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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	megacolon	go back to main search page
Accession:	DOID:11372	browse the term
Definition:	A colonic disease that is characterized by an abnormal dilation of the colon. (DO)
Synonyms:	exact_synonym:	dilatation of colon; megacolons
	primary_id:	MESH:D008531
	xref:	ICD10CM:K59.39; NCI:C34810
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (409 ) Mouse (404 ) Human (4117 ) Chinchilla (349 ) Bonobo (410 ) Dog (397 ) Squirrel (365 ) Pig (390 ) Green Monkey (376) Naked Mole-rat (339 ) All
Genes (403) QTL (2) Strains (4)

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ATP binding cassette subfamily F member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433

G

abhydrolase domain containing 16A, phospholipase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927

G

AHNAK nucleoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926

G

allograft inflammatory factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

AIF family member 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248

G

AKT serine/threonine kinase 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

adaptor related protein complex 5 subunit zeta 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511

G

apolipoprotein M

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550

G

amyloid beta precursor protein binding protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835

G

Rho GTPase activating protein 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548

G

ARVCF, delta catenin family member

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805

G

N-acylsphingosine amidohydrolase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162

G

alpha tubulin acetyltransferase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,849,399...2,862,614
Ensembl chr20:2,844,616...2,861,964

G

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889

G

ATPase H+ transporting V1 subunit C2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028

G

ATPase H+ transporting V1 subunit G2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481

G

BAG cochaperone 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657

G

BCAS3, microtubule associated cell migration factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080

G

BRCA1 interacting DNA helicase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

similar to human chromosome 22 open reading frame 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235

G

similar to human chromosome 10 open reading frame 53

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,634,207...7,644,876
Ensembl chr16:7,634,207...7,644,876

G

similar to human chromosome 10 open reading frame 71

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,910,597...7,961,900
Ensembl chr16:7,910,433...7,961,958

G

similar to human chromosome 6 open reading frame 136

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,857,840...2,861,952

G

similar to human chromosome 6 open reading frame 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886

G

C2 calcium-dependent domain containing 4B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328

G

similar to human chromosome 4 open reading frame 46

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:164,762,994...164,766,126
Ensembl chr 2:164,762,960...164,766,128

G

similar to human chromosome 1 open reading frame 174

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:164,515,578...164,520,022
Ensembl chr 5:164,515,559...164,520,021

G

carbonic anhydrase 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501

G

coiled-coil alpha-helical rod protein 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308

G

cell division cycle 45

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619

G

cadherin 17

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:25,262,820...25,314,884
Ensembl chr 5:25,262,758...25,314,884

G

corneodesmosin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250

G

centrosomal protein 83

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574

G

CF transmembrane conductance regulator

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

choline O-acetyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093

G

CHD1 helical C-terminal domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542

G

claudin 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351

G

claudin 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992

G

C-X9-C motif containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160

G

collagen type III alpha 1 chain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

catechol-O-methyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

cysteine-rich secretory protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:20,107,649...20,131,967
Ensembl chr 9:20,107,701...20,131,959

G

CRK like proto-oncogene, adaptor protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238

G

casein kinase 2 beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

cortexin domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:138,495,689...138,547,105
Ensembl chr 1:138,495,716...138,547,754

G

discoidin domain receptor tyrosine kinase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

DExD-box helicase 39B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996

G

desmin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DNA fragmentation factor subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628

G

DiGeorge syndrome critical region gene 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502

G

DiGeorge syndrome critical region gene 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823

G

DGCR8 microprocessor complex subunit

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242

G

DEAH-box helicase 16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948

G

dynein, axonemal, heavy chain 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:1,936,354...2,092,663
Ensembl chr16:1,937,817...2,092,664

G

dorsal root ganglia homeobox

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,854,849...7,884,404
Ensembl chr16:7,854,849...7,900,600

G

endothelin receptor type B

IAGP

RGD

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

ERCC excision repair 6, chromatin remodeling factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

ess-2 splicing factor homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846

G

electron transfer flavoprotein dehydrogenase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745

G

family with sequence similarity 170, member B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,101,914...8,104,724
Ensembl chr16:8,101,914...8,104,705

G

fragile histidine triad diadenosine triphosphatase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

filaggrin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:178,884,793...178,912,986

G

flotillin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978

G

fibronectin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

G

forkhead box K1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:12,110,119...12,175,089
Ensembl chr12:12,115,950...12,175,089

G

FERM and PDZ domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,757,642...8,877,307
Ensembl chr16:8,757,705...8,877,303

G

FUN14 domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345

G

G4 protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088

G

gamma-aminobutyric acid type B receptor subunit 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994

G

polypeptide N-acetylgalactosaminyltransferase 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140

G

GTP binding protein overexpressed in skeletal muscle

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:25,214,309...25,225,222
Ensembl chr 5:25,214,309...25,225,222

G

G protein subunit beta 1 like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466

G

G protein nucleolar 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,783,130...2,792,115
Ensembl chr20:2,778,985...2,792,115

G

glycoprotein Ib platelet subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

G patch domain and ankyrin repeats 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858

G

glutathione peroxidase 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,436,126...43,443,074
Ensembl chr17:43,416,340...43,443,074

G

glutathione peroxidase 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091

G

goosecoid homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126

G

general transcription factor 2H subunit 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984

G

HEAT repeat containing 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105

G

HIC ZBTB transcriptional repressor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484

G

histone cell cycle regulator

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529

G

immediate early response 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583

G

INO80 complex subunit D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242

G

integrator complex subunit 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,031,647...71,079,138
Ensembl chr10:71,031,647...71,079,076

G

kelch-like family member 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770

G

killer cell lectin like receptor G1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424

G

lysine methyltransferase 2C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

L3MBTL histone methyl-lysine binding protein 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774

G

leucine rich repeat and Ig domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:50,370,744...51,687,252
Ensembl chr 5:50,367,101...50,516,956

G

leucine rich repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,253,524...8,277,141
Ensembl chr16:8,254,352...8,277,437

G

leukocyte specific transcript 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997

G

lymphotoxin alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

lymphotoxin beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381

G

lymphocyte antigen 6 family member G5B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133

G

lymphocyte antigen 6 family member G5C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608

G

lymphocyte antigen 6 family member G6D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248

G

lymphocyte antigen 6 family member G6F

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248

G

leucine zipper like post translational regulator 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

mitogen-activated protein kinase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981

G

MAS1 proto-oncogene like, G protein-coupled receptor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:47,871,592...47,879,942

G

mediator of DNA damage checkpoint 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,893,693...2,912,394
Ensembl chr20:2,895,505...2,910,240

G

mediator complex subunit 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362

G

MHC class I polypeptide-related sequence B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827

G

MHC I like leukocyte 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930

G

microRNA 877

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,811,476...2,811,560
Ensembl chr20:2,811,476...2,811,560

G

monocyte to macrophage differentiation-associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773

G

myelin oligodendrocyte glycoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474

G

MORC family CW-type zinc finger 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:52,178,769...52,384,255
Ensembl chr11:52,178,769...52,384,255

G

mitochondrial ribosomal protein L40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233

G

mitochondrial ribosomal protein S18B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,838,174...2,844,260
Ensembl chr20:2,838,030...2,844,260

G

microseminoprotein, beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,366,536...7,387,124
Ensembl chr16:7,366,536...7,387,123

G

mature T-cell proliferation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:126,189...130,123

G

metaxin 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201

G

mucin like 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569

G

nuclear receptor coactivator 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641

G

natural cytotoxicity triggering receptor 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799

G

NADH:ubiquinone oxidoreductase core subunit S1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893

G

NFKB inhibitor like 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616

G

NFKB activating protein-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,135,096...43,136,613
Ensembl chr17:43,135,096...43,136,613

G

nucleolar protein 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 6:40,144,217...40,225,353
Ensembl chr 6:40,144,235...40,225,353

G

nurim

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,888,321...2,892,804
Ensembl chr20:2,877,567...2,891,802

G

oxoglutarate dehydrogenase L

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,578,343...7,604,385
Ensembl chr16:7,578,367...7,604,386

G

olfactory receptor family 10 subfamily C member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,370,602...1,371,540
Ensembl chr20:1,370,586...1,371,563

G

olfactory receptor family 11 subfamily A member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,354,527...1,355,468
Ensembl chr20:1,353,852...1,360,783

G

olfactory receptor family 12 subfamily D member 14C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,296,642...1,297,532
Ensembl chr20:1,296,470...1,297,620
Ensembl chr20:1,296,470...1,297,620

G

olfactory receptor family 12 subfamily D member 17

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:992,771...993,736
Ensembl chr20:990,631...1,000,725

G

olfactory receptor family 14 subfamily J member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:689,684...690,646
Ensembl chr20:685,475...692,605

G

olfactory receptor family 2 subfamily H member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,445,980...1,446,918
Ensembl chr20:1,444,837...1,449,341

G

olfactory receptor family 2 subfamily H member 2C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,398,964...1,399,902
Ensembl chr20:1,395,108...1,400,441

G

olfactory receptor family 2 subfamily J member 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:253,033...253,971
Ensembl chr20:250,990...256,328

G

olfactory receptor family 2 subfamily W member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,611,986...43,612,939
Ensembl chr17:43,608,678...43,616,084

G

olfactory receptor family 5 subfamily V member 1B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,158,073...1,159,026
Ensembl chr20:1,151,540...1,159,222

G

otogelin-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592

G

purinergic receptor P2X 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481

G

poly (ADP-ribose) glycohydrolase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273

G

pericentrin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710

G

piggyBac transposable element derived 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,168,275...43,198,738

G

phosphatidylinositol 4-kinase alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080

G

RNA polymerase I subunit H

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,594,936...1,598,854
Ensembl chr20:1,594,936...1,598,854

G

POU class 5 homeobox 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

G

peptidylprolyl isomerase D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:164,727,803...164,740,168
Ensembl chr 2:164,727,779...164,740,221

G

protein phosphatase, Mg2+/Mn2+ dependent, 1D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607

G

protein phosphatase 1, regulatory subunit 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,822,995...2,838,125
Ensembl chr20:2,822,995...2,837,611

G

protein phosphatase 1, regulatory (inhibitor) subunit 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,606,583...1,610,090
Ensembl chr20:1,601,346...1,604,846

G

protein phosphatase 1, regulatory subunit 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,877,567...2,887,526
Ensembl chr20:2,877,567...2,891,802

G

proline dehydrogenase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305

G

proline rich 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,792,868...2,799,865
Ensembl chr20:2,792,860...2,799,865

G

proline-rich coiled-coil 2A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130

G

psoriasis susceptibility 1 candidate 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599

G

Rap associating with DIL domain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540

G

RAN binding protein 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838

G

RB-associated KRAB zinc finger

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934

G

ret proto-oncogene

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

ring finger protein 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,610,027...1,615,516
Ensembl chr20:1,604,794...1,610,283

G

ribonuclease P/MRP subunit p21

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,018,170...2,020,100
Ensembl chr20:2,018,147...2,020,106

G

RT1 class Ia, locus A2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:4,870,939...4,910,183

G

RT1 class I, locus CE16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

RT1 class I, locus CE5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,403,418...3,479,476

G

RT1 class Ib, locus M3, gene 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117

G

reticulon 4 receptor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466

G

relaxin family peptide receptor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:164,772,270...164,893,484
Ensembl chr 2:164,774,799...164,893,412

G

scavenger receptor class F, member 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348

G

sidekick cell adhesion molecule 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:12,378,074...13,363,934
Ensembl chr12:12,380,524...13,363,976

G

septin 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393

G

serpin family D member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519

G

surfactant associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299

G

sphingomyelin synthase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603

G

solute carrier family 18 member A3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,713,630...7,716,491

G

solute carrier family 25 member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781

G

solute carrier family 25 member 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902

G

solute carrier family 29 member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834

G

solute carrier family 6 member 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875

G

solute carrier family 7, member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881

G

solute carrier family 8 member A1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megacolon

PMID:15185227 PMID:17560225 PMID:21681106

NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628

G

synaptosome associated protein 29

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958

G

SWT1 RNA endoribonuclease homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:63,452,494...63,509,982
Ensembl chr13:63,452,496...63,509,980

G

transport and golgi organization 2 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574

G

T-box transcription factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

T-box transcription factor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529

G

T-box transcription factor 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825

G

transcription factor 19

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271

G

THAP domain containing 7

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436

G

translocase of inner mitochondrial membrane 23

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
Ensembl chr 3:7,409,688...7,436,379
Ensembl chr 6:7,409,688...7,436,379

G

transmembrane protein 132C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:29,115,213...29,437,900
Ensembl chr12:29,116,467...29,437,870

G

transmembrane protein 273

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,049,565...8,081,981
Ensembl chr16:8,049,669...8,081,981

G

thioredoxin-related transmembrane protein 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263

G

tumor necrosis factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

trinucleotide repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384

G

T cell receptor associated transmembrane adaptor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:52,035,750...52,077,805
Ensembl chr11:52,035,750...52,077,805

G

tripartite motif-containing 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,694,771...1,703,724
Ensembl chr20:1,689,562...1,698,252

G

tripartite motif containing 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,700,905...1,710,249
Ensembl chr20:1,700,905...1,710,249

G

tripartite motif-containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,711,564...1,736,389
Ensembl chr20:1,709,788...1,731,120

G

tripartite motif-containing 27

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:48,233,999...48,246,348
Ensembl chr17:43,538,285...43,550,643

G

tripartite motif-containing 31

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,658,386...1,671,711
Ensembl chr20:1,653,165...1,666,494

G

tripartite motif-containing 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,008,528...2,022,383
Ensembl chr20:1,983,533...2,020,117

G

tripartite motif-containing 40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,680,554...1,691,123
Ensembl chr20:1,676,270...1,685,214

G

tRNA methyltransferase 1-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:63,510,097...63,543,268
Ensembl chr13:63,510,204...63,543,266

G

tRNA methyltransferase 2 homolog A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336

G

testis-specific serine kinase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:83,086,578...83,087,933

G

tubulin, beta 5 class I

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940

G

thioredoxin reductase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

G

ubiquitin D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639

G

ubiquitin recognition factor in ER associated degradation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087

G

ubiquitin specific peptidase 32

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137

G

valyl-tRNA synthetase 2, mitochondrial

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994

G

V-set and transmembrane domain containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,120,336...8,200,272
Ensembl chr16:8,120,336...8,200,269

G

WDFY family member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491

G

WD repeat domain, phosphoinositide interacting 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794

G

zinc finger DHHC-type palmitoyltransferase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,259,383...96,273,588
Ensembl chr11:82,755,143...82,767,734

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

G

zinc finger protein 57

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846

G

zinc finger, imprinted 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761

G

zinc finger with KRAB and SCAN domains 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,217,168...43,232,828
Ensembl chr17:43,217,222...43,232,827

G

zinc finger with KRAB and SCAN domains 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,104,853...43,113,101
Ensembl chr17:43,106,370...43,113,183

G

zinc finger with KRAB and SCAN domains 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,039,383...43,057,391
Ensembl chr17:43,039,383...43,057,391

G

zinc finger and SCAN domain containing 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,247,250...43,253,206
Ensembl chr17:43,247,095...43,253,264

G

zinc finger and SCAN domain containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:43,148,063...43,168,070
Ensembl chr17:43,148,079...43,168,070

cartilage-hair hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ISO

ClinVar Annotator: match by term: Cartilage-hair hypoplasia

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918

Goldberg-Shprintzen syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481

G

actin-related protein T2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629

G

agrin

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003

G

ankyrin repeat domain 65

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953

G

Rho guanine nucleotide exchange factor 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212

G

ATPase family, AAA domain containing 3A

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482

G

Beta-1,3-galactosyltransferase 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338

G

C1q and TNF related 12

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003

G

similar to human chromosome 1 open reading frame 159

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955

G

coiled-coil domain containing 27

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355

G

cyclin L2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882

G

cyclin-dependent kinase 11B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876

G

centrosomal protein 104

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248

G

cilia and flagella associated protein 74

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071

G

ceramide-1-phosphate transfer protein

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017

G

dishevelled segment polarity protein 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664

G

FA core complex associated protein 20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333

G

fibronectin type III domain containing 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326

G

gamma-aminobutyric acid type A receptor subunit delta

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411

G

G protein subunit beta 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124

G

hes family bHLH transcription factor 5

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001

G

integrator complex subunit 11

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651

G

kinesin family binding protein

ISO
ISS

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
OMIM:609460

CTD
ClinVar
MouseDO
OMIM

PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More...

NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476

G

leucine rich repeat containing 47

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174

G

multiple EGF-like-domains 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139

G

MIB E3 ubiquitin protein ligase 2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:166,243,776...166,259,650

G

microRNA 200a

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,648,494...166,648,582

G

microRNA 200b

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366

G

microRNA 429

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543

G

membrane metallo-endopeptidase-like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716

G

matrix metallopeptidase 23

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433

G

MORN repeat containing 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892

G

mitochondrial ribosomal protein L20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492

G

matrix remodeling associated 8

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636

G

NAD kinase

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322

G

NIMA-related kinase 9

ISO

ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome

NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538

G

pantothenate kinase 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135

G

peroxisomal biogenesis factor 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:165,627,799...165,632,965

G

phospholipase C, eta 2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356

G

PR/SET domain 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601

G

protein kinase C, zeta

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367

G

peroxiredoxin like 2B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,462,610...165,465,213

G

pseudouridine synthase like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611

G

retention in endoplasmic reticulum sorting receptor 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750

G

ring finger protein 223

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:166,724,984...166,725,751

G

stromal cell derived factor 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521

G

Ski proto-oncogene

ISO

ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More...

NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733

G

solute carrier family 35, member E2B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021

G

small integral membrane protein 1 (Vel blood group)

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,579,327...164,584,650

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429

G

taste 1 receptor member 3

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742

G

transmembrane protein 240

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636

G

transmembrane protein 278

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904

G

transmembrane protein 52

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433

G

TNF receptor superfamily member 14

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703

G

TNF receptor superfamily member 18

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353

G

TNF receptor superfamily member 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599

G

tumor protein p73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

tumor protein p63 regulated 1-like

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425

G

tetratricopeptide repeat domain 34

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857

G

tubulin tyrosine ligase like 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707

G

ubiquitin-conjugating enzyme E2, J2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:166,533,418...166,547,804

G

von Willebrand factor A domain containing 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637

G

WD repeat containing, antisense to TP73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643

Hirschsprung Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CREB binding protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:28492532

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

G

dihydropyrimidine dehydrogenase

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More...

NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982

G

fibrillin 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

LPS responsive beige-like anchor protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:28492532

NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724

G

notch receptor 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

neuropilin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234

G

ret proto-oncogene

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More...

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

semaphorin 3D

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930

G

SRY-box transcription factor 10

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

G

transforming growth factor, beta 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:26017485 PMID:28492532

NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405

G

TSC complex subunit 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More...

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeobox 2b

ISO

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More...

NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978

Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin converting enzyme 1

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction

CTD
OMIM
ClinVar

PMID:8530372 PMID:9915973 PMID:25741868 PMID:28492532 PMID:34298581

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

Hirschsprung's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetylcholinesterase

ISO

RGD

NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651

G

AE binding protein 2

ISS

OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712

NCBI chr 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100

G

AHNAK nucleoprotein

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926

G

axin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More...

NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231

G

BMI1 proto-oncogene, polycomb ring finger

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

caveolae associated protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,302,079...50,314,096
Ensembl chr 9:50,301,206...50,314,147

G

C-C motif chemokine receptor 9

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969

G

CD14 molecule

IEP

protein:increased expression:intestine:

RGD

NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261

G

clustered mitochondria homolog

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345

G

contactin 5

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957

G

CREB binding protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

G

CUB and Sushi multiple domains 3

ISO

ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease

NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369

G

DENN domain containing 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592

G

DEP domain containing 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951

G

developmental pluripotency associated 5

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 8:79,215,341...79,217,282
Ensembl chr 8:79,215,362...79,216,570
Ensembl chr 7:79,215,362...79,216,570
Ensembl chr 1:79,215,362...79,216,570
Ensembl chr 3:79,215,362...79,216,570

G

dihydropyrimidine dehydrogenase

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More...

NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982

G

DS cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415

G

dynein cytoplasmic 2 heavy chain 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183

G

endothelin converting enzyme 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

G

endothelin 3

susceptibility

ISO
ISS

DNA:point mutation:exon:A17T, A224T
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: EDN3-related condition | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD
RGD

PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 More...

NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093

G

endothelin receptor type B

treatment

ISO
ISS
IAGP
IMP

DNA:point mutation:exon:W276C
ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:8001158 PMID:8001159 PMID:8852658 PMID:8852659 PMID:8852660 More...

RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

endothelin receptor type B, spotting lethal

IAGP

RGD

PMID:21915282 PMID:22132166

RGD:6480217, RGD:6480215

G

erb-b2 receptor tyrosine kinase 2

ISO
ISS

OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

coagulation factor V

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

FAT atypical cadherin 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135

G

fibrillin 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

formin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3

NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411

G

glial cell derived neurotrophic factor

susceptibility

ISO
ISS

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644

CTD
ClinVar
MouseDO
OMIM

PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More...

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

GDNF family receptor alpha 1

ISO
ISS

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712

ClinVar
MouseDO
RGD

NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473

G

GLI family zinc finger 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:9302279 PMID:25741868 PMID:28492532

NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712

G

glutathione S-transferase mu 1

susceptibility

ISO

DNA:missense mutation:cds:p.K173N (human) (rs1065411)

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

ISO

DNA:missense mutation:cds:p.V155I (human) (rs2266637)

RGD

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

histone deacetylase 8

ISO

protein:decreased expression:colon (human)

RGD

NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923

G

Indian hedgehog signaling molecule

ISS
ISO

OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

MouseDO
ClinVar

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

G

inhibitor of nuclear factor kappa B kinase subunit beta

ISO

ClinVar Annotator: match by term: Aganglionic megacolon

NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250

G

IQ motif containing F5

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 8:107,151,477...107,152,862
Ensembl chr 8:107,151,462...107,152,869

G

interleukin-1 receptor-associated kinase 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121

G

integrin subunit beta 1

ISS

OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712

NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195

G

kinase insert domain receptor

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:24728327 PMID:28492532

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KIT proto-oncogene receptor tyrosine kinase

ISO

protein:decreased expression:aganglionic colon:
protein:decreased expression:intestine smooth muscle"

RGD

PMID:8831584 PMID:9247236

RGD:12910727, RGD:12910747

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

L1 cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:28492532 PMID:21395909

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

LPS responsive beige-like anchor protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724

G

leucine zipper transcription factor-like 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192

G

mannosidase, alpha, class 2A, member 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362

G

maltase-glucoamylase 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742

G

microRNA 128-1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530

G

microRNA 195

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924

G

microRNA 206

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

neuron navigator 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337

G

nicalin

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 7:8,211,978...8,221,938
Ensembl chr 7:8,211,996...8,221,934

G

nerve growth factor receptor

ISO

protein:decreased expression:lamina propria:lack of staining is a marker for HD (human)

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

notch receptor 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

notch receptor 4

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

neuregulin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884

G

neuregulin 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:25741868 PMID:28492532

NCBI chr16:14,229,270...15,352,505
Ensembl chr16:14,235,157...15,352,368

G

neuropilin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958

G

neurturin

ISO

RGD

NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102

G

neurotrophin 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596

G

neurotrophic receptor tyrosine kinase 1

ISO

protein:altered expression:intestine

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

nucleoporin 98 and 96 precursor

ISO

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415

G

2'-5'-oligoadenylate synthetase 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr12:35,779,028...35,802,781
Ensembl chr12:35,779,022...35,802,781

G

olfactory receptor family 1 subfamily F member 34

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801

G

phosphofurin acidic cluster sorting protein 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473

G

protocadherin related 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719

G

protocadherin alpha 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 10

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 11

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 12

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 13

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 4

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 5

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 6

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 7

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 8

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha 9

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha subfamily C, 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr18:28,740,353...28,750,216
Ensembl chr18:28,581,225...28,846,211

G

protocadherin alpha subfamily C, 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

Ensembl chr18:28,581,225...28,846,211

G

progesterone receptor membrane component 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 2:124,068,257...124,084,155
Ensembl chr 2:124,068,260...124,084,155

G

phosphorylated adaptor for RNA export

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823

G

paired-like homeobox 2b

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978

G

PHD and ring finger domains 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892

G

phosphatidylinositol glycan anchor biosynthesis, class O

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146

G

plasminogen activator, urokinase

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234

G

cytochrome p450 oxidoreductase

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245

G

prokineticin receptor 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379

G

patched 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:16231297 PMID:23334667 PMID:24728327 PMID:25741868 PMID:26467025 More...

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

ret proto-oncogene

susceptibility

ISO
ISS

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
DNA:SNPs:exon, intron:multiple

CTD
OMIM
ClinVar
MouseDO
RGD

PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More...

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

semaphorin 3D

ISO

ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930

G

serpin family F member 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646

G

sonic hedgehog signaling molecule

ISO

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

solute carrier family 22 member 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678

G

solute carrier family 2 member 1

ISO

RGD

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

SNF8 subunit of ESCRT-II

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734

G

SRY-box transcription factor 10

ISO

DNA:frameshift:cds:
ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:24357527 PMID:9560246

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

G

syntaxin 1A

ISO

RGD

NCBI chr12:27,278,517...27,306,547
Ensembl chr12:21,641,969...21,669,930

G

thymus, brain and testes associated

ISO

ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109

G

transforming growth factor, beta 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:25741868 PMID:26017485 PMID:28492532

NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405

G

thrombospondin 4

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 2:23,983,158...24,025,289
Ensembl chr 2:23,983,158...24,026,313

G

transmembrane protein 165

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717

G

TSC complex subunit 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More...

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

UTP25 small subunit processome component

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,630,390...104,651,681
Ensembl chr13:104,630,391...104,651,662

G

vinculin

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

G

Wnt family member 8B

ISO

RGD

NCBI chr 1:243,354,145...243,376,000
Ensembl chr 1:243,354,086...243,374,286

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr10:61,082,934...61,120,618
Ensembl chr10:60,584,652...60,671,589

G

zinc finger E-box binding homeobox 2

ISO

Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

G

zinc finger protein 592

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443

G

zinc fingers and homeoboxes 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1

NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378

Mowat-Wilson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activity-dependent neuroprotector homeobox

ISO

ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome

NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312

G

Rho GTPase activating protein 15

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265

G

glycosyltransferase-like domain containing 1

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271

G

histamine N-methyltransferase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012

G

kynureninase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488

G

LDL receptor related protein 1B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505

G

neurexophilin 2

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008

G

speckle type BTB/POZ protein like

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794

G

thrombospondin type 1 domain containing 7B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501

G

zinc finger E-box binding homeobox 2

ISO
ISS

ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More...

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

G

ZEB2 antisense RNA 1

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:29,343,078...29,345,943

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero

ISS

OMIM:609136

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More...

NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234

G

SRY-box transcription factor 10

severity

ISO
ISS

ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
OMIM:609136
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More...

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

Total Intestinal Aganglionosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

IAGP
ISO

ClinVar Annotator: match by term: Aganglionosis, total intestinal

PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More...

RGD:6480217, RGD:6480215

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

endothelin receptor type B, spotting lethal

IAGP

RGD

PMID:21915282 PMID:22132166

RGD:6480217, RGD:6480215

Waardenburg Syndrome Type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:8630502 PMID:8630503 PMID:17516928

NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093

G

endothelin receptor type B

IAGP
ISO

ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly

PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More...

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

endothelin receptor type B, spotting lethal

IAGP

RGD

G

SRY-box transcription factor 10

ISO

DNA:missense mutations,insertion,deletion:cds:

RGD

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

Waardenburg syndrome type 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

ISS
ISO

OMIM:277580
ClinVar Annotator: match by term: Waardenburg syndrome type 4A

MouseDO
OMIM
ClinVar

PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More...

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Waardenburg syndrome type 4A

NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234

G

SRY-box transcription factor 10

ISO

ClinVar Annotator: match by term: Waardenburg syndrome type 4A

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

Waardenburg syndrome type 4B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 3

susceptibility

ISO
ISS

ClinVar Annotator: match by term: Waardenburg syndrome type 4B
OMIM:613265
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
MouseDO
CTD

PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More...

NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093

Waardenburg syndrome type 4C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Waardenburg syndrome type 4C

PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More...

NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234

G

SRY-box transcription factor 10

ISO
ISS

ClinVar Annotator: match by term: Waardenburg syndrome type 4C
OMIM:613266
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More...

NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544

Term paths to the root

Path 1
Term	Annotations
disease	19145
disease of anatomical entity	18457
gastrointestinal system disease	7198
intestinal disease	3106
colonic disease	2324
megacolon	409
Hirschsprung's disease +	194
toxic megacolon	0

paths to the root