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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 (431 ) Mouse (426 ) Human (4301 ) Chinchilla (371 ) Bonobo (435 ) Dog (419 ) Squirrel (387 ) Pig (412 ) Green Monkey (406) Naked Mole-rat (361 ) All
Genes (425) 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 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868

G

ATP binding cassette subfamily F member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,807,315...2,820,240
Ensembl chr20:2,807,106...2,820,240

G

abhydrolase domain containing 16A, phospholipase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,723,756...3,738,617
Ensembl chr20:3,723,757...3,738,736

G

AHNAK nucleoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:215,311,289...215,400,010
Ensembl chr 1:215,321,931...215,400,675

G

allograft inflammatory factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339

G

AIF family member 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,009,100...97,030,601
Ensembl chr11:97,008,426...97,023,334

G

AKT serine/threonine kinase 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020

G

adaptor related protein complex 5 subunit zeta 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467

G

apolipoprotein M

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,695,618...3,698,218
Ensembl chr20:3,692,737...3,698,218

G

amyloid beta precursor protein binding protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,555,212...70,597,267
Ensembl chr10:70,555,212...70,597,193

G

Rho GTPase activating protein 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,480,222...8,637,823
Ensembl chr16:8,479,956...8,637,822

G

ARVCF, delta catenin family member

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,092,451...96,150,144
Ensembl chr11:96,092,451...96,150,163

G

N-acylsphingosine amidohydrolase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:239,278,994...239,386,598
Ensembl chr 1:239,278,994...239,382,024

G

alpha tubulin acetyltransferase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,849,399...2,862,614
Ensembl chr20:2,849,421...2,862,389

G

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

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:80,614,283...80,635,756

G

ATPase H+ transporting V1 subunit C2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 6:45,809,269...45,872,914
Ensembl chr 6:45,809,271...45,848,747

G

ATPase H+ transporting V1 subunit G2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,592,374...3,595,986
Ensembl chr20:3,592,364...3,595,475

G

BAG cochaperone 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,680,607...3,693,329
Ensembl chr20:3,680,607...3,693,329

G

BCAS3, microtubule associated cell migration factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,711,084...71,170,492
Ensembl chr10:70,711,525...71,170,803

G

BRCA1 interacting DNA helicase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206

G

similar to human chromosome 22 open reading frame 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,660,135...95,665,750
Ensembl chr11:95,663,881...95,664,588

G

similar to human chromosome 10 open reading frame 53

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,640,521...7,651,190
Ensembl chr16:7,640,521...7,651,190

G

similar to human chromosome 10 open reading frame 71

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,916,901...7,968,280
Ensembl chr16:7,915,011...7,967,682

G

similar to human chromosome 6 open reading frame 136

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,862,567...2,866,756
Ensembl chr20:2,862,478...2,866,754

G

similar to human chromosome 6 open reading frame 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,177,040...3,178,596
Ensembl chr20:3,177,040...3,178,596

G

C2 calcium-dependent domain containing 4B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 8:77,254,327...77,277,620
Ensembl chr 8:77,238,551...77,279,879

G

similar to human chromosome 4 open reading frame 46

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:167,061,141...167,064,273
Ensembl chr 2:167,060,941...167,064,271

G

similar to human chromosome 1 open reading frame 174

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:169,798,004...169,802,449
Ensembl chr 5:169,797,951...169,802,448

G

carbonic anhydrase 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,325,102...70,333,916
Ensembl chr10:70,325,358...70,333,916

G

coiled-coil alpha-helical rod protein 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,210,383...3,223,187
Ensembl chr20:3,210,384...3,222,765

G

cell division cycle 45

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981

G

cadherin 17

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:30,024,544...30,112,226
Ensembl chr 5:30,060,090...30,112,226

G

corneodesmosin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,184,142...3,188,962
Ensembl chr20:3,183,808...3,188,962

G

centrosomal protein 83

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 7:31,167,198...31,276,513
Ensembl chr 7:31,167,216...31,276,716

G

CF transmembrane conductance regulator

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643

G

choline O-acetyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416

G

CHD1 helical C-terminal domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,537,206...70,548,972
Ensembl chr10:70,537,127...70,548,963

G

claudin 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 8:109,125,819...109,145,110
Ensembl chr 8:109,126,949...109,152,701

G

claudin 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,717,172...95,718,598
Ensembl chr11:95,717,176...95,719,322

G

C-X9-C motif containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:139,382...147,037

G

collagen type III alpha 1 chain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232

G

catechol-O-methyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533

G

cysteine-rich secretory protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:27,604,024...27,628,520
Ensembl chr 9:27,604,257...27,629,870

G

CRK like proto-oncogene, adaptor protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,033,033...97,067,457
Ensembl chr11:97,024,782...97,067,457

G

casein kinase 2 beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525

G

cortexin domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:138,495,689...138,547,105
Ensembl chr 1:147,949,488...147,949,667

G

discoidin domain receptor tyrosine kinase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,050,375...3,069,276

G

DExD-box helicase 39B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,577,200...3,589,651
Ensembl chr20:3,576,734...3,589,651

G

desmin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347

G

DNA fragmentation factor subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:169,804,873...169,817,157
Ensembl chr 5:169,804,889...169,817,225

