megacolon - Ontology Report - Rat Genome Database

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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.

GViewer not supported for the selected species.

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 (365)

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily F member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:248,133...265,016

G

abhydrolase domain containing 16A, phospholipase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967

G

AHNAK nucleoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936581:702,579...792,762

G

allograft inflammatory factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,907,493...1,909,350
Ensembl chrNW_004936727:1,907,505...1,909,338

G

AIF family member 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,485,840...2,505,075
Ensembl chrNW_004936619:2,493,256...2,504,322

G

AKT serine/threonine kinase 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583

G

adaptor related protein complex 5 subunit zeta 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316

G

apolipoprotein M

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,868,751...1,874,347
Ensembl chrNW_004936727:1,865,921...1,872,214

G

amyloid beta precursor protein binding protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:2,021,887...2,078,739
Ensembl chrNW_004936490:2,021,859...2,079,211

G

Rho GTPase activating protein 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,633,385...1,765,345
Ensembl chrNW_004936728:1,573,288...1,765,505

G

ARVCF delta catenin family member

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,884,450...3,934,559
Ensembl chrNW_004936619:3,884,783...3,928,769

G

N-acylsphingosine amidohydrolase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936735:2,004,373...2,092,501
Ensembl chrNW_004936735:2,031,844...2,092,347

G

alpha tubulin acetyltransferase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:300,765...319,742
Ensembl chrNW_004936837:300,715...319,623

G

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

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010

G

ATPase H+ transporting V1 subunit C2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936532:6,818,387...6,866,691
Ensembl chrNW_004936532:6,818,758...6,865,959

G

ATPase H+ transporting V1 subunit G2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,963,605...1,965,727
Ensembl chrNW_004936727:1,963,421...1,966,218

G

BAG cochaperone 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,866,235...1,885,266
Ensembl chrNW_004936727:1,873,413...1,885,366

G

BCAS3 microtubule associated cell migration factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:2,189,693...2,761,989
Ensembl chrNW_004936490:2,189,583...2,761,331

G

BRCA1 interacting DNA helicase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479

G

C2 calcium dependent domain containing 4B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936471:22,939,454...22,941,728

G

carbonic anhydrase 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645

G

coiled-coil domain containing 102B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936781:754,392...835,648

G

coiled-coil alpha-helical rod protein 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:809,958...821,604
Ensembl chrNW_004936837:809,921...821,608

G

cell division cycle 45

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,420,110...3,452,419
Ensembl chrNW_004936619:3,420,191...3,452,436

G

cadherin 17

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936544:7,156,213...7,208,392
Ensembl chrNW_004936544:7,156,213...7,205,127

G

corneodesmosin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:787,035...791,388
Ensembl chrNW_004936837:787,301...791,388

G

centrosomal protein 83

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936507:10,671,371...10,792,863
Ensembl chrNW_004936507:10,671,047...10,792,854

G

CF transmembrane conductance regulator

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936589:1,565,933...1,719,208

G

choline O-acetyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:653,654...702,433
Ensembl chrNW_004936728:654,638...700,213

G

CHD1 helical C-terminal domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:1,990,868...2,001,188
Ensembl chrNW_004936490:1,990,868...2,001,188

G

claudin 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936540:373,889...401,535
Ensembl chrNW_004936540:373,889...401,535

G

claudin 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,455,508...3,457,053
Ensembl chrNW_004936619:3,456,166...3,456,822

G

clathrin heavy chain like 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,181,890...3,276,305
Ensembl chrNW_004936619:3,181,516...3,276,328

G

C-X9-C motif containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021

G

collagen type III alpha 1 chain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930

G

catechol-O-methyltransferase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747

G

CRK like proto-oncogene, adaptor protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,447,686...2,479,589
Ensembl chrNW_004936619:2,447,614...2,479,805

G

casein kinase 2 beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002

G

cortexin domain containing 1

ISO

ClinVar Annotator: match by term: Megacolon

Ensembl chrNW_004936483:20,366,862...20,367,041

G

chromosome unknown C10orf53 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:628,600...632,261

G

chromosome unknown C10orf71 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:958,481...982,624
Ensembl chrNW_004936728:959,147...963,448

G

chromosome unknown C1orf174 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936737:72,930...78,824

G

chromosome unknown C22orf39 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,388,427...3,393,299
Ensembl chrNW_004936619:3,388,427...3,393,253

G

chromosome unknown C4orf46 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936576:5,137,369...5,140,594
Ensembl chrNW_004936576:5,137,174...5,140,594

G

chromosome unknown C6orf136 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:320,138...324,236
Ensembl chrNW_004936837:320,270...324,236

G

chromosome unknown C6orf15 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:781,958...783,112

G

chromosome unknown C6orf47 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,866,681...1,868,645
Ensembl chrNW_004936727:1,867,052...1,867,933

G

discoidin domain receptor tyrosine kinase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:523,227...538,799
Ensembl chrNW_004936837:523,266...538,833

