, Disorders (show sections)

Products for genes related to Waardenburg's Syndrome disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	7	-	8	8
2	Novus Biologicals	7	8	8	-

Variations for Waardenburg's Syndrome

Sources:
⁷Clinvar
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Clinvar genetic disease variations for Waardenburg's Syndrome:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	PAX3	NM_181457.3(PAX3): c.238C> G (p.His80Asp)	single nucleotide variant	Pathogenic	rs387906947	GRCh37	Chr 2, 223161780: 223161780
2	PAX3	NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)	single nucleotide variant	Pathogenic	rs104893650	GRCh37	Chr 2, 223161869: 223161869
3	PAX3	NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)	single nucleotide variant	Pathogenic	rs104893651	GRCh37	Chr 2, 223161767: 223161767
4	PAX3	NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)	single nucleotide variant	Pathogenic	rs267606931	GRCh37	Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg's Syndrome

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg's Syndrome

Search GEO for disease gene expression data for Waardenburg's Syndrome.

Pathways for genes affiliated with Waardenburg's Syndrome

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ¹³EMD Millipore, ⁵²QIAGEN, ³⁰KEGG
See all sources

Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Regulation of retinoblastoma protein³⁷	9.7	MITF, PAX3
2	Transcription factors in neurogenesis¹³	9.6	PAX3, SOX10
3	Endothelins³⁷	9.4	EDNRB, EDN3
4	Kit Receptor Signaling Pathway³⁷ Show member pathways Signaling events mediated by Stem cell factor receptor (c-Kit)³⁷	9.2	SNAI2, MITF
5	Regulation of Wnt-mediated beta catenin signaling and target gene transcription³⁷	9.2	SNAI2, MITF
6	Melanocyte Development and Pigmentation⁵²	9.2	SOX10, PAX3, MITF
7	Basal cell carcinoma³⁰ Show member pathways Hedgehog signaling pathway³⁰ Melanogenesis³⁰	8.9	MITF, TYR, EDNRB
8	Neural Crest Differentiation³⁷	8.4	SNAI2, MITF, PAX3, SOX10

Compounds for genes affiliated with Waardenburg's Syndrome

Sources:
⁴⁴Novoseek, ²⁹IUPHAR, ¹²DrugBank, ²⁵HMDB, ⁶⁰Tocris Bioscience
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Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 22)

id	Compound	Score	Top Affiliating Genes
1	kojic acid⁴⁴	9.9	MITF, TYR
2	bq610⁴⁴	9.7	EDNRB, EDN3
3	pd 142893⁴⁴	9.7	EDNRB, EDN3
4	bq 3020⁴⁴ ²⁹	10.7	EDNRB, EDN3
5	hmba⁴⁴	9.7	MITF, TYR
6	irl 1620⁴⁴ ²⁹	10.7	EDNRB, EDN3
7	fr139317⁴⁴ ²⁹	10.7	EDNRB, EDN3
8	sarafotoxin⁴⁴	9.7	EDNRB, EDN3
9	tezosentan⁴⁴	9.7	EDNRB, EDN3
10	bq788⁴⁴ ²⁹	10.6	EDNRB, EDN3
11	bosentan⁴⁴ ¹²	10.6	EDN3, EDNRB
12	levodopa⁴⁴ ¹²	10.5	TYR, EDN3
13	phosphoramidon⁴⁴ ¹²	10.5	EDN3, EDNRB
14	phenylephrine⁴⁴ ²⁹ ²⁵ ¹²	12.4	EDN3, TYR
15	dopachrome⁴⁴	9.4	MITF, SOX10, TYR
16	bq123⁴⁴ ²⁹	10.2	TYR, EDN3, EDNRB
17	indomethacin⁴⁴ ²⁹ ⁶⁰ ¹²	12.0	EDNRB, EDN3, TYR
18	aspartate⁴⁴	8.9	TYR, EDN3, EDNRB
19	arginine⁴⁴	8.7	MITF, TYR, EDN3, EDNRB
20	glutamate⁴⁴	8.6	EDNRB, EDN3, TYR, MITF
21	adenylate⁴⁴	8.6	TYR, EDN3, EDNRB
22	tyrosine⁴⁴	7.6	EDNRB, EDN3, TYR, PAX3, MITF, SNAI2

GO Terms for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁷Gene Ontology
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Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	vein smooth muscle contraction	GO:014826	9.5	EDN3, EDNRB
2	vasoconstriction	GO:042310	9.5	EDN3, EDNRB
3	enteric nervous system development	GO:048484	9.4	EDNRB, SOX10
4	peripheral nervous system development	GO:007422	9.3	SOX10, EDNRB
5	positive regulation of cell proliferation	GO:008284	9.0	EDNRB, EDN3, PAX3
6	negative regulation of canonical Wnt signaling pathway	GO:090090	8.8	SNAI2, SOX10
7	neural crest cell migration	GO:001755	8.7	EDNRB, EDN3, SOX10, PAX3
8	negative regulation of transcription from RNA polymerase II promoter	GO:000122	8.7	SNAI2, PAX3, EDNRB
9	melanocyte differentiation	GO:030318	8.7	MITF, SOX10, EDN3, EDNRB

Molecular functions related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:003682	8.4	SNAI2, MITF, PAX3, SOX10
2	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	8.1	SNAI2, MITF, PAX3, SOX10