MCID: HRS035
MIFTS: 58

Hirschsprung Disease 1 malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Aliases & Classifications for Hirschsprung Disease 1

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 46 42 61
Hirschsprung Disease 8 19 42 20 21 44 48 61
Aganglionic Megacolon 8 19 42 21 48
Congenital Intestinal Aganglionosis 42 21 48 61
Hscr 19 42 21 48
Hirschsprung's Disease 8 42 21
Total Intestinal Aganglionosis 8 44
Hirschsprung Disease Type 1 42 22
Hirschsprungs Disease 10 22
Congenital Megacolon 8 21
Hirschsprung Disease, Susceptibility to, 1 9
 
Rare Form of Hirschsprung's Disease 42
Near-Total Intestinal Aganglionosis 42
Aganglionosis, Total Intestinal 42
Aganglionosis, Total Colonic 42
Transient Cerebral Ischemia 61
Transient Ischemic Attack 61
Pelvirectal Achalasia 8
Macrocolon 8
Hscr 1 42
Ntia 42
Tia 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (Ukraine),1-9/100000 (Austria),1-5/10000 (Malta),1-5/10000 (Norway),1-5/10000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM46 142623
Disease Ontology8 DOID:10487
NCIt39 C34700
MeSH33 D006627
ICD9CM27 751.3
Orphanet48 388
MESH via Orphanet34 D006627
ICD10 via Orphanet26 Q43.1
UMLS via Orphanet62 C0019569
ICD1025 Q43.1

Summaries for Hirschsprung Disease 1

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OMIM:46 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is... (142623) more...

MalaCards based summary: Hirschsprung Disease 1, also known as hirschsprung disease, is related to multiple endocrine neoplasia and multiple endocrine neoplasia iia, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hirschsprung Disease 1 is RET (ret proto-oncogene), and among its related pathways are Signaling events regulated by Ret tyrosine kinase and G protein signaling H RAS regulation pathway. The compounds thiorphan and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and bone, and related mouse phenotypes are pigmentation and cardiovascular system.

Disease Ontology:8 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

NIH Rare Diseases:42 Hirschsprung disease is a disease of the large intestine or colon. people with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. symptoms of hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. the symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. last updated: 10/17/2013

Genetics Home Reference:21 Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

GeneReviews summary for hirschsprung-ov

Related Diseases for Hirschsprung Disease 1

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Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 3 Hirschsprung Disease 2
Hirschsprung Disease 4 Ret-Related Hirschsprung Disease
Nrtn-Related Hirschsprung Disease Gdnf-Related Hirschsprung Disease
Ednrb-Related Hirschsprung Disease Edn3-Related Hirschsprung Disease
Ece1-Related Hirschsprung Disease

Diseases related to Hirschsprung Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 193)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia30.9RET, GDNF
2multiple endocrine neoplasia iia30.8RET, GDNF
3central hypoventilation syndrome, congenital30.6RET, EDNRB, EDN3
4waardenburg's syndrome30.2EDNRB, EDN3, RET
5waardenburg syndrome type 430.2EDNRB, RET, EDN3
6stroke, ischemic29.8ECE1, EDNRB, GDNF
7megacolon10.7
8transient cerebral ischemia10.6
9mini stroke10.5
10piebaldism10.5
11mowat-wilson syndrome10.4
12cerebritis10.4
13visceral myopathy10.3
14smith-lemli-opitz syndrome10.3
15hirschsprung disease 210.3
16mckusick-kaufman syndrome10.3
17cerebral creatine deficiency syndrome 110.3
18goldberg-shprintzen megacolon syndrome10.3
19hirschsprung disease type d brachydactyly10.3
20ring chromosome 1010.3
21mental retardation10.3
22atrial fibrillation10.3
23thyroiditis10.3
24moyamoya disease10.3
25carotid stenosis10.3
26duodenitis10.3
27duodenal obstruction10.3
28microcephaly10.2
29mowat-wilson syndrome due to monosomy 2q2210.2
30renal dysplasia10.2RET, GDNF
31neuroma10.2RET, GDNF
32renal hypodysplasia/aplasia 110.2GDNF, RET
33neurofibromatosis10.2GDNF, RET
34fabry disease10.2
35patent foramen ovale10.2
36amaurosis fugax10.2
37medullary thyroid carcinoma, familial10.2GDNF, RET
38neuroendocrine tumor10.2RET, GDNF
39hyperphosphatasia with mental retardation syndrome 110.2
40hirschsprung disease, cardiac defects, and autonomic dysfunction10.2
41acrofacial dysostosis 1, nager type10.2
42orofaciodigital syndrome v10.2
43waardenburg syndrome, type 110.2
44waardenburg syndrome, type 310.2
45neuroblastoma 210.2
46chromosome 4q32.1-q32.2 triplication syndrome10.2
47orofaciodigital syndrome vi10.2
48hirschsprung disease 310.2
49pallister-hall syndrome10.2
50cartilage-hair hypoplasia10.2