G

DiGeorge syndrome critical region gene 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,598,247...96,648,791
Ensembl chr11:96,597,197...96,648,786

G

DiGeorge syndrome critical region gene 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,432,024...96,442,766
Ensembl chr11:96,432,024...96,437,255

G

DGCR8 microprocessor complex subunit

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,208,959...96,241,560
Ensembl chr11:96,209,038...96,241,551

G

DEAH-box helicase 16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,866,804...2,879,790
Ensembl chr20:2,866,804...2,879,751

G

dynein, axonemal, heavy chain 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:1,932,776...2,099,391
Ensembl chr16:1,944,752...2,099,373

G

dorsal root ganglia homeobox

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,861,024...7,891,607
Ensembl chr16:7,861,157...7,906,904

G

endothelin receptor type B

IAGP

RGD

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765

G

ERCC excision repair 6, chromatin remodeling factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895

G

ess-2 splicing factor homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,580,185...96,596,673
Ensembl chr11:96,580,169...96,590,146

G

electron transfer flavoprotein dehydrogenase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:167,038,707...167,060,758
Ensembl chr 2:167,025,823...167,060,770

G

family with sequence similarity 170, member B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,108,210...8,111,020
Ensembl chr16:8,108,210...8,111,020

G

fragile histidine triad diadenosine triphosphatase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr15:16,365,401...17,872,901
Ensembl chr15:16,747,338...17,872,621

G

filaggrin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:181,583,801...181,596,464
Ensembl chr 2:181,583,808...181,595,968

G

flotillin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,922,662...2,932,906
Ensembl chr20:2,922,655...2,932,771

G

fibronectin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137

G

forkhead box K1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,223,599...17,288,564
Ensembl chr12:17,229,430...17,288,564

G

FERM and PDZ domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,763,889...8,883,558
Ensembl chr16:8,763,956...8,883,551

G

FUN14 domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:142,829...155,123
Ensembl chr18:142,640...155,674

G

G4 protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,698,359...3,701,036
Ensembl chr20:3,697,669...3,701,044

G

gamma-aminobutyric acid type B receptor subunit 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,469,779...1,499,352
Ensembl chr20:1,469,779...1,498,607

G

polypeptide N-acetylgalactosaminyltransferase 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:10,571,464...10,604,974
Ensembl chr 4:10,571,464...10,604,974

G

GTP binding protein overexpressed in skeletal muscle

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:30,011,641...30,022,554
Ensembl chr 5:30,011,592...30,022,542

G

G protein subunit beta 1 like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,933,994...96,011,933
Ensembl chr11:95,936,961...96,011,931

G

G protein nucleolar 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,787,939...2,796,924
Ensembl chr20:2,787,940...2,797,577

G

glycoprotein Ib platelet subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,882,561...95,883,738

G

G patch domain and ankyrin repeats 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,702,309...3,705,476
Ensembl chr20:3,702,309...3,705,306

G

glutathione peroxidase 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:48,131,853...48,138,801
Ensembl chr17:48,093,895...48,138,801

G

glutathione peroxidase 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:48,104,197...48,111,816
Ensembl chr17:48,104,197...48,111,007

G

goosecoid homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,576,424...96,578,412
Ensembl chr11:96,575,600...96,578,412

G

general transcription factor 2H subunit 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,076,110...3,081,805
Ensembl chr20:3,076,088...3,081,760

G

HEAT repeat containing 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:69,132,532...69,161,334
Ensembl chr10:69,132,181...69,162,945

G

HIC ZBTB transcriptional repressor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,241,308...97,294,429
Ensembl chr11:97,240,704...97,271,713

G

histone cell cycle regulator

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,528,831...95,637,565
Ensembl chr11:95,528,831...95,638,549

G

immediate early response 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,933,173...2,934,377
Ensembl chr20:2,933,174...2,934,377

G

INO80 complex subunit D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:71,940,941...72,007,879
Ensembl chr 9:71,951,031...72,040,232

G

integrator complex subunit 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,529,021...71,576,529
Ensembl chr10:71,401,151...71,575,206

G

kelch-like family member 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,695,168...96,736,079
Ensembl chr11:96,695,171...96,738,065

G

killer cell lectin like receptor G1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:157,127,571...157,139,372
Ensembl chr 4:157,127,571...157,139,372

G

lysine methyltransferase 2C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620

G

L3MBTL histone methyl-lysine binding protein 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:115,741,720...116,194,592
Ensembl chr 9:115,776,638...116,194,591

G

leucine rich repeat and Ig domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 5:55,166,250...56,488,672
Ensembl chr 5:55,156,997...56,489,155

G

leucine rich repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,259,083...8,283,722
Ensembl chr16:8,260,666...8,284,802

G

leukocyte specific transcript 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,639,353...3,644,399
Ensembl chr20:3,639,341...3,642,669

G

lymphotoxin alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533

G

lymphotoxin beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,632,209...3,634,054
Ensembl chr20:3,632,210...3,634,054

G

lymphocyte antigen 6 family member G5B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,710,132...3,712,193
Ensembl chr20:3,710,710...3,712,192

G

lymphocyte antigen 6 family member G5C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,714,094...3,718,861
Ensembl chr20:3,714,197...3,718,276