G

DExD-box helicase 39B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,968,032...1,980,789
Ensembl chrNW_004936727:1,968,094...1,980,785

G

desmin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562

G

DNA fragmentation factor subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936737:79,789...96,140
Ensembl chrNW_004936737:81,078...96,151

G

DiGeorge syndrome critical region gene 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,033,312...3,120,473
Ensembl chrNW_004936619:3,033,275...3,121,093

G

DiGeorge syndrome critical region gene 6 like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:4,203,792...4,209,417

G

DGCR8 microprocessor complex subunit

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,977,307...4,014,490
Ensembl chrNW_004936619:3,977,144...4,014,273
Ensembl chrNW_004936619:3,977,144...4,014,273

G

DEAH-box helicase 16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:324,244...341,667
Ensembl chrNW_004936837:324,243...341,713

G

dynein axonemal heavy chain 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936473:7,634,024...7,893,943

G

dorsal root ganglia homeobox

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:892,814...923,089
Ensembl chrNW_004936728:892,814...923,089

G

endothelin receptor type B

ISO

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

ERCC excision repair 6, chromatin remodeling factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690

G

ess-2 splicing factor homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,132,234...3,154,091
Ensembl chrNW_004936619:3,130,927...3,154,098

G

electron transfer flavoprotein dehydrogenase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936576:5,140,577...5,165,527
Ensembl chrNW_004936576:5,140,577...5,165,527

G

family with sequence similarity 170 member B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,133,569...1,135,742
Ensembl chrNW_004936728:1,133,569...1,135,787

G

fragile histidine triad diadenosine triphosphatase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936473:397,140...1,424,805
Ensembl chrNW_004936473:676,237...1,424,506

G

flotillin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:387,012...401,076
Ensembl chrNW_004936837:380,288...401,071

G

fibronectin 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383

G

forkhead box K1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:1,126,168...1,255,354
Ensembl chrNW_004936765:1,133,287...1,148,907

G

FERM and PDZ domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,919,161...2,053,794
Ensembl chrNW_004936728:1,919,128...2,050,930

G

FUN14 domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271

G

gamma-aminobutyric acid type B receptor subunit 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,108,105...1,137,602
Ensembl chrNW_004936723:1,107,995...1,137,178

G

polypeptide N-acetylgalactosaminyltransferase 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936527:7,264,831...7,306,104
Ensembl chrNW_004936527:7,280,265...7,306,304

G

GTP binding protein overexpressed in skeletal muscle

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936544:7,262,629...7,275,860
Ensembl chrNW_004936544:7,262,629...7,275,910

G

G protein subunit beta 1 like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,691,327...3,760,906
Ensembl chrNW_004936619:3,691,074...3,761,425

G

G protein nucleolar 1 (putative)

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:228,680...239,253
Ensembl chrNW_004936837:224,487...239,127

G

glycoprotein Ib platelet subunit beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859

G

G-patch domain and ankyrin repeats 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,862,960...1,865,299
Ensembl chrNW_004936727:1,863,401...1,865,118

G

glutathione peroxidase 5

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:487,163...496,465

G

glutathione peroxidase 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:535,324...543,114
Ensembl chrNW_004936914:535,324...543,114

G

goosecoid homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,154,834...3,158,654
Ensembl chrNW_004936619:3,157,228...3,174,086

G

general transcription factor IIH subunit 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:546,561...552,686
Ensembl chrNW_004936837:546,509...552,754

G

guanylate cyclase activator 1C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936645:2,527,070...2,556,201
Ensembl chrNW_004936645:2,524,167...2,556,139

G

HEAT repeat containing 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:541,420...577,081
Ensembl chrNW_004936490:541,453...573,058

G

HIC ZBTB transcriptional repressor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,205,106...2,214,199
Ensembl chrNW_004936619:2,205,464...2,214,146

G

immediate early response 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:401,475...402,769
Ensembl chrNW_004936837:401,524...402,741

G

INO80 complex subunit D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936631:2,405,056...2,474,798
Ensembl chrNW_004936631:2,410,300...2,474,811

G

integrator complex subunit 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:3,141,258...3,196,257
Ensembl chrNW_004936490:3,141,116...3,196,291

G

kelch like family member 22

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,854,915...2,899,386
Ensembl chrNW_004936619:2,854,803...2,899,460

G

killer cell lectin like receptor G1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936870:339,526...352,807
Ensembl chrNW_004936870:339,521...353,207

G

lysine methyltransferase 2C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365

G

L3MBTL histone methyl-lysine binding protein 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936779:192,852...570,881
Ensembl chrNW_004936779:234,634...454,418

G

leucine rich repeat and Ig domain containing 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936611:1,267,679...1,434,908
Ensembl chrNW_004936611:1,747,626...1,749,446

G

protein HIRA

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,282,170...3,380,151
Ensembl chrNW_004936619:3,282,173...3,380,151

G

olfactory receptor 11A1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,321,890...1,322,837

G

alpha-2-macroglobulin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167

G

olfactory receptor 12D2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,340,597...1,341,523

G

lymphocyte antigen 6 family member G6F

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,822,803...1,825,563
Ensembl chrNW_004936727:1,816,220...1,817,933
Ensembl chrNW_004936727:1,816,220...1,817,933

G

cysteine-rich secretory protein 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936476:10,964,824...10,974,129
Ensembl chrNW_004936476:10,964,027...10,974,129

G

olfactory receptor 2H2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,145,566...1,146,820
Ensembl chrNW_004936723:1,145,610...1,146,536

G

T-cell receptor-associated transmembrane adapter 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936645:2,459,524...2,491,016
Ensembl chrNW_004936645:2,464,548...2,491,016

G

leucine rich repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,306,756...1,327,490
Ensembl chrNW_004936728:1,326,723...1,327,490

G

leukocyte specific transcript 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,924,599...1,928,169
Ensembl chrNW_004936727:1,924,681...1,925,977

G

lymphotoxin alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022

G

lymphotoxin beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,929,533...1,932,339
Ensembl chrNW_004936727:1,910,881...1,932,356

G

lymphocyte antigen 6 family member G5B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,854,742...1,857,014
Ensembl chrNW_004936727:1,854,991...1,856,948

G

lymphocyte antigen 6 family member G5C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,848,502...1,852,659
Ensembl chrNW_004936727:1,848,505...1,852,398

G

leucine zipper like post translational regulator 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500

G

mitogen-activated protein kinase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907

G

mitochondrial coiled-coil domain 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,981,017...1,991,955

G

mediator of DNA damage checkpoint 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:363,870...379,406
Ensembl chrNW_004936837:362,928...378,759

G

mediator complex subunit 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:3,204,717...3,293,458
Ensembl chrNW_004936490:3,202,827...3,293,458

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,687,004...2,780,898
Ensembl chrNW_004936619:2,687,011...2,759,294

G

monocyte to macrophage differentiation associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:1,013,959...1,034,736
Ensembl chrNW_004936765:1,016,065...1,032,407

G

myelin oligodendrocyte glycoprotein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,070,071...1,112,487
Ensembl chrNW_004936723:1,070,117...1,081,323

G

MORC family CW-type zinc finger 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936645:2,570,071...2,725,796
Ensembl chrNW_004936645:2,560,397...2,707,661

G

mitochondrial ribosomal protein L40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,380,957...3,384,567
Ensembl chrNW_004936619:3,380,335...3,384,600

G

mitochondrial ribosomal protein S18B

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:293,792...300,109
Ensembl chrNW_004936837:294,654...299,857

G

microseminoprotein beta

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:354,769...374,696

G

mature T cell proliferation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072

G

metaxin 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936509:5,743,004...5,799,326
Ensembl chrNW_004936509:5,742,987...5,799,652

G

mucin 21, cell surface associated

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:614,116...618,045

G

mucin 22

ISO

ClinVar Annotator: match by term: Megacolon

G

mucin like 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:579,553...591,182

G

nuclear receptor coactivator 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:376,915...402,539
Ensembl chrNW_004936728:376,852...402,539

G

natural cytotoxicity triggering receptor 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,921,452...1,924,395

G

NADH:ubiquinone oxidoreductase core subunit S1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936631:2,503,353...2,538,957
Ensembl chrNW_004936631:2,499,062...2,538,801

G

NFKB inhibitor like 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,950,356...1,963,847
Ensembl chrNW_004936727:1,950,057...1,963,245

G

NFKB activating protein like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:103,304...104,524

G

nucleolar protein 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936532:6,705,878...6,786,810
Ensembl chrNW_004936532:6,706,592...6,786,703

G

nurim

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:357,005...359,956
Ensembl chrNW_004936837:357,086...359,947

G

oxoglutarate dehydrogenase L

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:573,079...599,155
Ensembl chrNW_004936728:573,049...599,948

G

otogelin like

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936698:1,173,266...1,295,785
Ensembl chrNW_004936698:1,180,089...1,295,785

G

purinergic receptor P2X 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,560,685...2,567,612
Ensembl chrNW_004936619:2,560,759...2,566,355

G

poly(ADP-ribose) glycohydrolase

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:428,028...538,413
Ensembl chrNW_004936728:428,028...541,530

G

pericentrin

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357

G

piggyBac transposable element derived 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:65,650...97,510
Ensembl chrNW_004936772:63,902...97,558

G

phosphatidylinositol 4-kinase alpha

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093

G

RNA polymerase I subunit H

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:979,076...983,814
Ensembl chrNW_004936723:978,613...984,405

G

POU class 5 homeobox 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:827,568...838,933

G

peptidylprolyl isomerase D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936576:5,165,815...5,179,928
Ensembl chrNW_004936576:5,161,914...5,179,961

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:2,139,201...2,183,850
Ensembl chrNW_004936490:2,139,078...2,184,602

G

protein phosphatase 1 regulatory subunit 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:276,423...296,600
Ensembl chrNW_004936837:277,618...286,515

G

protein phosphatase 1 regulatory inhibitor subunit 11

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:973,516...975,930
Ensembl chrNW_004936723:970,226...975,952

G

protein phosphatase 1 regulatory subunit 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:345,578...356,175
Ensembl chrNW_004936837:345,570...355,058

G

proline rich 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:238,981...244,946
Ensembl chrNW_004936837:238,925...244,964

G

proline rich coiled-coil 2A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,886,457...1,901,832
Ensembl chrNW_004936727:1,886,365...1,902,135

G

psoriasis susceptibility 1 candidate 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:806,668...808,585
Ensembl chrNW_004936837:807,079...808,071

G

Rap associating with DIL domain

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:1,050,471...1,104,117
Ensembl chrNW_004936765:1,051,351...1,104,618

G

RB associated KRAB zinc finger

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:312,474...327,089
Ensembl chrNW_004936765:315,255...326,409

G

ret proto-oncogene

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602

G

Rh blood group CcEe antigens

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936474:10,036,478...10,074,332

G

ring finger protein 39

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:967,376...972,496
Ensembl chrNW_004936723:967,263...975,952

G

retrotransposon Gag like 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,755,537...3,760,909

G

reticulon 4 receptor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:4,130,757...4,155,885
Ensembl chrNW_004936619:4,130,748...4,155,894

G

relaxin family peptide receptor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936576:4,996,203...5,131,485
Ensembl chrNW_004936576:4,996,216...5,131,427

G

scavenger receptor class F member 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,900,536...2,915,306
Ensembl chrNW_004936619:2,903,824...2,914,518

G

sidekick cell adhesion molecule 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:1,429,422...1,667,441
Ensembl chrNW_004936765:1,429,398...1,778,148

G

serpin family D member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,298,745...2,310,740
Ensembl chrNW_004936619:2,298,893...2,310,716

G

surfactant associated 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:569,435...570,014
Ensembl chrNW_004936837:569,435...570,014

G

sphingomyelin synthase 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141

G

solute carrier family 18 member A3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:703,688...706,317
Ensembl chrNW_004936728:704,290...705,885

G

solute carrier family 25 member 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,177,868...3,181,095
Ensembl chrNW_004936619:3,177,871...3,181,099

G

solute carrier family 25 member 13

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936585:4,061,297...4,215,912
Ensembl chrNW_004936585:4,058,877...4,215,942

G

solute carrier family 29 member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:854,712...868,001
Ensembl chrNW_004936765:855,667...864,900

G

solute carrier family 6 member 6

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936602:233,753...274,982

G

solute carrier family 7 member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,568,322...2,572,391
Ensembl chrNW_004936619:2,567,887...2,572,394

G

solute carrier family 8 member A1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936508:10,894,918...11,256,084
Ensembl chrNW_004936508:10,968,656...11,253,070

G

synaptosome associated protein 29

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,377,284...2,402,049
Ensembl chrNW_004936619:2,376,815...2,401,967

G

SWT1 RNA endoribonuclease homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936481:4,939,232...5,024,058
Ensembl chrNW_004936481:4,939,218...5,019,062

G

transport and golgi organization 2 homolog

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240

G

T-box transcription factor 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525

G

T-box transcription factor 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:2,769,264...2,778,342
Ensembl chrNW_004936490:2,769,231...2,805,238

G

T-box transcription factor 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917

G

transcription factor 19

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:821,884...825,766
Ensembl chrNW_004936837:821,861...826,088

G

THAP domain containing 7

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,525,152...2,528,242

G

transmembrane protein 132C

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936660:343,825...434,088
Ensembl chrNW_004936660:155,204...432,640

G

transmembrane protein 273

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,096,940...1,101,104
Ensembl chrNW_004936728:1,077,862...1,108,209

G

thioredoxin related transmembrane protein 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936781:909,402...947,406
Ensembl chrNW_004936781:909,379...948,541

G

tumor necrosis factor

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

trinucleotide repeat containing 18

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:763,111...854,645
Ensembl chrNW_004936765:765,639...852,215

G

tripartite motif containing 10

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:882,960...890,740
Ensembl chrNW_004936723:883,009...890,310

G

tripartite motif containing 15

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:869,019...880,200
Ensembl chrNW_004936723:873,274...880,065

G

tripartite motif containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:827,847...859,860
Ensembl chrNW_004936723:829,568...859,817

G

tripartite motif containing 27

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:245,348...263,060
Ensembl chrNW_004936914:245,283...263,435

G

tripartite motif containing 31

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:934,808...945,279

G

tripartite motif containing 40

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:897,213...909,263
Ensembl chrNW_004936723:896,054...909,263

G

tRNA methyltransferase 1L

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936481:5,024,218...5,051,797
Ensembl chrNW_004936481:5,023,826...5,054,734

G

tRNA methyltransferase 2 homolog A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:4,015,072...4,020,163
Ensembl chrNW_004936619:4,014,508...4,020,569

G

testis specific serine kinase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,126,625...3,130,788
Ensembl chrNW_004936619:3,129,580...3,130,656

G

tubulin beta class I

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:380,880...384,752
Ensembl chrNW_004936837:380,879...384,748

G

thioredoxin reductase 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,789,940...3,847,286
Ensembl chrNW_004936619:3,791,418...3,847,626

G

ubiquitin D

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,218,621...1,221,070
Ensembl chrNW_004936723:1,218,258...1,221,451

G

ubiquitin recognition factor in ER associated degradation 1

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:3,395,130...3,419,704
Ensembl chrNW_004936619:3,395,687...3,419,472

G

ubiquitin specific peptidase 32

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936490:1,788,167...1,961,225

G

valyl-tRNA synthetase 2, mitochondrial

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936837:552,837...565,348
Ensembl chrNW_004936837:552,839...565,530

G

V-set and transmembrane domain containing 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,146,800...1,239,264
Ensembl chrNW_004936728:1,146,680...1,239,773

G

WASH complex subunit 2A

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:263,790...320,428

G

WDFY family member 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936728:1,262,433...1,503,805
Ensembl chrNW_004936728:1,262,771...1,503,804

G

WD repeat domain, phosphoinositide interacting 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936765:909,118...946,788
Ensembl chrNW_004936765:907,877...946,822

G

zinc finger BED-type containing 9

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:427,539...448,547

G

zDHHC palmitoyltransferase 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:4,032,665...4,048,079
Ensembl chrNW_004936619:4,032,659...4,048,155

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

G

ZFP57 zinc finger protein

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936723:1,063,969...1,069,986

G

zinc finger with KRAB and SCAN domains 3

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:43...7,099

G

zinc finger with KRAB and SCAN domains 4

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:107,462...116,211
Ensembl chrNW_004936772:107,416...115,613

G

zinc finger with KRAB and SCAN domains 8

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:218,713...232,980
Ensembl chrNW_004936772:224,088...229,848

G

zinc finger protein 311

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:176,209...186,910
Ensembl chrNW_004936914:176,160...188,337

G

zinc finger protein 74

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936619:2,939,104...2,947,461

G

zinc finger and SCAN domain containing 12

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004939040:6...8,502

G

zinc finger and SCAN domain containing 16

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:243,715...251,637

G

zinc finger and SCAN domain containing 23

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936914:610,314...616,157
Ensembl chrNW_004936914:610,293...619,467

G

zinc finger and SCAN domain containing 26

ISO

ClinVar Annotator: match by term: Megacolon

NCBI chrNW_004936772:85,439...97,363
Ensembl chrNW_004936772:86,251...90,873

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 chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821

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 chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989

G

actin related protein T2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432

G

agrin

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796

G

ankyrin repeat domain 65

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,751,065...1,753,843

G

Rho guanine nucleotide exchange factor 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719

G

aurora kinase A interacting protein 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611

G

beta-1,3-galactosyltransferase 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826

G

C1q and TNF related 12

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360

G

calmodulin like 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445

G

coiled-coil domain containing 27

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:144,398...157,262

G

cyclin L2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475

G

centrosomal protein 104

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671

G

cilia and flagella associated protein 74

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,416,475...1,465,984

G

ceramide-1-phosphate transfer protein

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320

G

chromosome unknown C1orf159 homolog

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chrNW_004936737:1,975,031...1,991,058

G

dishevelled segment polarity protein 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286

G

FA core complex associated protein 20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,296,152...1,300,038

G

fibronectin type III domain containing 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,658,932...1,668,081

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 chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119

G

G protein subunit beta 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102

G

hes family bHLH transcription factor 5

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950

G

integrator complex subunit 11

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104

G

kinesin family binding protein

ISO

ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome

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

NCBI chrNW_004936521:9,395,490...9,421,093
Ensembl chrNW_004936521:9,395,465...9,421,629

G

leucine rich repeat containing 47

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468

G

multiple EGF like domains 6

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:269,629...364,809

G

MIB E3 ubiquitin protein ligase 2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,633,495...1,646,598

G

membrane metalloendopeptidase like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067

G

matrix metallopeptidase 23B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023

G

MORN repeat containing 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,166,183...1,214,517

G

mitochondrial ribosomal protein L20

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,760,236...1,761,776

G

matrix remodeling associated 8

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796

G

NAD kinase

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,568,304...1,579,929

G

NIMA related kinase 9

ISO

ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome

NCBI chrNW_004936488:4,221,099...4,261,401
Ensembl chrNW_004936488:4,220,429...4,261,432

G

pantothenate kinase 4 (inactive)

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364

G

peroxisomal biogenesis factor 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718

G

phospholipase C eta 2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216

G

PR/SET domain 16

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985

G

protein kinase C zeta

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944

G

peroxiredoxin like 2B

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764

G

pseudouridine synthase like 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696

G

retention in endoplasmic reticulum sorting receptor 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616

G

ring finger protein 223

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chrNW_004936737:1,992,117...1,997,810

G

sodium channel epithelial 1 subunit delta

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,851,185...1,854,923

G

stromal cell derived factor 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904

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 chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631

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 chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609

G

taste 1 receptor member 3

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982

G

transmembrane protein 240

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,710,311...1,711,882

G

transmembrane protein 278

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,746,208...1,746,947

G

transmembrane protein 52

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,466,168...1,468,003

G

TNF receptor superfamily member 14

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,008,228...1,013,575

G

TNF receptor superfamily member 18

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chrNW_004936737:1,905,307...1,910,356

G

TNF receptor superfamily member 4

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,901,749...1,904,382

G

tumor protein p73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464

G

tumor protein p63 regulated 1 like

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:253,752...258,767

G

tetratricopeptide repeat domain 34

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

G

tubulin tyrosine ligase like 10

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

NCBI chrNW_004936737:1,910,286...1,926,061

G

ubiquitin conjugating enzyme E2 J2

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248

G

von Willebrand factor A domain containing 1

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792

G

WD repeat containing, antisense to TP73

ISO

ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome

PMID:23892090 PMID:28492532 PMID:31602316

NCBI chrNW_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356

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 chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

dihydropyrimidine dehydrogenase

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

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

NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273

G

fibrillin 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231

G

notch receptor 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321

G

LPS responsive beige-like anchor protein

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:28492532

NCBI chrNW_004936689:429,907...1,080,226
Ensembl chrNW_004936689:430,293...1,079,838

G

neuropilin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chrNW_004936631:2,106,378...2,222,082
Ensembl chrNW_004936631:2,106,453...2,222,088

G

RNA polymerase II, I and III subunit F

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796

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 chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602

G

semaphorin 3D

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chrNW_004936789:872,760...1,053,606
Ensembl chrNW_004936789:933,877...1,053,566

G

SRY-box transcription factor 10

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

G

transforming growth factor beta 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease 1

PMID:25741868 PMID:26017485 PMID:28492532

NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007

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 chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363

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 chrNW_004936482:8,972,433...8,975,284
Ensembl chrNW_004936482:8,972,433...8,975,284

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

ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction

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

NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005

Hirschsprung's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetylcholinesterase (Cartwright blood group)

ISO

NCBI chrNW_004936543:856,678...862,080
Ensembl chrNW_004936543:856,676...862,109

G

AE binding protein 2

ISO

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

NCBI chrNW_004936548:6,828,190...6,890,287
Ensembl chrNW_004936548:6,810,002...6,889,614

G

AHNAK nucleoprotein

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936581:702,579...792,762

G

axin 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

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

NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470

G

BMI1 proto-oncogene, polycomb ring finger

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936520:5,707,542...5,716,966
Ensembl chrNW_004936520:5,707,778...5,717,024

G

caveolae associated protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936506:6,453,914...6,466,574
Ensembl chrNW_004936506:6,453,652...6,466,770

G

C-C motif chemokine receptor 9

ISO

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

NCBI chrNW_004936695:55,788...59,251
Ensembl chrNW_004936695:55,788...59,251

G

CD14 molecule

ISO

protein:increased expression:intestine:

NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923

G

clustered mitochondria homolog

ISO

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

NCBI chrNW_004936538:8,698,374...8,719,281
Ensembl chrNW_004936538:8,697,435...8,719,343

G

contactin 5

ISO

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

NCBI chrNW_004936551:7,097,064...7,571,894
Ensembl chrNW_004936551:7,098,632...7,804,064

G

CREB binding protein

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

CUB and Sushi multiple domains 3

ISO

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

NCBI chrNW_004936470:32,244,712...33,323,374
Ensembl chrNW_004936470:32,245,093...33,324,814

G

DENN domain containing 3

ISO

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

NCBI chrNW_004936470:10,217,404...10,264,911
Ensembl chrNW_004936470:10,217,394...10,264,956

G

DEP domain containing 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936591:3,303,915...3,323,462
Ensembl chrNW_004936591:3,304,067...3,323,462

G

developmental pluripotency associated 5

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004937318:21,726...22,590
Ensembl chrNW_004937318:21,726...22,590

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 chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273

G

DS cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936500:2,686,847...3,339,110
Ensembl chrNW_004936500:2,686,850...3,338,498

G

dynein cytoplasmic 2 heavy chain 1

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825

G

endothelin converting enzyme 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005

G

endothelin 3

susceptibility

ISO

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

PMID:8696331 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 More...

NCBI chrNW_004936530:1,744,216...1,766,602
Ensembl chrNW_004936530:1,744,199...1,765,027

G

endothelin receptor type B

treatment

ISO

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

RGD
ClinVar
OMIM

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

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

erb-b2 receptor tyrosine kinase 2

ISO

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

NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956

G

coagulation factor V

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844

G

FAT atypical cadherin 3

ISO

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

NCBI chrNW_004936674:1,770,884...2,104,909
Ensembl chrNW_004936674:1,775,744...2,374,883

G

fibrillin 1

ISO

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

PMID:25741868 PMID:26559152 PMID:28492532

NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231

G

formin 2

ISO

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

NCBI chrNW_004936526:9,832,790...10,169,488
Ensembl chrNW_004936526:9,833,128...10,169,267

G

glial cell derived neurotrophic factor

susceptibility

ISO

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

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

NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753

G

GDNF family receptor alpha 1

ISO

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

NCBI chrNW_004936486:6,066,108...6,262,055
Ensembl chrNW_004936486:6,071,023...6,262,165

G

GLI family zinc finger 3

ISO

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

PMID:9302279 PMID:25741868 PMID:28492532

NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011

G

histone deacetylase 8

ISO

protein:decreased expression:colon (human)

NCBI chrNW_004936762:1,425,337...1,652,058
Ensembl chrNW_004936762:1,425,335...1,652,063

G

Indian hedgehog signaling molecule

ISO

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

NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568

G

inhibitor of nuclear factor kappa B kinase subunit beta

ISO

ClinVar Annotator: match by term: Aganglionic megacolon

NCBI chrNW_004936785:358,128...406,751
Ensembl chrNW_004936785:356,168...406,773

G

interleukin 1 receptor associated kinase 3

ISO

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

NCBI chrNW_004936545:4,233,353...4,284,324
Ensembl chrNW_004936545:4,233,358...4,282,806

G

integrin subunit beta 1

ISO

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

NCBI chrNW_004936574:1,465,981...1,495,717
Ensembl chrNW_004936574:1,465,897...1,495,762

G

kinase insert domain receptor

ISO

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

PMID:24728327 PMID:28492532

NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002

G

KIT proto-oncogene, receptor tyrosine kinase

ISO

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

PMID:8831584 PMID:9247236

RGD:12910727 RGD:12910747

NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274

G

L1 cell adhesion molecule

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973

G

pro-neuregulin-3, membrane-bound isoform

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:25741868 PMID:28492532

NCBI chrNW_004936716:1,362,574...2,391,432

G

NADPH--cytochrome P450 reductase

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008

G

notch receptor 2

ISO

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

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321

G

LPS responsive beige-like anchor protein

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936689:429,907...1,080,226
Ensembl chrNW_004936689:430,293...1,079,838

G

leucine zipper transcription factor like 1

ISO

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

NCBI chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606

G

mannosidase alpha class 2A member 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936483:16,096,522...16,116,402
Ensembl chrNW_004936483:16,094,466...16,116,569

G

mediator complex subunit 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936619:2,687,004...2,780,898
Ensembl chrNW_004936619:2,687,011...2,759,294

G

maltase-glucoamylase 2 (putative)

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936971:78,610...167,061
Ensembl chrNW_004936971:78,610...149,508

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648

G

neuron navigator 2

ISO

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

NCBI chrNW_004936654:740,270...1,119,065
Ensembl chrNW_004936654:740,194...1,119,067

G

nicalin

ISO

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

NCBI chrNW_004936588:1,826,065...1,840,391
Ensembl chrNW_004936588:1,826,045...1,840,411

G

nerve growth factor receptor

ISO

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

NCBI chrNW_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263

G

notch receptor 4

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936727:1,386,842...1,409,823

G

neuregulin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972

G

neuropilin 2

ISO

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

NCBI chrNW_004936631:2,106,378...2,222,082
Ensembl chrNW_004936631:2,106,453...2,222,088

G

neurturin

ISO

NCBI chrNW_004936588:3,352,440...3,356,457
Ensembl chrNW_004936588:3,352,789...3,356,461

G

neurotrophin 3

ISO

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

NCBI chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552

G

neurotrophic receptor tyrosine kinase 1

ISO

protein:altered expression:intestine

NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709

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 chrNW_004936498:1,112,724...1,219,790
Ensembl chrNW_004936498:1,112,663...1,220,634

G

2'-5'-oligoadenylate synthetase 3

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936668:2,917,978...2,965,336
Ensembl chrNW_004936668:2,950,124...2,962,572
Ensembl chrNW_004936668:2,950,124...2,962,572

G

phosphofurin acidic cluster sorting protein 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671

G

protocadherin related 15

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089

G

phosphorylated adaptor for RNA export

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936504:1,585...14,592
Ensembl chrNW_004936504:1,639...14,031

G

paired like homeobox 2B

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936482:8,972,433...8,975,284
Ensembl chrNW_004936482:8,972,433...8,975,284

G

PHD and ring finger domains 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936888:418,089...445,032
Ensembl chrNW_004936888:418,042...448,434

G

phosphatidylinositol glycan anchor biosynthesis class O

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587

G

plasminogen activator, urokinase

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877

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 chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796

G

prokineticin receptor 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936491:13,004,768...13,015,818

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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476

G

ret proto-oncogene

susceptibility

ISO

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

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

NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602

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 chrNW_004936789:872,760...1,053,606
Ensembl chrNW_004936789:933,877...1,053,566

G

serpin family F member 1

ISO

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113

G

sonic hedgehog signaling molecule

ISO

NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599

G

solute carrier family 22 member 1

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745

G

solute carrier family 2 member 1

ISO

NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713

G

SNF8 subunit of ESCRT-II

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936490:12,507,147...12,520,424
Ensembl chrNW_004936490:12,507,116...12,523,674

G

SRY-box transcription factor 10

ISO

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

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

G

syntaxin 1A

ISO

NCBI chrNW_004936543:2,909,560...2,918,175
Ensembl chrNW_004936543:2,909,552...2,918,770

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 chrNW_004936521:7,926,509...7,934,923
Ensembl chrNW_004936521:7,926,509...7,938,171

G

transforming growth factor beta 2

ISO

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

PMID:25741868 PMID:26017485 PMID:28492532

NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007

G

thrombospondin 4

ISO

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

NCBI chrNW_004936549:7,781,214...7,828,569
Ensembl chrNW_004936549:7,780,842...7,829,379

G

transmembrane protein 165

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936482:17,760,532...17,785,466
Ensembl chrNW_004936482:17,760,384...17,785,587

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 chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363

G

UTP25 small subunit processome component

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936557:3,244,274...3,268,853
Ensembl chrNW_004936557:3,223,470...3,268,888

G

vinculin

ISO

ClinVar Annotator: match by term: Hirschsprung disease

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004936521:5,051,077...5,163,036
Ensembl chrNW_004936521:5,050,900...5,163,086

G

Wnt family member 8B

ISO

NCBI chrNW_004936600:5,163,940...5,187,098
Ensembl chrNW_004936600:5,163,972...5,187,224

G

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

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936538:7,518,283...7,558,458
Ensembl chrNW_004936538:7,517,271...7,558,854

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

G

zinc fingers and homeoboxes 2

ISO

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

NCBI chrNW_004936470:24,315,371...24,476,063
Ensembl chrNW_004936470:24,315,404...24,474,282

G

zinc finger protein 592

ISO

ClinVar Annotator: match by term: Hirschsprung disease

NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188

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 chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718

G

Rho GTPase activating protein 15

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:33,203,456...33,554,167
Ensembl chrNW_004936469:32,951,231...33,528,407

G

glycosyltransferase like domain containing 1

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:32,514,679...32,791,418
Ensembl chrNW_004936469:32,539,891...32,790,374

G

histamine N-methyltransferase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:38,125,877...38,166,429
Ensembl chrNW_004936469:38,122,454...38,166,398

G

kynureninase

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:33,632,885...33,805,158
Ensembl chrNW_004936469:33,632,892...33,734,433

G

LDL receptor related protein 1B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283

G

neurexophilin 2

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:37,402,071...37,509,488
Ensembl chrNW_004936469:37,402,858...37,509,500

G

speckle type BTB/POZ protein like

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:37,608,044...37,661,337
Ensembl chrNW_004936469:37,603,803...37,661,436

G

thrombospondin type 1 domain containing 7B

ISO

ClinVar Annotator: match by term: Mowat-Wilson syndrome

NCBI chrNW_004936469:38,421,034...39,231,110
Ensembl chrNW_004936469:38,419,415...39,121,981

G

zinc finger E-box binding homeobox 2

ISO

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

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

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero

ISO

OMIM:609136

NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160

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 chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796

G

SRY-box transcription factor 10

severity

ISO

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

OMIM
ClinVar
RGD

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

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

Total Intestinal Aganglionosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

ISO

ClinVar Annotator: match by term: Aganglionosis, total intestinal

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

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

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 chrNW_004936530:1,744,216...1,766,602
Ensembl chrNW_004936530:1,744,199...1,765,027

G

endothelin receptor type B

ISO

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

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

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

SRY-box transcription factor 10

ISO

DNA:missense mutations,insertion,deletion:cds:

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

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

ISO

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

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

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

RNA polymerase II, I and III subunit F

ISO

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

NCBI chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796

G

SRY-box transcription factor 10

ISO

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

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

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

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

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

NCBI chrNW_004936530:1,744,216...1,766,602
Ensembl chrNW_004936530:1,744,199...1,765,027

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 chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796

G

SRY-box transcription factor 10

ISO

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

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

NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024

Term paths to the root

Path 1
Term	Annotations
disease	14641
disease of anatomical entity	14330
gastrointestinal system disease	6211
intestinal disease	2792
colonic disease	2109
megacolon	365
Hirschsprung's disease +	160
toxic megacolon	0

paths to the root