Graphical network of the top 20 diseases related to Hirschsprung Disease 1:



Diseases related to hirschsprung disease 1

Symptoms for Hirschsprung Disease 1

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Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

142623

Symptoms:

 48 (show all 17)
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • functional anomalies of the digestive system
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • constipation
  • intestinal obstruction/ileus
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • sensorineural deafness/hearing loss
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • polyposis of the bowel/colon/intestine
  • acute diarrhea
  • intestinal perforation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • thyroid neoplasm/tumor/carcinoma/cancer
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • sepsis severe/septicemia

HPO human phenotypes related to Hirschsprung Disease 1:

(show all 23)
id Description Frequency HPO Source Accession
1 nausea and vomiting hallmark (90%) HP:0002017
2 constipation hallmark (90%) HP:0002019
3 abdominal pain hallmark (90%) HP:0002027
4 aganglionic megacolon hallmark (90%) HP:0002251
5 intestinal obstruction hallmark (90%) HP:0005214
6 weight loss typical (50%) HP:0001824
7 sensorineural hearing impairment occasional (7.5%) HP:0000407
8 adducted thumb occasional (7.5%) HP:0001181
9 diarrhea occasional (7.5%) HP:0002014
10 short stature occasional (7.5%) HP:0004322
11 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
12 cognitive impairment occasional (7.5%) HP:0100543
13 sepsis occasional (7.5%) HP:0100806
14 intestinal polyposis occasional (7.5%) HP:0200008
15 autosomal dominant inheritance HP:0000006
16 abnormality of metabolism/homeostasis HP:0001939
17 vomiting HP:0002013
18 constipation HP:0002019
19 aganglionic megacolon HP:0002251
20 abdominal distention HP:0003270
21 enterocolitis HP:0004387
22 autosomal recessive inheritance HP:0000007
23 total intestinal aganglionosis HP:0005241

Drugs & Therapeutics for Hirschsprung Disease 1

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Drug clinical trials:

Search ClinicalTrials for Hirschsprung Disease 1

Search NIH Clinical Center for Hirschsprung Disease 1

Genetic Tests for Hirschsprung Disease 1

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Genetic tests related to Hirschsprung Disease 1:

id Genetic test Affiliating Genes
1 Hirschsprung Disease20 RET
2 Hirschsprung Disease 122
3 Hirschsprung's Disease22

Anatomical Context for Hirschsprung Disease 1

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MalaCards organs/tissues related to Hirschsprung Disease 1:

31
Colon, Thyroid, Bone

Animal Models for Hirschsprung Disease 1 or affiliated genes

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MGI Mouse Phenotypes related to Hirschsprung Disease 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9ECE1, EDN3, EDNRB
2MP:00053858.5RET, ECE1, EDNRB, GDNF
3MP:00053808.3EDNRB, EDN3, ECE1, RET
4MP:00053798.3GDNF, ECE1, RET, NRTN
5MP:00053697.8GDNF, EDNRB, ECE1, RET, NRTN
6MP:00053867.8NRTN, RET, EDN3, EDNRB, GDNF
7MP:00053877.8GDNF, EDNRB, ECE1, RET, NRTN
8MP:00107687.6GDNF, EDNRB, EDN3, ECE1, RET
9MP:00053817.3NRTN, RET, ECE1, EDN3, EDNRB, GDNF
10MP:00036317.3GDNF, EDNRB, EDN3, ECE1, RET, NRTN

Publications for Hirschsprung Disease 1

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Variations for Hirschsprung Disease 1

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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:

63 (show all 67)
id Symbol AA change Variation ID SNP ID
1RETp.Ser32LeuVAR_006295rs76764689
2RETp.Pro64LeuVAR_006296rs77596424
3RETp.Cys142SerVAR_006298
4RETp.Arg231HisVAR_006299rs79661516
5RETp.Glu251LysVAR_006300
6RETp.Arg287GlnVAR_006301
7RETp.Arg330GlnVAR_006302rs80236571
8RETp.Phe393LeuVAR_006303rs78098482
9RETp.Pro399LeuVAR_006304
10RETp.Arg475GlnVAR_006305rs138624658
11RETp.Cys609TyrVAR_006306rs77939446
12RETp.Cys609TrpVAR_006307
13RETp.Cys618ArgVAR_006311rs76262710
14RETp.Cys618SerVAR_006313rs79781594
15RETp.Cys620ArgVAR_006316
16RETp.Ser690ProVAR_006331
17RETp.Ser767ArgVAR_006334
18RETp.Arg873GlnVAR_006338
19RETp.Phe893LeuVAR_006339
20RETp.Arg897GlnVAR_006340rs76087194
21RETp.Lys907GluVAR_006341
22RETp.Glu921LysVAR_006343
23RETp.Arg972GlyVAR_006346rs76534745
24RETp.Pro973LeuVAR_006347
25RETp.Met980ThrVAR_006348
26RETp.Pro20LeuVAR_009459
27RETp.Arg77CysVAR_009460
28RETp.Phe174SerVAR_009462
29RETp.Arg180ProVAR_009463
30RETp.Cys197TyrVAR_009464
31RETp.Arg313GlnVAR_009465rs77702891
32RETp.Arg360TrpVAR_009467
33RETp.Asn394LysVAR_009468
34RETp.Cys620TrpVAR_009475
35RETp.Gln626LysVAR_009476
36RETp.Glu762GlnVAR_009481
37RETp.Tyr791PheVAR_009483rs77724903
38RETp.Arg813GlnVAR_009484
39RETp.Leu1061ProVAR_009490
40RETp.Met1064ThrVAR_009491
41RETp.Leu40ProVAR_009492
42RETp.Ser765ProVAR_009493rs75075748
43RETp.Arg114HisVAR_018154
44RETp.Val145GlyVAR_035711
45RETp.Arg114CysVAR_067101
46RETp.Pro155LeuVAR_067102
47RETp.Arg175ProVAR_067103
48RETp.Thr278AlaVAR_067104
49RETp.Thr278ProVAR_067105
50RETp.Asp300AsnVAR_067106
51RETp.Ser316IleVAR_067107
52RETp.Ser339LeuVAR_067108
53RETp.Asp353TyrVAR_067109
54RETp.Arg360GlnVAR_067110
55RETp.Val397MetVAR_067111rs183729115
56RETp.Val412MetVAR_067112
57RETp.Gly423ArgVAR_067113
58RETp.Glu480LysVAR_067114
59RETp.Glu595GlnVAR_067116
60RETp.Pro679LeuVAR_067117
61RETp.Arg694GlnVAR_067118rs141185224
62RETp.Asn783SerVAR_067119
63RETp.Gly830ArgVAR_067120rs200127630
64RETp.Lys907ThrVAR_067121
65RETp.Phe961LeuVAR_067122
66RETp.Leu1052ValVAR_067123
67RETp.Tyr1062CysVAR_067124

