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

Summaries for Waardenburg's Syndrome

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²¹Genetics Home Reference, ⁴²NIH Rare Diseases, ⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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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: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome type i and waardenburg syndrome type 4. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Melanocyte Development and Pigmentation and Signaling events mediated by Stem cell factor receptor (c-Kit). The compounds pd 142893 and bq610 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Genetics Home Reference:²¹ 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:⁶³ Waardenburg syndrome (also Waardenburg more...

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

Aliases & Classifications for Waardenburg's Syndrome

Sources:
⁸Disease Ontology, ⁶³Wikipedia, ⁴²NIH Rare Diseases, ²¹Genetics Home Reference, ¹⁰DISEASES, ⁴⁴Novoseek, ⁶⁰UMLS, ⁴⁶OMIM, ³⁹NCIt, ⁵⁶SNOMED-CT, ³⁴MeSH
See all sources

Aliases & Descriptions:

waardenburg's syndrome ⁸ ²¹

waardenburg syndrome ⁸ ⁶³ ⁴² ²¹

van der hoeve halbertsma waardenburg gualdi syndrome ⁴² ⁶⁰

waardenburgs syndrome ¹⁰ ⁴⁴

van der hoeve halbertsona waardenburg syndrome ⁸

waardenburg, types i and/or ii ⁸

waardenburg syndrome, type i ⁶⁰

mende syndrome ⁴²

External Ids:

Disease Ontology⁸ DOID:9258

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

SNOMED-CT⁵⁶ 47434006

NCIt³⁹ C85222

MeSH³⁴ D014849

UMLS⁶⁰ C0043008

Related Diseases for Waardenburg's Syndrome

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
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Diseases in the Waardenburg Syndrome Type I family:

waardenburg's syndrome	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type 3	Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2a	Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type Iva	Waardenburg Syndrome Type Ivb
Waardenburg Syndrome Type Ivc	Waardenburg Syndrome Type Iic
Waardenburg Syndrome Type Iie	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 81)

id	Related Disease	Score	Top Affiliating Genes
1	waardenburg syndrome type i	30.8	PAX3
2	waardenburg syndrome type 4	30.6	SOX10, EDNRB, EDN3, MITF, RET
3	microphthalmia	30.5	TFE3, TYR, TYRP1, MITF, PAX3
4	albinism	30.3	TYR, TYRP1
5	piebaldism	30.3	PAX3, MITF, SNAI2
6	ocular albinism	30.2	MITF, TYR
7	waardenburg syndrome type 3	10.6
8	waardenburg syndrome type 2a	10.6
9	waardenburg syndrome type iva	10.6
10	waardenburg syndrome type 2	10.5
11	waardenburg syndrome type ivb	10.4
12	waardenburg syndrome type ivc	10.4
13	waardenburg syndrome type iid	10.4
14	waardenburg syndrome type 2b	10.4
15	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.3
16	waardenburg syndrome type iic	10.3
17	waardenburg syndrome type iie	10.3
18	waardenburg syndrome, type 2e, with or without neurologic involvement	10.3
19	waardenburg syndrome/ocular albinism, digenic	10.2
20	waardenburg syndrome/albinism, digenic	10.2
21	megacolon	10.1
22	spina bifida	10.1
23	anophthalmos with limb anomalies	10.1
24	pcwh syndrome	10.1
25	syndactyly	10.0
26	meningocele	10.0
27	cleft lip	10.0
28	duchenne muscular dystrophy	10.0
29	cleft palate	10.0
30	down syndrome	10.0
31	amblyopia	10.0
32	exotropia	10.0
33	muscular dystrophy	10.0
34	heterochromia iridis	10.0
35	pendred syndrome	10.0	GJB2
36	vogt-koyanagi-harada disease	10.0	TYR
37	pituitary adenoma	10.0	RET
38	autosomal dominant disease	10.0	RET
39	lung cancer	10.0	FN1
40	angiomyolipoma	10.0	MITF, TYR
41	papilloma	10.0	GJB2
42	pigmentation disease	10.0	TYR, MITF
43	proliferative vitreoretinopathy	10.0	FN1
44	neural tube defects	10.0	PAX3
45	neurofibroma	10.0	SOX10, MITF
46	skin disease	10.0	FN1, ALPP
47	nonsyndromic deafness	10.0	GJB2
48	intestinal obstruction	10.0	RET, EDN3, EDNRB
49	adenoma	10.0	RET, EDN3, EDNRB
50	osteosarcoma	10.0	EDNRB, PAX3, ALPP

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

Clinical Features for Waardenburg's Syndrome

Sources:
⁴⁶OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Waardenburg's Syndrome

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
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Approved drugs:

Search CenterWatch for Waardenburg's Syndrome

Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Search CenterWatch for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

Anatomical Context for Waardenburg's Syndrome

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

³²

Eye, Skin, Bone, Pituitary

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 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	10.4	PAX3, MITF, TFE3
2	limbs/digits/tail phenotype	MP:0005371	10.1	SOX10, EDNRB, TYR, MITF, PAX3
3	endocrine/exocrine gland phenotype	MP:0005379	9.7	SOX10, TYR, RET, PAX3
4	tumorigenesis	MP:0002006	9.6	EDNRB, FN1, TYR, TYRP1, RET, PAX3
5	hearing/vestibular/ear phenotype	MP:0005377	9.5	EDNRB, TYRP1, MITF, GJB2, PAX3
6	vision/eye phenotype	MP:0005391	9.5	TFE3, EDNRB, SNAI2, TYR, TYRP1, MITF
7	no phenotypic analysis	MP:0003012	9.4	EDNRB, TYR, MITF, RET, GJB2, PAX3
8	digestive/alimentary phenotype	MP:0005381	9.4	SOX10, EDNRB, EDN3, SNAI1, SNAI2, RET
9	craniofacial phenotype	MP:0005382	9.1	TFE3, EDNRB, SNAI1, SNAI2, FN1, TYRP1
10	reproductive system phenotype	MP:0005389	9.1	SNAI2, FN1, TYR, TYRP1, MITF, RET
11	integument phenotype	MP:0010771	9.1	EDN3, EDNRB, TFE3, SOX10, SNAI2, FN1
12	behavior/neurological phenotype	MP:0005386	9.1	SOX10, EDNRB, EDN3, SNAI2, TYR, TYRP1
13	cardiovascular system phenotype	MP:0005385	9.1	EDNRB, SNAI1, FN1, TYR, RET, GJB2
14	cellular phenotype	MP:0005384	9.0	EDNRB, SNAI1, SNAI2, FN1, TYR, RET
15	skeleton phenotype	MP:0005390	9.0	TFE3, EDNRB, SNAI1, SNAI2, FN1, TYR
16	immune system phenotype	MP:0005387	9.0	FN1, SNAI2, EDNRB, TFE3, TYR, MITF
17	embryogenesis phenotype	MP:0005380	8.9	SOX10, EDNRB, EDN3, SNAI1, SNAI2, FN1
18	normal phenotype	MP:0002873	8.7	SOX10, TFE3, SNAI1, SNAI3, FN1, TYR
19	nervous system phenotype	MP:0003631	8.7	SNAI2, SNAI1, EDN3, EDNRB, SOX10, FN1
20	growth/size phenotype	MP:0005378	8.4	FN1, SNAI2, SNAI1, EDNRB, TFE3, SOX10
21	mortality/aging	MP:0010768	8.3	SNAI2, SNAI1, EDN3, EDNRB, TFE3, SOX10

Publications for Waardenburg's Syndrome

Sources:
⁵⁰PubMed
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Articles related to Waardenburg's Syndrome:

(show top 50) (show all 95)

id	Title	Authors	Year
1	Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/blind in Kaduna-Nigeria. (21970256)	Ahmed A.O.... Abubakar A.	2011
2	Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)	Jutras B.... Chapdelaine M.	2003
3	Temporal bone imaging findings in Waardenburg's syndrome. (11335009)	Oysu C.... Tinaz M.	2001
4	Otopathology in a case of type I Waardenburg's syndrome. (11558766)	Merchant S.N.... Nadol J.B.	2001
5	Partial anodontia in a case of Waardenburg's syndrome. (10605569)	Bandyopadhyay S.... Singhania P.K.	1999
6	Waardenburg's syndrome. (20952962)	Yesudian D.P.... Yesudian P.	1995
7	Waardenburg's syndrome and pituitary tumor. (7887168)	Kimura H.... Kashii S.	1994
8	Waardenburg's syndrome. (7941767)	Parsons G.... Mokela D.	1993
9	An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)	Baldwin C.T.... Milunsky A.	1992
10	An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)	Jacobs J.M.... Wilson J.	1992
11	Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (1347148)	Tassabehji M.... Strachan T.	1992
12	Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)	Newton V.	1990
13	Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. (2609099)	Newton V.E.	1989
14	Temporal bone involvement in Waardenburg's syndrome. (4042918)	Galich R.	1985
15	Waardenburg's syndrome associated with total aganglionosis. (6651333)	Farndon P.A.... Bianchi A.	1983
16	Waardenburg's syndrome: variations in expressivity. (6793979)	Wang L.... Pashayan H.	1981
17	Waardenburg's syndrome. (7203595)	Joseph T.A.... Chakravarthy K.S.	1980
18	Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)	Fried K.... Beer S.	1980
19	Waardenburg's syndrome. (6970403)	HybA!sek I.	1980
20	Waardenburg's syndrome. (519746)	Yalaburgi S.B.... Mistry P.K.	1979
21	Waardenburg's syndrome. (115785)	Boparai M.S.... Sohi A.S.	1979
22	Waardenburg's syndrome in Kenyan Africans. (675827)	Hageman M.J.	1978
23	Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)	Hageman M.J.	1977
24	The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)	Amer M.... El-Shazly M.	1974
25	Waardenburg's syndrome. Identification of patients. (4726720)	Greenwood R.D.	1973
26	Waardenburg's syndrome in two siblings and their parents. (5144909)	David T.J.	1971
27	Waardenburg's syndrome and familial periodic paralysis. (5580938)	Tay C.H.	1971
28	Waardenburg's syndrome in an African child. (5444872)	Bwibo N.O.... Mkono M.D.	1970
29	A coloured family showing features of Waardenburg's syndrome. (5443890)	Rappoport A.S.	1970
30	Hypertelorism and Waardenburg's syndrome. (5801819)	Ulivelli A.... Silenzi M.	1969
31	Waardenburg's syndrome with bilateral cleft lip. (5765156)	Giacoia J.P.... Klein S.W.	1969
32	Waardenburg's syndrome. Report of a case with family studies. (5384113)	Majumdar D.K.	1969
33	Clinical, dermatoglyphic and chromosomal study of Waardenburg's syndrome. (5349887)	Shiono H.... Kadowaki J.	1969
34	Waardenburg's syndrome. (5350430)	Rapp Y.... Baxt S.	1969
35	A Chinese family with Waardenburg's syndrome. (4966266)	Chew K.L.... Tan K.H.	1968
36	Vestibular function and additional findings in Waardenburg's syndrome. (4870323)	Marcus R.E.	1968
37	Waardenburg's syndrome. (5658623)	Fanaroff A.A.... Levin S.E.	1968
38	Waardenburg's Syndrome in an Indian family. (5589484)	Pandit M.M.... Rao P.T.	1967
39	Waardenburg's syndrome during the first year of life. (6059431)	Feingold M.... Gellis S.S.	1967
40	Tomography of the inner ear in a case of Waardenburg's syndrome. (6073377)	Jensen J.	1967
41	Waardenburg's syndrome with fundus and other anomalies. (4958935)	Goldberg M.F.	1966
42	WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)	HANSEN A.C.... CRUMP E.P.	1965
43	WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)	ROBINSON G.C.... SOEPARDEN L.I.	1965
44	WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)	RUGEL S.J.... KEATES E.U.	1965
45	WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)	HOUGHTON N.I.	1964
46	WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION. (14166458)	Partington M.W.	1964
47	Waardenburg's syndrome. (14017880)	CALINIKOS J.	1963
48	Waardenburg's syndrome. (14010515)	AASVED H.	1962
49	WAARDENBURG'S SYNDROME. (18170706)	Ray D.K.	1961
50	An English family with Waardenburg's syndrome. (13650669)	Partington M.W.	1959

Genes related to Waardenburg's Syndrome

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Waardenburg's Syndrome:

(show all 32)

id	Symbol	Description	Score	Implication
1	PAX3	paired box 3	20.41	GeneCards inferred : Publications, Disorders, Gene name, Summaries (show sections)
2	MITF	microphthalmia-associated transcription factor	19.78	GeneCards inferred : Publications, Disorders, Gene name, Summaries (show sections)
3	EDN3	endothelin 3	19.13	GeneCards inferred : Publications, Disorders, Summaries (show sections)
4	SOX10	SRY (sex determining region Y)-box 10	18.48	GeneCards inferred : Publications, Disorders (show sections)
5	EDNRB	endothelin receptor type B	17.84	GeneCards inferred : Publications, Disorders (show sections)
6	SNAI2	snail family zinc finger 2	17.21	GeneCards inferred : Disorders (show sections)
7	TYR	tyrosinase	16.58	GeneCards inferred : Publications, Disorders, Proteins (show sections)
8	GJB2	gap junction protein, beta 2, 26kDa	15.94	GeneCards inferred : Publications, Disorders (show sections)
9	TYRP1	tyrosinase-related protein 1	15.31	GeneCards inferred : Disorders (show sections)
10	FN1	fibronectin 1	14.69	GeneCards inferred : Publications, Disorders (show sections)
11	GSK3B	glycogen synthase kinase 3 beta	14.06	GeneCards inferred : Publications, Disorders (show sections)
12	WS2C	Waardenburg syndrome, type IIC	13.49	GeneCards inferred : Disorders, Gene name (show sections)
13	WS2B	Waardenburg syndrome, type 2B	12.87	GeneCards inferred : Publications, Disorders, Gene name (show sections)
14	SEC23IP	SEC23 interacting protein	12.23	GeneCards inferred : Disorders, Summaries (show sections)
15	ALPP	alkaline phosphatase, placental	11.58	GeneCards inferred : Publications, Disorders (show sections)
16	TFE3	transcription factor binding to IGHM enhancer 3	10.95	GeneCards inferred : Publications, Disorders (show sections)
17	RET	ret proto-oncogene	10.32	GeneCards inferred : Publications, Disorders (show sections)
18	SNAI3	snail family zinc finger 3	9.69	GeneCards inferred : Disorders (show sections)
19	KIR2DS4	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	9.06	GeneCards inferred : Publications, Disorders (show sections)
20	SNAI1	snail family zinc finger 1	8.44	GeneCards inferred : Disorders (show sections)
21	ALPI	alkaline phosphatase, intestinal	7.80	GeneCards inferred : Publications, Disorders (show sections)
22	PAX1	paired box 1	7.17	GeneCards inferred : Disorders (show sections)
23	ONECUT2	one cut homeobox 2	6.55	GeneCards inferred : Disorders (show sections)
24	ASS1	argininosuccinate synthase 1	5.92	GeneCards inferred : Publications, Disorders (show sections)
25	PAX6	paired box 6	5.30	GeneCards inferred : Publications, Disorders (show sections)
26	COL6A3	collagen, type VI, alpha 3	4.67	GeneCards inferred : Publications, Disorders (show sections)
27	TFEC	transcription factor EC	4.05	GeneCards inferred : Disorders (show sections)
28	AEBP2	AE binding protein 2	3.42	GeneCards inferred : Disorders (show sections)
29	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	2.80	GeneCards inferred : Publications, Disorders (show sections)
30	POMC	proopiomelanocortin	2.17	GeneCards inferred : Publications, Disorders (show sections)
31	DMD	dystrophin	1.55	GeneCards inferred : Publications, Disorders (show sections)
32	TCF3	transcription factor 3	0.62	GeneCards inferred : Publications (show sections)

Products for genes related to Waardenburg's Syndrome disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	29	29	28
2	LSBio	-	-	32

Genetic Variations for Waardenburg's Syndrome

Expression for genes affiliated with Waardenburg's Syndrome

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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:
⁵¹QIAGEN, ³⁷NCBI BioSystems Database, ⁴Cell Signaling Technology, ²⁹KEGG
See all sources

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

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Melanocyte Development and Pigmentation⁵¹	10.1	PAX3, MITF, SOX10
2	Signaling events mediated by Stem cell factor receptor (c-Kit)³⁷ Hide members Kit Receptor Signaling Pathway³⁷	10.0	SNAI2, MITF, GSK3B
3	Wnt / Hedgehog / Notch⁴	9.9	SNAI1, SNAI2, GSK3B
4	Pathways in cancer²⁹	9.8	GSK3B, FN1, MITF, RET
5	Basal cell carcinoma²⁹ Hide members Melanogenesis²⁹	9.7	EDNRB, TYR, TYRP1, MITF, GSK3B
6	Neural Crest Differentiation³⁷	9.5	PAX3, GSK3B, MITF, SOX10, SNAI2, SNAI1

Compounds for genes affiliated with Waardenburg's Syndrome

Sources:
⁴⁴Novoseek, ²⁸IUPHAR, ²BitterDB, ²⁴HMDB, ¹¹DrugBank, ⁵⁹Tocris Bioscience, ⁴⁹PharmGKB
See all sources

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

(show all 39)

id	Compound	Score	Top Affiliating Genes
1	pd 142893⁴⁴	10.6	EDNRB, EDN3
2	bq610⁴⁴	10.6	EDNRB, EDN3
3	bq 3020⁴⁴ ²⁸	11.6	EDNRB, EDN3
4	dhica⁴⁴	10.5	TYR, TYRP1
5	tezosentan⁴⁴	10.5	EDNRB, EDN3
6	irl 1620⁴⁴ ²⁸	11.5	EDNRB, EDN3
7	fr139317⁴⁴ ²⁸	11.5	EDNRB, EDN3
8	sarafotoxin⁴⁴	10.5	EDNRB, EDN3
9	arbutin² ⁴⁴	11.5	TYR, TYRP1
10	bq788⁴⁴ ²⁸	11.5	EDNRB, EDN3
11	bq123⁴⁴ ²⁸	11.5	EDNRB, EDN3, TYR
12	dopaquinone⁴⁴ ²⁴	11.5	TYR, TYRP1
13	kojic acid⁴⁴	10.5	MITF, TYRP1, TYR
14	bosentan⁴⁴ ¹¹	11.4	FN1, EDN3, EDNRB
15	eumelanin⁴⁴	10.4	TYR, TYRP1
16	hmba⁴⁴	10.4	TYR, TYRP1, MITF
17	phenylphosphate⁴⁴ ¹¹	11.4	TYR, ALPP
18	dopachrome⁴⁴	10.3	MITF, TYRP1, TYR, SOX10
19	levodopa⁴⁴ ¹¹	11.2	TYRP1, TYR, EDN3
20	ibmx⁴⁴ ²⁸ ⁵⁹	12.2	ALPP, TYRP1, TYR, FN1
21	indomethacin⁴⁴ ⁵⁹ ²⁸ ¹¹	13.1	EDNRB, EDN3, FN1, TYR
22	agar⁴⁴	10.0	FN1, TYR, TYRP1, RET
23	methionine⁴⁴	10.0	EDN3, FN1, RET, GJB2
24	cyclic amp⁴⁴ ²⁴	10.9	GSK3B, RET, MITF, TYRP1, EDN3
25	potassium⁴⁴ ¹¹ ²⁴	11.9	GSK3B, GJB2, EDN3, EDNRB
26	aspartate⁴⁴	9.9	EDNRB, EDN3, TYR, RET, GJB2, ALPP
27	paraffin⁴⁴	9.9	FN1, TYR, MITF, RET, GJB2, ALPP
28	h2o2⁴⁴	9.8	EDNRB, FN1, TYR, TYRP1, ALPP
29	vegf⁴⁴	9.8	EDNRB, EDN3, FN1, TYR, RET, ALPP
30	arginine⁴⁴	9.7	EDNRB, EDN3, FN1, TYR, MITF, RET
31	oligonucleotide⁴⁴	9.7	EDN3, TYRP1, MITF, RET, PAX3
32	alanine⁴⁴	9.7	EDNRB, EDN3, FN1, TYR, RET, ALPP
33	testosterone⁴⁴ ⁵⁹ ¹¹ ²⁴	12.7	GSK3B, ALPP, RET, TYR, EDN3
34	retinoic acid⁴⁴ ²⁴	10.6	ALPP, KIR2DS4, GJB2, RET, TYR, FN1
35	serine⁴⁴	9.5	EDNRB, EDN3, FN1, TYR, TYRP1, RET
36	cysteine⁴⁴	9.5	EDNRB, FN1, TYR, TYRP1, RET, KIR2DS4
37	dexamethasone⁴⁴ ⁴⁹ ²⁸ ¹¹	12.4	EDNRB, EDN3, FN1, TYR, ALPP
38	calcium⁴⁴ ⁴⁹ ¹¹ ²⁴	12.0	EDNRB, EDN3, TYRP1, MITF, RET, GJB2
39	tyrosine⁴⁴	8.9	TYR, FN1, SNAI2, EDN3, EDNRB, TYRP1

GO Terms for genes affiliated with Waardenburg's Syndrome

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	melanosome membrane	GO:033162	10.2	TYRP1, TYR
2	endoplasmic reticulum-Golgi intermediate compartment	GO:005793	9.7	SEC23IP, GJB2, FN1

Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 19)

id	Name	GO ID	Score	Top Affiliating Genes
1	vein smooth muscle contraction	GO:014826	10.5	EDNRB, EDN3
2	posterior midgut development	GO:007497	10.4	EDNRB, RET
3	regulation of osteoclast differentiation	GO:045670	10.4	TFE3, MITF
4	negative regulation of vitamin D biosynthetic process	GO:010957	10.3	SNAI1, SNAI2
5	cartilage morphogenesis	GO:060536	10.3	SNAI2, SNAI1
6	vasoconstriction	GO:042310	10.3	EDN3, EDNRB
7	regulation of tight junction assembly	GO:2000810	10.3	SNAI1, SNAI2
8	enteric nervous system development	GO:048484	10.3	RET, EDNRB, SOX10
9	negative regulation of DNA damage response, signal transduction by p53 class mediator	GO:043518	10.3	SNAI2, SNAI1
10	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	GO:1902230	10.2	SNAI1, SNAI2
11	negative regulation of canonical Wnt receptor signaling pathway	GO:090090	10.2	GSK3B, SNAI2, SOX10
12	epithelial to mesenchymal transition	GO:001837	10.2	GSK3B, SNAI2, SNAI1
13	response to pain	GO:048265	10.2	RET, EDNRB
14	melanocyte differentiation	GO:030318	10.1	MITF, TYRP1, EDN3, EDNRB, SOX10
15	neural crest cell migration	GO:001755	10.0	SOX10, EDNRB, EDN3, RET, PAX3
16	positive regulation of cell migration	GO:030335	9.9	SNAI1, SNAI2, RET
17	cell migration	GO:016477	9.8	SNAI1, FN1, GSK3B
18	sensory perception of sound	GO:007605	9.8	SNAI2, GJB2, PAX3
19	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.7	GSK3B, PAX3, MITF, TFE3, SOX10

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

id	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:003682	9.9	SOX10, SNAI2, MITF, PAX3
2	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	9.8	MITF, SOX10, PAX3, SNAI2
3	copper ion binding	GO:005507	9.6	TYR, TYRP1, SNAI3