G

lymphocyte antigen 6 family member G6D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,746,630...3,757,036
Ensembl chr20:3,742,116...3,757,193

G

lymphocyte antigen 6 family member G6F

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,742,116...3,746,984
Ensembl chr20:3,742,116...3,757,193

G

leucine zipper like post translational regulator 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851

G

mitogen-activated protein kinase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427

G

MAS1 proto-oncogene like, G protein-coupled receptor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:50,416,178...50,427,730
Ensembl chr 1:50,408,597...50,427,710

G

mediator of DNA damage checkpoint 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,898,496...2,914,960
Ensembl chr20:2,900,308...2,914,960

G

mediator complex subunit 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,584,354...71,674,614
Ensembl chr10:71,584,354...71,673,901

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,784,974...96,859,635
Ensembl chr11:96,784,999...96,859,644

G

MHC class I polypeptide-related sequence B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:87,623,826...87,641,075
Ensembl chr 1:87,623,826...87,640,872

G

MHC I like leukocyte 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:87,500,591...87,526,983
Ensembl chr 1:87,500,676...87,526,981

G

microRNA 877

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,816,284...2,816,368
Ensembl chr20:2,816,284...2,816,368

G

monocyte to macrophage differentiation-associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,075,870...17,123,255
Ensembl chr12:17,076,260...17,123,904

G

myelin oligodendrocyte glycoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,514,110...1,528,716

G

MORC family CW-type zinc finger 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:65,641,786...65,847,257
Ensembl chr11:65,641,786...65,847,257

G

mitochondrial ribosomal protein L40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,637,751...95,643,587
Ensembl chr11:95,637,712...95,643,586

G

mitochondrial ribosomal protein S18B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,842,978...2,849,065
Ensembl chr20:2,842,528...2,849,065

G

microseminoprotein, beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,372,803...7,393,406
Ensembl chr16:7,372,819...7,393,405

G

mature T-cell proliferation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:142,416...144,482
Ensembl chr18:140,152...146,517

G

metaxin 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 3:80,137,556...80,199,547
Ensembl chr 3:80,137,581...80,271,684

G

mucin like 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,105,360...3,113,278
Ensembl chr20:3,105,360...3,113,278

G

nuclear receptor coactivator 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,395,502...7,415,846
Ensembl chr16:7,401,802...7,415,840

G

natural cytotoxicity triggering receptor 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188

G

NADH:ubiquinone oxidoreductase core subunit S1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 9:72,040,286...72,073,605
Ensembl chr 9:72,040,090...72,073,605

G

NFKB inhibitor like 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,595,319...3,610,295
Ensembl chr20:3,595,284...3,610,294

G

NFKB activating protein-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,830,828...47,832,345
Ensembl chr17:47,829,788...47,834,443

G

nucleolar protein 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 6:45,861,773...45,954,067
Ensembl chr 6:45,872,960...45,954,066

G

nurim

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,893,126...2,897,725
Ensembl chr20:2,882,369...2,896,605

G

oxoglutarate dehydrogenase L

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,584,666...7,610,705
Ensembl chr16:7,584,657...7,610,698

G

olfactory receptor family 10 subfamily C member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,375,847...1,376,785
Ensembl chr20:1,375,847...1,376,785

G

olfactory receptor family 11 subfamily A member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,359,776...1,360,717
Ensembl chr20:1,359,776...1,360,717

G

olfactory receptor family 12 subfamily D member 14C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,301,891...1,302,781
Ensembl chr20:1,301,855...1,302,781

G

olfactory receptor family 12 subfamily D member 17

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:998,023...998,988
Ensembl chr20:998,023...998,988

G

olfactory receptor family 14 subfamily J member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:694,951...695,913
Ensembl chr20:694,951...695,913

G

olfactory receptor family 2 subfamily H member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,451,227...1,452,165
Ensembl chr20:1,451,227...1,452,165

G

olfactory receptor family 2 subfamily H member 2C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,404,211...1,405,149
Ensembl chr20:1,404,211...1,405,149

G

olfactory receptor family 2 subfamily J member 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:258,323...259,261
Ensembl chr20:258,323...259,261

G

olfactory receptor family 2 subfamily W member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:48,307,699...48,308,652
Ensembl chr17:48,307,699...48,308,652

G

olfactory receptor family 5 subfamily V member 1B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,163,321...1,164,274
Ensembl chr20:1,163,321...1,164,274

G

otogelin-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:44,953,399...45,110,055

G

purinergic receptor P2X 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,944,167...96,956,424
Ensembl chr11:96,944,169...96,954,646

G

poly (ADP-ribose) glycohydrolase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,442,696...7,550,585
Ensembl chr16:7,442,726...7,550,584

G

pericentrin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178

G

piggyBac transposable element derived 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,863,948...47,898,044

G

phosphatidylinositol 4-kinase alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,113,390...97,234,374
Ensembl chr11:97,113,245...97,228,315

G

RNA polymerase I subunit H

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,600,170...1,604,088
Ensembl chr20:1,595,945...1,604,088

G

POU class 5 homeobox 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,227,837...3,232,598

G

peptidylprolyl isomerase D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:167,025,985...167,037,998
Ensembl chr 2:167,025,931...167,054,493

G

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

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,670,026...70,706,030
Ensembl chr10:70,670,020...70,706,256

G

protein phosphatase 1, regulatory subunit 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,827,802...2,842,418
Ensembl chr20:2,827,802...2,842,418

G

protein phosphatase 1, regulatory (inhibitor) subunit 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,606,583...1,610,090
Ensembl chr20:1,606,577...1,613,212

G

protein phosphatase 1, regulatory subunit 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,882,370...2,892,329
Ensembl chr20:2,882,369...2,896,605

G

proline dehydrogenase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,414,275...96,431,604
Ensembl chr11:96,414,224...96,433,418

G

proline rich 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,797,677...2,804,674
Ensembl chr20:2,797,105...2,798,617

G

proline-rich coiled-coil 2A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,660,981...3,686,715
Ensembl chr20:3,663,400...3,678,778

G

psoriasis susceptibility 1 candidate 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,206,886...3,208,307
Ensembl chr20:3,206,886...3,208,307

G

Rap associating with DIL domain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,137,872...17,202,021
Ensembl chr12:17,134,935...17,202,021

G

RAN binding protein 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,246,912...96,255,145
Ensembl chr11:96,246,740...96,255,145

G

RB-associated KRAB zinc finger

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:16,488,895...16,502,523
Ensembl chr12:16,488,950...16,502,733

G

ret proto-oncogene

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556

G

ring finger protein 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,610,027...1,615,516
Ensembl chr20:1,610,026...1,612,323

G

ribonuclease P/MRP subunit p21

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,986,225...2,025,308
Ensembl chr20:2,023,186...2,025,308

G

RT1 class Ia, locus A2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:4,872,720...4,876,425

G

RT1 class I, locus CE16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,261,656...3,265,548

G

RT1 class I, locus CE5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,407,880...3,484,130

G

RT1 class Ib, locus M3, gene 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366

G

reticulon 4 receptor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,348,613...96,373,554
Ensembl chr11:96,348,502...96,373,554

G

relaxin family peptide receptor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 2:167,070,414...167,191,616
Ensembl chr 2:167,070,417...167,191,556

G

scavenger receptor class F, member 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626

G

sidekick cell adhesion molecule 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,491,430...18,477,914
Ensembl chr12:17,493,869...18,477,935

G

septin 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,877,946...95,883,738
Ensembl chr11:95,873,864...95,883,737

G

serpin family D member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,168,753...97,179,830
Ensembl chr11:97,168,754...97,179,755

G

surfactant associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,098,313...3,099,038
Ensembl chr20:3,098,313...3,099,038

G

sphingomyelin synthase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:239,409,991...239,681,195
Ensembl chr 1:239,409,991...239,505,774

G

solute carrier family 18 member A3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,719,953...7,722,814

G

solute carrier family 25 member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,560,054...96,563,071
Ensembl chr11:96,560,041...96,565,052

G

solute carrier family 25 member 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:35,145,721...35,328,360

G

solute carrier family 29 member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:16,967,047...16,998,276
Ensembl chr12:16,967,047...16,988,338

G

solute carrier family 6 member 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:125,752,372...125,826,032

G

solute carrier family 7, member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,939,456...96,943,127
Ensembl chr11:96,939,444...96,943,802

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 6:18,975,498...19,299,704
Ensembl chr 6:18,946,798...19,287,964

G

synaptosome associated protein 29

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:97,082,721...97,113,195
Ensembl chr11:97,082,739...97,113,195

G

SWT1 RNA endoribonuclease homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:66,002,477...66,059,962
Ensembl chr13:66,002,479...66,059,962

G

transport and golgi organization 2 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,150,292...96,196,883
Ensembl chr11:96,150,266...96,196,881

G

T-box transcription factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392

G

T-box transcription factor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,177,082...71,186,275
Ensembl chr10:71,177,082...71,186,275

G

T-box transcription factor 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:71,228,145...71,258,222
Ensembl chr10:71,197,727...71,258,218

G

transcription factor 19

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,223,464...3,227,569
Ensembl chr20:3,223,324...3,230,060

G

THAP domain containing 7

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,986,720...96,990,375
Ensembl chr11:96,987,275...96,990,371

G

translocase of inner mitochondrial membrane 23

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:7,416,590...7,442,681
Ensembl chr16:7,416,597...7,442,658
Ensembl chr 3:7,416,597...7,442,658
Ensembl chr 6:7,416,597...7,442,658

G

transmembrane protein 132C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:34,752,362...35,073,821
Ensembl chr12:34,751,807...35,073,903

G

transmembrane protein 273

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,055,930...8,088,280
Ensembl chr16:8,055,930...8,088,280

G

thioredoxin-related transmembrane protein 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr18:86,021,137...86,054,025
Ensembl chr18:86,021,084...86,054,198

G

tumor necrosis factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303

G

trinucleotide repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:16,868,930...16,965,224
Ensembl chr12:16,868,978...16,965,217

G

T cell receptor associated transmembrane adaptor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:65,498,742...65,540,823
Ensembl chr11:65,498,742...65,542,381

G

tripartite motif-containing 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,694,771...1,703,724
Ensembl chr20:1,694,779...1,703,469

G

tripartite motif containing 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,703,723...1,715,465
Ensembl chr20:1,706,122...1,715,465

G

tripartite motif-containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,711,564...1,736,389
Ensembl chr20:1,715,005...1,736,623

G

tripartite motif-containing 27

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:48,233,999...48,246,348
Ensembl chr17:48,234,002...48,246,348

G

tripartite motif-containing 31

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,658,386...1,671,711
Ensembl chr20:1,658,386...1,671,711

G

tripartite motif-containing 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,008,528...2,022,383
Ensembl chr20:2,009,084...2,022,382

G

tripartite motif-containing 40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,680,554...1,691,123
Ensembl chr20:1,681,333...1,691,123

G

tRNA methyltransferase 1-like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr13:66,060,186...66,093,247
Ensembl chr13:66,060,162...66,093,643

G

tRNA methyltransferase 2 homolog A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,241,998...96,246,719
Ensembl chr11:96,242,001...96,246,609

G

testis-specific serine kinase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,590,864...96,592,219

G

tubulin, beta 5 class I

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726

G

thioredoxin reductase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,024,321...96,072,475
Ensembl chr11:96,024,324...96,072,475

G

ubiquitin D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,390,734...1,392,685
Ensembl chr20:1,390,600...1,413,965

G

ubiquitin recognition factor in ER associated degradation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:95,665,971...95,689,423
Ensembl chr11:95,665,972...95,689,434

G

ubiquitin specific peptidase 32

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr10:70,353,310...70,538,008
Ensembl chr10:70,353,310...70,538,324

G

valyl-tRNA synthetase 2, mitochondrial

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:3,081,869...3,092,907
Ensembl chr20:3,081,893...3,092,901

G

V-set and transmembrane domain containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,126,630...8,206,556
Ensembl chr16:8,122,355...8,206,549

G

WDFY family member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr16:8,228,147...8,456,777
Ensembl chr16:8,228,147...8,456,761

G

WD repeat domain, phosphoinositide interacting 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr12:17,024,876...17,053,306
Ensembl chr12:17,024,878...17,071,406

G

zinc finger DHHC-type palmitoyltransferase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr11:96,259,383...96,273,588
Ensembl chr11:96,259,449...96,284,003

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323

G

zinc finger protein 57

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr20:1,526,565...1,546,480
Ensembl chr20:1,527,961...1,535,041

G

zinc finger, imprinted 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr 1:76,165,208...76,186,843
Ensembl chr 1:76,171,894...76,186,843

G

zinc finger with KRAB and SCAN domains 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,912,816...47,928,553
Ensembl chr17:47,912,912...47,928,551

G

zinc finger with KRAB and SCAN domains 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,800,586...47,808,833
NCBI chr17:47,798,656...47,808,614
Ensembl chr17:47,800,586...47,808,833

G

zinc finger with KRAB and SCAN domains 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,735,120...47,753,126
Ensembl chr17:47,735,120...47,753,126

G

zinc finger and SCAN domain containing 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,942,976...47,948,930
Ensembl chr17:47,942,977...47,964,605

G

zinc finger and SCAN domain containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chr17:47,843,822...47,863,799
Ensembl chr17:47,807,150...47,863,790

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 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709

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 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191

G

actin-related protein T2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164

G

agrin

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539

G

ankyrin repeat domain 65

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431

G

Rho guanine nucleotide exchange factor 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624

G

ATPase family, AAA domain containing 3A

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725

G

Beta-1,3-galactosyltransferase 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789

G

C1q and TNF related 12

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800

G

similar to human chromosome 1 open reading frame 159

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373

G

coiled-coil domain containing 27

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888

G

cyclin L2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231

G

cyclin-dependent kinase 11B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145

G

centrosomal protein 104

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695

G

cilia and flagella associated protein 74

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349

G

ceramide-1-phosphate transfer protein

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266

G

dishevelled segment polarity protein 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966

G

FA core complex associated protein 20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599

G

fibronectin type III domain containing 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399

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 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094

G

G protein subunit beta 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488

G

hes family bHLH transcription factor 5

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021

G

integrator complex subunit 11

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883

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 chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201

G

leucine rich repeat containing 47

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598

G

multiple EGF-like-domains 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554

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 5:171,526,037...171,541,910

G

microRNA 200a

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,930,717...171,930,805

G

microRNA 200b

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,931,495...171,931,589

G

microRNA 429

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,929,682...171,929,766

G

membrane metallo-endopeptidase-like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058

G

matrix metallopeptidase 23

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695

G

MORN repeat containing 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218

G

mitochondrial ribosomal protein L20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728

G

matrix remodeling associated 8

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879

G

NAD kinase

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579

G

NIMA-related kinase 9

ISO

ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome

NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586

G

pantothenate kinase 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477

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 5:170,910,157...170,916,685

G

phospholipase C, eta 2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152

G

PR/SET domain 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804

G

protein kinase C, zeta

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674

G

peroxiredoxin like 2B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556

G

pseudouridine synthase like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339

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 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980

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 5:172,005,566...172,008,458

G

stromal cell derived factor 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884

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 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957

G

solute carrier family 35, member E2B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315

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 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942

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 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268

G

taste 1 receptor member 3

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993

G

transmembrane protein 240

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044

G

transmembrane protein 278

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143

G

transmembrane protein 52

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704

G

TNF receptor superfamily member 14

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046

G

TNF receptor superfamily member 18

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576

G

TNF receptor superfamily member 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616

G

tumor protein p73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552

G

tumor protein p63 regulated 1-like

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983

G

tetratricopeptide repeat domain 34

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368

G

tubulin tyrosine ligase like 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337

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 5:171,815,623...171,830,034

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 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880

G

WD repeat containing, antisense to TP73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069

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 chr10:11,822,620...11,968,266

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 2:209,293,929...210,159,778

G

fibrillin 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283

G

LPS responsive beige-like anchor protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:28492532

NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:173,921,747...174,500,527

G

notch receptor 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823

G

neuropilin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 9:71,616,602...71,731,869
Ensembl chr 9:71,616,657...71,731,871

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666

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 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556

G

semaphorin 3D

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:23,271,825...23,460,971

G

SRY-box transcription factor 10

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

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 chr13:100,692,953...100,792,856

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 chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600

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 chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494

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

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 5:155,361,031...155,462,723
Ensembl chr 5:155,360,639...155,462,719

Hirschsprung's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetylcholinesterase

ISO

RGD

NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410

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 4:175,258,286...175,297,149
Ensembl chr 4:175,258,887...175,326,422

G

AHNAK nucleoprotein

ISO

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

PMID:25741868 PMID:28492532

NCBI chr 1:215,311,289...215,400,010
Ensembl chr 1:215,321,931...215,400,675

G

axin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

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

NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575

G

BMI1 proto-oncogene, polycomb ring finger

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:86,240,683...86,250,044
Ensembl chr17:86,243,491...86,250,024

G

caveolae associated protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:57,794,007...57,806,024
Ensembl chr 9:57,794,019...57,806,024

G

C-C motif chemokine receptor 9

ISO

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

NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:132,273,544...132,287,883

G

CD14 molecule

IEP

protein:increased expression:intestine:

RGD

NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292

G

clustered mitochondria homolog

ISO

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

NCBI chr10:60,008,052...60,029,742
Ensembl chr10:60,008,119...60,029,742

G

contactin 5

ISO

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

NCBI chr 8:15,017,424...16,249,418
Ensembl chr 8:15,018,927...15,969,060

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 chr10:11,822,620...11,968,266

G

CUB and Sushi multiple domains 3

ISO

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

NCBI chr 7:80,637,341...81,956,469
Ensembl chr 7:80,638,143...81,956,162

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 7:107,304,860...107,362,573
Ensembl chr 7:107,220,192...107,362,573

G

DEP domain containing 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 2:251,343,250...251,376,709
Ensembl chr 2:251,343,281...251,376,709

G

developmental pluripotency associated 5

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 8:88,095,627...88,097,936
Ensembl chr 1:14,260,684...14,261,146

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 2:209,293,929...210,159,778

G

DS cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr11:49,391,385...49,976,861
Ensembl chr11:49,347,531...49,976,238

G

dynein cytoplasmic 2 heavy chain 1

ISO

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

PMID:25741868 PMID:28492532

NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058

G

endothelin converting enzyme 1

ISO

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

NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:155,360,639...155,462,719

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, 4
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD
RGD

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

NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329

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 chr15:87,057,691...87,086,765

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 chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481

G

coagulation factor V

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247

G

FAT atypical cadherin 3

ISO

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

NCBI chr 8:20,972,840...21,555,679
Ensembl chr 8:20,972,840...21,555,240

G

fibrillin 1

ISO

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

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283

G

formin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr13:88,986,863...89,303,789
Ensembl chr13:88,986,842...89,303,789

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 | 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 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240

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 1:267,325,297...267,557,037
Ensembl chr 1:267,326,817...267,556,501

G

GLI family zinc finger 3

ISO

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

PMID:9302279 PMID:25741868 PMID:28492532

NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198

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 2:198,338,008...198,343,569

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 chr20:12,856,083...12,873,019

G

histone deacetylase 8

ISO

protein:decreased expression:colon (human)

RGD

NCBI chr X:71,425,240...71,632,865
Ensembl chr X:71,394,928...71,632,865

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 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203

G

inhibitor of nuclear factor kappa B kinase subunit beta

ISO

ClinVar Annotator: match by term: Aganglionic megacolon

NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911

G

IQ motif containing F5

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 8:116,030,180...116,031,565
Ensembl chr 8:116,030,180...116,031,565

G

interleukin-1 receptor-associated kinase 3

ISO

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

NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:57,539,557...57,598,706

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 chr19:73,602,126...73,650,269

G

kinase insert domain receptor

ISO

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

PMID:24728327 PMID:28492532

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192

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 chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812

G

L1 cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:28492532 PMID:21395909

NCBI chr X:156,748,597...156,775,116
Ensembl chr X:156,748,597...156,775,077

G

LPS responsive beige-like anchor protein

ISO

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

PMID:25741868 PMID:28492532

NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:173,921,747...174,500,527

G

leucine zipper transcription factor-like 1

ISO

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

NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684

G

mannosidase, alpha, class 2A, member 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:143,712,157...143,736,624
Ensembl chr 1:143,716,072...143,736,562

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr11:96,784,974...96,859,635
Ensembl chr11:96,784,999...96,859,644

G

maltase-glucoamylase 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 4:70,590,706...70,682,462
Ensembl chr 4:70,590,706...70,682,462

G

microRNA 128-1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,251,884...42,251,965
Ensembl chr13:42,251,884...42,251,965

G

microRNA 195

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:55,450,495...55,450,581
Ensembl chr10:55,450,495...55,450,581

G

microRNA 206

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:30,590,697...30,590,780
Ensembl chr 9:30,590,697...30,590,780

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:97,551,061...97,569,216

G

neuron navigator 2

ISO

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

NCBI chr 1:107,799,968...108,458,546
Ensembl chr 1:107,805,096...108,458,546

G

nicalin

ISO

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

NCBI chr 7:8,862,324...8,872,699
Ensembl chr 7:8,862,751...8,872,698

G

nerve growth factor receptor

ISO

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

RGD

NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305

G

notch receptor 2

ISO

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

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823

G

notch receptor 4

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072

G

neuregulin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849

G

neuregulin 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:25741868 PMID:28492532

NCBI chr16:14,256,540...15,374,107
Ensembl chr16:14,257,148...15,374,147

G

neuropilin 2

ISO

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

NCBI chr 9:71,616,602...71,731,869
Ensembl chr 9:71,616,657...71,731,871

G

neurturin

ISO

RGD

NCBI chr 9:1,669,099...1,674,957
Ensembl chr 9:1,641,618...1,675,133

G

neurotrophin 3

ISO

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

NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349

G

neurotrophic receptor tyrosine kinase 1

ISO

protein:altered expression:intestine

RGD

NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787

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 1:165,906,405...166,003,366
Ensembl chr 1:165,906,405...166,003,366

G

2'-5'-oligoadenylate synthetase 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr12:41,439,645...41,463,392
Ensembl chr12:41,439,643...41,464,420

G

olfactory receptor family 1 subfamily F member 34

ISO

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

NCBI chr10:12,830,814...12,839,442

G

phosphofurin acidic cluster sorting protein 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828

G

protocadherin related 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958

G

protocadherin alpha 1

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 10

ISO

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

G

protocadherin alpha 11

ISO

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

G

protocadherin alpha 12

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 13

ISO

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

G

protocadherin alpha 2

ISO

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

G

protocadherin alpha 3

ISO

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

G

protocadherin alpha 4

ISO

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

NCBI chr18:28,688,274...29,120,227
Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 5

ISO

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

G

protocadherin alpha 6

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 7

ISO

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

G

protocadherin alpha 8

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 9

ISO

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

G

protocadherin alpha subfamily C, 1

ISO

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

G

protocadherin alpha subfamily C, 2

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

progesterone receptor membrane component 2

ISO

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

NCBI chr 2:125,996,190...126,012,090
Ensembl chr 2:125,996,193...126,012,090

G

phosphorylated adaptor for RNA export

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr18:52,251,231...52,267,916
Ensembl chr18:52,248,709...52,267,915

G

paired-like homeobox 2b

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494

G

PHD and ring finger domains 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:205,763,264...205,796,478
Ensembl chr 1:205,763,549...205,801,557

G

phosphatidylinositol glycan anchor biosynthesis, class O

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075

G

plasminogen activator, urokinase

ISO

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

PMID:25741868 PMID:28492532

NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030

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 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666

G

cytochrome p450 oxidoreductase

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809

G

prokineticin receptor 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 4:121,579,630...121,590,695
Ensembl chr 4:121,579,630...121,590,695

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 chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461

G

ret proto-oncogene

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, 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 | 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, 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, 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 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556

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 4:23,271,815...23,460,971
Ensembl chr 4:23,271,825...23,460,971

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 chr10:60,748,506...60,760,898

G

sonic hedgehog signaling molecule

ISO

RGD

NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901

G

solute carrier family 22 member 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:50,624,339...50,651,437
Ensembl chr 1:50,624,377...50,651,436

G

solute carrier family 2 member 1

ISO

RGD

NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742

G

SNF8 subunit of ESCRT-II

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr10:81,481,054...81,493,430
Ensembl chr10:81,481,057...81,494,610

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 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

G

syntaxin 1A

ISO

RGD

NCBI chr12:27,278,517...27,306,547
Ensembl chr12:27,278,517...27,306,471

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 chr20:29,660,904...29,677,971
Ensembl chr20:29,660,970...29,677,972

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 chr13:100,692,953...100,792,856

G

thrombospondin 4

ISO

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

NCBI chr 2:25,718,219...25,760,345
Ensembl chr 2:25,718,219...25,761,369

G

transmembrane protein 165

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr14:32,347,688...32,372,916
Ensembl chr14:32,347,691...32,372,916

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 chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600

G

UTP25 small subunit processome component

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:107,159,092...107,180,361
Ensembl chr13:107,149,183...107,180,361

G

vinculin

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:3,315,069...3,404,891
Ensembl chr15:3,315,069...3,405,163

G

Wnt family member 8B

ISO

RGD

NCBI chr 1:253,303,369...253,325,224
Ensembl chr 1:253,295,557...253,325,224

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 chr10:61,106,716...61,114,291

G

zinc finger E-box binding homeobox 2

ISO

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

NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323

G

zinc finger protein 592

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684

G

zinc fingers and homeoboxes 2

ISO

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

NCBI chr 7:91,115,894...91,263,823
Ensembl chr 7:91,087,186...91,265,181

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 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188

G

Rho GTPase activating protein 15

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:48,382,945...49,002,213
Ensembl chr 3:48,382,904...49,011,378

G

glycosyltransferase-like domain containing 1

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:49,176,110...49,571,594
Ensembl chr 3:49,176,110...49,571,843

G

histamine N-methyltransferase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:26,978,274...27,010,291
Ensembl chr 3:26,977,933...27,010,482

G

kynureninase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014

G

LDL receptor related protein 1B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:45,004,689...45,957,692

G

neurexophilin 2

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:26,373,858...26,392,392
Ensembl chr 3:26,153,756...26,391,876

G

speckle type BTB/POZ protein like

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:26,478,535...26,552,344
Ensembl chr 3:26,482,163...26,512,634

G

thrombospondin type 1 domain containing 7B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr13:43,320,895...44,219,546
Ensembl chr13:43,320,891...44,218,785

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 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323

G

ZEB2 antisense RNA 1

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chr 3:49,752,502...49,755,379

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero

ISS

OMIM:609136

NCBI chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155

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 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666

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 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

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 chr15:87,057,691...87,086,765

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 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329

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 chr15:87,057,691...87,086,765

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 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

Waardenburg syndrome type 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitate decarboxylase 1

ISO

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

NCBI chr15:86,286,531...86,295,803
Ensembl chr15:86,286,579...86,295,687

G

bora, aurora kinase A activator

ISO

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

NCBI chr15:82,205,467...82,243,499
Ensembl chr15:82,205,697...82,244,052

G

CLN5, intracellular trafficking protein

ISO

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

NCBI chr15:86,308,286...86,321,679
Ensembl chr 2:67,620,667...67,622,952
Ensembl chr15:67,620,667...67,622,952

G

COMM domain containing 6

ISO

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

NCBI chr15:84,882,069...84,889,124
Ensembl chr15:84,882,548...84,889,194

G

dachshund family transcription factor 1

ISO

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

NCBI chr15:80,936,063...81,317,746
Ensembl chr15:80,936,063...81,317,627

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ISO

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

NCBI chr15:82,231,922...82,258,299
Ensembl chr15:82,231,283...82,258,333

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 chr15:87,057,691...87,086,765

G

F-box and leucine-rich repeat protein 3

ISO

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

NCBI chr15:86,321,504...86,341,387
Ensembl chr15:86,321,504...86,341,387

G

potassium channel tetramerization domain containing 12

ISO

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

NCBI chr15:86,214,786...86,220,725
Ensembl chr15:86,214,840...86,224,539

G

KLF transcription factor 12

ISO

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

NCBI chr15:83,037,548...83,469,998
Ensembl chr15:83,045,463...83,670,640

G

KLF transcription factor 5

ISO

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

NCBI chr15:82,472,081...82,487,267
Ensembl chr15:82,472,065...82,487,262

G

LIM domain 7

ISO

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

NCBI chr15:84,981,689...85,184,554
Ensembl chr15:84,981,735...85,184,551

G

MYC binding protein 2

ISO

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

NCBI chr15:86,352,061...86,590,126
Ensembl chr15:86,352,061...86,590,325

G

mitotic spindle organizing protein 1

ISO

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

NCBI chr15:82,195,128...82,205,436
Ensembl chr15:82,195,128...82,205,436

G

Nedd4 family interacting protein 2

ISO

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

NCBI chr15:88,394,548...88,500,881
Ensembl chr15:88,395,032...88,503,600

G

ORC ubiquitin ligase 1

ISO

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

NCBI chr15:87,684,022...87,723,342
Ensembl chr15:87,684,025...87,723,342

G

progesterone immunomodulatory binding factor 1

ISO

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

NCBI chr15:82,258,243...82,427,546
Ensembl chr15:82,258,468...82,427,548

G

RNA polymerase II, I and III subunit F

ISO

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

NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666

G

POU class 4 homeobox 1

ISO

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

NCBI chr15:87,668,328...87,674,643
Ensembl chr15:87,668,328...87,674,643

G

RNA binding motif protein 26

ISO

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

NCBI chr15:88,299,378...88,379,365
Ensembl chr15:88,301,436...88,378,686

G

sciellin

ISO

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

NCBI chr15:86,754,595...86,871,200
Ensembl chr15:86,754,373...86,871,195

G

SLAIN motif family, member 1

ISO

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

NCBI chr15:86,897,476...86,957,113
Ensembl chr15:86,897,476...86,957,113

G

SRY-box transcription factor 10

ISO

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

NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

G

TBC1 domain family, member 4

ISO

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

NCBI chr15:84,670,756...84,848,876
Ensembl chr15:84,670,756...84,848,693

G

ubiquitin C-terminal hydrolase L3

ISO

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

NCBI chr15:84,888,847...84,942,095
Ensembl chr15:84,899,806...84,942,095
Ensembl chr 3:84,899,806...84,942,095

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 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329

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 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666

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 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990

Term paths to the root

Path 1
Term	Annotations
disease	19150
disease of anatomical entity	18458
gastrointestinal system disease	7218
intestinal disease	3129
colonic disease	2347
megacolon	431
Hirschsprung's disease +	216
toxic megacolon	0

paths to the root