Clinvar genetic disease variations for Hirschsprung Disease 1:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.2293T> C (p.Ser765Pro)single nucleotide variantrisk factorrs75075748GRCh37Chr 10, 43613829: 43613829
2RETNM_020975.4(RET): c.406G> T (p.Glu136Ter)single nucleotide variantrisk factorrs79014735GRCh37Chr 10, 43597858: 43597858
3RETRET, 1-BP DEL, G1120deletionrisk factor
4RETNM_020975.4(RET): c.2690G> A (p.Arg897Gln)single nucleotide variantrisk factorrs76087194GRCh37Chr 10, 43615611: 43615611
5RETNM_020975.4(RET): c.2914A> G (p.Arg972Gly)single nucleotide variantrisk factorrs76534745GRCh37Chr 10, 43619231: 43619231
6RETNM_020975.4(RET): c.95C> T (p.Ser32Leu)single nucleotide variantrisk factorrs76764689GRCh37Chr 10, 43595928: 43595928
7RETNM_020975.4(RET): c.191C> T (p.Pro64Leu)single nucleotide variantrisk factorrs77596424GRCh37Chr 10, 43596024: 43596024
8RETNM_020975.4(RET): c.538C> T (p.Arg180Ter)single nucleotide variantrisk factorrs76449634GRCh37Chr 10, 43597990: 43597990
9RETNM_020975.4(RET): c.989G> A (p.Arg330Gln)single nucleotide variantrisk factorrs80236571GRCh37Chr 10, 43601945: 43601945
10RETNM_020975.4(RET): c.1179C> A (p.Phe393Leu)single nucleotide variantrisk factorrs78098482GRCh37Chr 10, 43604594: 43604594
11RETNM_020975.4(RET): c.938G> A (p.Arg313Gln)single nucleotide variantrisk factorrs77702891GRCh37Chr 10, 43601894: 43601894
12RETNM_020975.4(RET): c.692G> A (p.Arg231His)single nucleotide variantrisk factorrs79661516GRCh37Chr 10, 43600466: 43600466
13RETNM_020975.4(RET): c.2944C> T (p.Arg982Cys)single nucleotide variantrisk factorrs17158558GRCh37Chr 10, 43620335: 43620335
14RETNM_020630.4(RET): c.1941C> T (p.Ile647=)single nucleotide variantrisk factorrs75225191GRCh37Chr 10, 43609989: 43609989
15RETNM_020975.4(RET): c.135G> A (p.Ala45=)single nucleotide variantrisk factorrs1800858GRCh37Chr 10, 43595968: 43595968
16RETNM_020630.4(RET): c.73+9277T> Csingle nucleotide variantrisk factorrs2435357GRCh37Chr 10, 43582056: 43582056
17NM_000115.3(EDNRB): c.824G> A (p.Trp275Ter)single nucleotide variantrisk factorrs104894389GRCh37Chr 13, 78475320: 78475320
18EDNRBEDNRB, 1-BP INS, 878Tinsertionrisk factor
19EDNRBNM_000115.3(EDNRB): c.169G> A (p.Gly57Ser)single nucleotide variantrisk factorrs1801710GRCh37Chr 13, 78492540: 78492540
20NM_000115.3(EDNRB): c.914G> A (p.Ser305Asn)single nucleotide variantrisk factorrs5352GRCh37Chr 13, 78475230: 78475230
21EDNRBNM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter)single nucleotide variantrisk factorrs267606780GRCh37Chr 13, 78493708: 78493708
22EDN3NM_000114.2(EDN3): c.49G> A (p.Ala17Thr)single nucleotide variantrisk factorrs11570255GRCh37Chr 20, 57875916: 57875916
23EDN3NM_000114.2(EDN3): c.670G> A (p.Ala224Thr)single nucleotide variantrisk factorrs11570351GRCh37Chr 20, 57899467: 57899467
24EDN3EDN3, 1-BP INS, 262Ginsertionrisk factor
25RETNM_020630.4(RET): c.1880-2A> Gsingle nucleotide variantLikely pathogenicrs193922699GRCh37Chr 10, 43609926: 43609926
26GDNFNM_000514.3(GDNF): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112
27GDNFNM_000514.3(GDNF): c.448G> A (p.Asp150Asn)single nucleotide variantrisk factorrs76466003GRCh37Chr 5, 37815941: 37815941
28GDNFNM_000514.3(GDNF): c.460A> T (p.Thr154Ser)single nucleotide variantrisk factorrs104893891GRCh37Chr 5, 37815929: 37815929
29GDNFNM_000514.3(GDNF): c.633C> G (p.Ile211Met)single nucleotide variantrisk factorrs121918536GRCh37Chr 5, 37815756: 37815756

Expression for genes affiliated with Hirschsprung Disease 1

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Search GEO for disease gene expression data for Hirschsprung Disease 1.

Pathways for genes affiliated with Hirschsprung Disease 1

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Compounds for genes affiliated with Hirschsprung Disease 1

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Compounds related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

(show all 48)
idCompoundScoreTop Affiliating Genes
1thiorphan44 28 1111.8EDN3, ECE1
2pd 142893449.8EDN3, EDNRB
3bq610449.8EDNRB, EDN3
4bq 302044 2810.8EDNRB, EDN3
5sarafotoxin449.8EDN3, EDNRB
6irl 162044 2810.8EDNRB, EDN3
7tezosentan449.8EDN3, EDNRB
8fr13931744 2810.8EDN3, EDNRB
9bq78844 2810.7EDNRB, EDN3
10bq12344 2810.7EDNRB, EDN3
11bosentan44 1110.7EDN3, EDNRB
12captopril44 60 50 28 1113.7EDN3, ECE1
13dbc-amp449.7EDN3, GDNF
14catecholamine449.7GDNF, RET
15levodopa44 1110.6EDN3, GDNF
16melatonin44 28 60 24 1113.6EDNRB, GDNF
176-hydroxydopamine449.5NRTN, GDNF
18mptp449.5GDNF, NRTN
19cyclic amp44 2410.3GDNF, EDN3, RET
20phosphoramidon44 1110.3EDNRB, ECE1, EDN3
21prostacyclin449.2EDN3, EDNRB, ECE1
22choline44 24 1111.2RET, NRTN, GDNF
23norepinephrine44 24 1111.2EDN3, GDNF, EDNRB
24heparan sulfate44 2410.2RET, NRTN, GDNF
25potassium44 24 1111.2GDNF, EDN3, EDNRB
26indomethacin44 28 60 1112.1EDN3, EDNRB, ECE1
27adenylate449.1GDNF, EDNRB, EDN3
28atp44 2810.1RET, EDN3, GDNF
29cgmp44 2810.0EDNRB, EDN3
30dexamethasone44 50 28 1112.0GDNF, EDNRB, EDN3
31oligonucleotide449.0GDNF, EDN3, ECE1, RET
32arginine448.9RET, EDNRB, EDN3
33aspartate448.9EDN3, EDNRB, GDNF, RET
34zinc44 249.9EDN3, GDNF, ECE1
35phosphatidylinositol448.8EDN3, RET, EDNRB, GDNF
36alanine448.8EDNRB, RET, EDN3, GDNF
37cysteine448.8RET, GDNF, ECE1, EDNRB
38nitric oxide44 24 1110.7GDNF, EDN3, EDNRB, ECE1
39pd 98,059448.7RET, ECE1, GDNF, NRTN
40dopamine44 28 24 1111.7GDNF, NRTN, RET, EDN3
41glucose448.7ECE1, EDN3, GDNF, EDNRB
42retinoic acid44 249.5NRTN, RET, GDNF, EDNRB
43acetylcholine44 50 28 24 1112.5NRTN, EDN3, GDNF, EDNRB
44glutamate448.4EDN3, NRTN, GDNF, EDNRB
45vegf448.4RET, ECE1, EDN3, EDNRB, GDNF
46serine448.4EDNRB, GDNF, EDN3, ECE1, RET
47calcium44 50 24 1111.3GDNF, EDNRB, EDN3, ECE1, RET
48tyrosine448.0GDNF, EDNRB, NRTN, EDN3, RET

GO Terms for genes affiliated with Hirschsprung Disease 1

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Cellular components related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451219.4RET, EDNRB

Biological processes related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:00074979.7EDNRB, RET
2regulation of systemic arterial blood pressure by endothelinGO:00031009.7ECE1, EDN3
3response to painGO:00482659.7EDNRB, RET
4regulation of vasoconstrictionGO:00192299.6EDN3, ECE1
5vein smooth muscle contractionGO:00148269.6EDN3, EDNRB
6vasoconstrictionGO:00423109.5EDNRB, EDN3
7melanocyte differentiationGO:00303189.4EDN3, EDNRB
8transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.3NRTN, RET
9enteric nervous system developmentGO:00484849.3RET, EDNRB, GDNF
10MAPK cascadeGO:00001659.2RET, NRTN
11neuron projection developmentGO:00311759.1NRTN, GDNF
12signal transductionGO:00071659.1RET, EDN3, GDNF
13cell surface receptor signaling pathwayGO:00071669.0EDN3, EDNRB
14nervous system developmentGO:00073998.7NRTN, EDNRB, GDNF
15neural crest cell migrationGO:00017557.9NRTN, RET, EDN3, EDNRB, GDNF

Molecular functions related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:00170469.2ECE1, EDNRB
2growth factor activityGO:00080839.2NRTN, GDNF
3receptor bindingGO:00051028.4NRTN, EDN3, GDNF

Sources for Hirschsprung Disease 1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet