RGD DISEASE ONTOLOGY - ANNOTATIONS
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: Hirschsprung's disease
Accession: DOID:10487
browse the term
Definition: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Synonyms: exact_synonym: HSCR; HSCR1; HSCR2; HSCR3; HSCR4; HSCR5; HSCR6; HSCR7; HSCR8; HSCR9; Hirschsprung disease; Hirschsprungs disease; MGC; aganglionic megacolon; colonic aganglionosis; congenital intestinal aganglionosis; congenital megacolon; macrocolon; pelvirectal achalasia; rectosigmoid aganglionosis; rectosigmoid colon aganglionosis; total colonic aganglionosis
narrow_synonym: Hirschsprung disease, dominant; Hirschsprung disease, recessive
related_synonym: Hirschsprung Disease, Susceptibility to, 1; Hirschsprung Disease, Susceptibility to, 2; Hirschsprung Disease, Susceptibility to, 3; Hirschsprung Disease, Susceptibility to, 4; Hirschsprung Disease, Susceptibility to, 5; Hirschsprung Disease, Susceptibility to, 6; Hirschsprung Disease, Susceptibility to, 7; Hirschsprung Disease, Susceptibility to, 8; Hirschsprung Disease, Susceptibility to, 9; Hirschsprung disease, protection against
primary_id: MESH:D006627
alt_id: OMIM:142623 ; OMIM:600155 ; OMIM:600156 ; OMIM:606874 ; OMIM:606875 ; OMIM:608462 ; OMIM:611644 ; OMIM:613711 ; OMIM:613712 ; RDO:0000841
xref: GARD:6660 ; ICD10CM:Q43.1 ; NCI:C34700 ; OMIM:PS142623 ; ORDO:388
For additional species annotation, visit the
Alliance of Genome Resources .
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A2m
alpha-2-macroglobulin
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
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Ache
acetylcholinesterase
ISO
RGD
PMID:21991983
RGD:5509847
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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Aebp2
AE binding protein 2
ISS
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
MouseDO
NCBI chr 4:174,799,378...174,863,260
Ensembl chr 4:174,810,959...174,863,260
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Arhgap22
Rho GTPase activating protein 22
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,454,269...9,613,508
Ensembl chr16:9,486,832...9,613,528
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Asah2
N-acylsphingosine amidohydrolase 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 1:250,557,042...250,665,083
Ensembl chr 1:250,557,044...250,630,677
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
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Axin2
axin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:21626677 PMID:25260786 PMID:25637381 PMID:27696107 PMID:28492532 PMID:29641532
NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429387
NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
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Cavin2
caveolae associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25792468
NCBI chr 9:55,244,136...55,256,153
Ensembl chr 9:55,243,255...55,256,340
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Cd14
CD14 molecule
IEP
protein:increased expression:intestine:
RGD
PMID:15117676
RGD:7193054
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Chat
choline O-acetyltransferase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr18:407,517...414,110
Ensembl chr18:408,219...410,098
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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Ctxnd1
cortexin domain containing 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 1:146,659,395...146,706,084
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Dennd3
DENN domain containing 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708
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Depdc1
DEP domain containing 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 2:264,704,738...264,738,265
Ensembl chr 2:264,704,769...264,738,257
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Des
desmin
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Dppa5
developmental pluripotency associated 5
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 8:85,711,560...85,713,313
Ensembl chr 8:85,711,795...85,712,647 Ensembl chr 7:85,711,795...85,712,647 Ensembl chr 3:85,711,795...85,712,647
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Hirschsprung Disease
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537
NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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Drgx
dorsal root ganglia homeobox
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,823,872...8,853,430
Ensembl chr16:8,823,872...8,853,430
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Dscam
DS cell adhesion molecule
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
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Ece1
endothelin converting enzyme 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hirschsprung disease
CTD ClinVar
PMID:9915973
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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Edn3
endothelin 3
susceptibility
ISO
DNA:point mutation:exon:A17T, A224T ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 ClinVar Annotator: match by term: Hirschsprung Disease, Dominant ClinVar Annotator: match by term: Hirschsprung disease CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:613712
ClinVar OMIM CTD
PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 PMID:19556619 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 , PMID:9359047
RGD:1601003
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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Ednrb
endothelin receptor type B
susceptibility treatment
ISO IAGP IMP
DNA:point mutation:exon:W276C ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: Hirschsprung disease ClinVar Annotator: match by term: Hirschsprung Disease, Recessive CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600155
ClinVar OMIM CTD
PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 PMID:9359036 PMID:9760196 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29407415 , PMID:8001158 , PMID:22132166 , PMID:21915282 , PMID:9739043 , PMID:8589685
RGD:1601008 , RGD:6480215 , RGD:6480217 , RGD:628516 , RGD:1342447
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282 , PMID:22132166
RGD:6480217 , RGD:6480215
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Erbb2
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
MouseDO
PMID:12526770
RGD:734940
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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Etfdh
electron transfer flavoprotein dehydrogenase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
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F5
coagulation factor V
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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Fam170b
family with sequence similarity 170, member B
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,074,044...9,076,885
Ensembl chr16:9,074,033...9,076,865
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25741868
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr15:15,697,292...16,862,873
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 2:193,565,401...193,574,297
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Fmn2
formin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr13:92,569,256...92,887,302
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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Frmpd2
FERM and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,745,171...9,879,490
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
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Gdnf
glial cell derived neurotrophic factor
susceptibility
ISO
ClinVar Annotator: match by OMIM:613711 ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 ClinVar Annotator: match by term: Hirschsprung Disease, Dominant CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 PMID:9497256 PMID:10790203 PMID:10917288 PMID:11565554 PMID:11823451 PMID:12640453 PMID:19184120 PMID:21206993 PMID:22729463 PMID:24033266 PMID:24997227 PMID:25741868 PMID:28492532
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Gfra1
GDNF family receptor alpha 1
ISO ISS
ClinVar Annotator: match by term: Hirschsprung disease OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar MouseDO
PMID:17507417
RGD:6218967
NCBI chr 1:279,203,046...279,572,789
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:missense mutation:cds:p.K173N (human) (rs1065411)
RGD
PMID:20661602
RGD:12792222
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:missense mutation:cds:p.V155I (human) (rs2266637)
RGD
PMID:20661602
RGD:12792222
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Hdac8
histone deacetylase 8
ISO
protein:decreased expression:colon (human)
RGD
PMID:16771768
RGD:13208819
NCBI chr X:72,163,777...72,370,058
Ensembl chr X:72,163,777...72,370,044
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
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Ihh
Indian hedgehog signaling molecule
ISS
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
MouseDO
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Iqcf5
IQ motif containing F5
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 8:115,213,469...115,214,854
Ensembl chr 8:115,213,471...115,214,895
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Itgb1
integrin subunit beta 1
ISS
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
MouseDO
NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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Kit
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 chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Klrg1
killer cell lectin like receptor G1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:21395909
RGD:6483043
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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L3mbtl4
L3MBTL histone methyl-lysine binding protein 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 9:116,521,937...116,689,388
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Lingo2
leucine rich repeat and Ig domain containing 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 5:51,466,367...51,638,161
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LOC680885
hypothetical protein LOC680885
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,553,711...8,564,380
Ensembl chr16:8,553,768...8,564,379
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Lrrc18
leucine rich repeat containing 18
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,234,341...9,258,849
Ensembl chr16:9,235,888...9,258,538
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Man2a2
mannosidase, alpha, class 2A, member 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:142,141,695...142,164,561
Ensembl chr 1:142,143,799...142,164,263
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Mapk8
mitogen-activated protein kinase 8
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
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Mir128-1
microRNA 128-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429387
NCBI chr13:44,916,534...44,916,615
Ensembl chr13:44,916,534...44,916,615
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Mir195
microRNA 195
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25007945
NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387
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Mir206
microRNA 206
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25792468
NCBI chr 9:26,791,764...26,791,847
Ensembl chr 9:26,791,764...26,791,847
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Msmb
microseminoprotein, beta
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,280,275...8,300,853
Ensembl chr16:8,280,275...8,300,852
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Mtcp1
mature T-cell proliferation 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr18:411,159...411,934
Ensembl chr18:411,455...411,849
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:25741868
NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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Ncoa4
nuclear receptor coactivator 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,302,950...8,323,294
Ensembl chr16:8,302,950...8,323,293
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Ngfr
nerve growth factor receptor
ISO
protein:decreased expression:lamina propria:lack of staining is a marker for HD (human)
RGD
PMID:7807351
RGD:5508387
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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Notch4
notch receptor 4
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22974608
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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Nrg3
neuregulin 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:28492532
NCBI chr16:15,763,031...16,932,208
Ensembl chr16:15,764,632...15,798,974
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Nrtn
neurturin
ISO
RGD
PMID:9700200
RGD:1600267
NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:altered expression:intestine
RGD
PMID:8943115
RGD:5684546
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
G
Nup98
nucleoporin 98 and 96 precursor
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
G
Oas3
2'-5'-oligoadenylate synthetase 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr12:41,313,081...41,368,217
Ensembl chr12:41,316,764...41,336,562
G
Ogdhl
oxoglutarate dehydrogenase L
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,497,495...8,523,552
Ensembl chr16:8,497,569...8,523,557
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
G
Parg
poly (ADP-ribose) glycohydrolase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
G
Pcdh15
protocadherin related 15
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
G
Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
G
Phax
phosphorylated adaptor for RNA export
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr18:51,662,294...51,678,981
Ensembl chr18:51,662,294...51,678,980
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
G
Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:25741868
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
G
Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
G
Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
G
Ppid
peptidylprolyl isomerase D
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 2:178,354,830...178,366,843
Ensembl chr 2:178,354,890...178,366,685
G
Prokr1
prokineticin receptor 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 4:119,375,790...119,386,551
Ensembl chr 4:119,375,778...119,386,590
G
Ret
ret proto-oncogene
susceptibility
ISO
ClinVar Annotator: match by term: Hirschsprung disease ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 ClinVar Annotator: match by term: Hirschsprung's disease ClinVar Annotator: match by term: Hirschsprung Disease, Dominant DNA:SNPs:exon, intron:multiple CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hirschsprung disease, protection against
ClinVar OMIM CTD
PMID:7581377 PMID:7633441 PMID:7647787 PMID:7849720 PMID:7874109 PMID:7881414 PMID:8103403 PMID:8114938 PMID:8114939 PMID:8765374 PMID:8797874 PMID:8807338 PMID:8896568 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9047383 PMID:9067749 PMID:9068588 PMID:9090527 PMID:9146685 PMID:9230192 PMID:9384613 PMID:9497256 PMID:9502784 PMID:9506724 PMID:9681852 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9879991 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10921886 PMID:10982477 PMID:11230481 PMID:11694544 PMID:11955539 PMID:12000816 PMID:12205548 PMID:12566528 PMID:12640453 PMID:12686527 PMID:12711285 PMID:14561794 PMID:14566559 PMID:14627689 PMID:14633923 PMID:14715928 PMID:15320968 PMID:15472167 PMID:15531714 PMID:15741265 PMID:15744028 PMID:15753368 PMID:15771139 PMID:15829955 PMID:15834508 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16322339 PMID:16388093 PMID:16441254 PMID:16565500 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17021738 PMID:17102091 PMID:17108762 PMID:17188172 PMID:17316110 PMID:17372903 PMID:17483988 PMID:17610518 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18206480 PMID:18322301 PMID:19029228 PMID:19336503 PMID:19469690 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20080836 PMID:20152359 PMID:20456320 PMID:20473317 PMID:20516206 PMID:20598273 PMID:20956458 PMID:20979234 PMID:20981092 PMID:21311890 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21765987 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22174939 PMID:22395866 PMID:22574178 PMID:22584710 PMID:22648184 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23067224 PMID:23084198 PMID:23527089 PMID:23723040 PMID:23744765 PMID:24033266 PMID:24055113 PMID:24134185 PMID:24336963 PMID:24375508 PMID:24728327 PMID:24805091 PMID:25425582 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25950813 PMID:26071011 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26556299 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27525386 PMID:27847096 PMID:27884173 PMID:28018431 PMID:28099363 PMID:28492532 PMID:28946813 PMID:29020875 PMID:29338689 PMID:30031151 PMID:30122538 PMID:30197081 PMID:30349395 PMID:30644554 PMID:31510104 , PMID:24897126
RGD:12910713
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
G
RGD1560010
RGD1560010
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 2:178,389,986...178,393,118
Ensembl chr 2:178,389,799...178,393,113
G
RGD1564899
similar to chromosome 10 open reading frame 71
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,879,907...8,907,462
Ensembl chr16:8,881,138...8,885,797
G
Rxfp1
relaxin family peptide receptor 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 2:178,402,411...178,520,213
Ensembl chr 2:178,399,274...178,521,038
G
Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
G
Sgms1
sphingomyelin synthase 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
G
Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:20972907
RGD:12801434
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
G
Slc18a3
solute carrier family 18 member A3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
G
Slc22a1
solute carrier family 22 member 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
G
Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:10975929
RGD:12879497
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
G
Slc8a1
solute carrier family 8 member A1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
G
Snf8
SNF8 subunit of ESCRT-II
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr10:83,856,331...83,868,621
Ensembl chr10:83,856,280...83,868,598
G
Sox10
SRY-box transcription factor 10
ISO
DNA:frameshift:cds: ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:9560246
RGD:12802335
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
G
Stx1a
syntaxin 1A
ISO
RGD
PMID:11345516
RGD:1581432
NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
G
Tbata
thymus, brain and testes associated
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165
G
Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Hirschsprung Disease
ClinVar
PMID:25741868 PMID:26017485 PMID:28492532
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
G
Timm23
translocase of inner mitochondrial membrane 23
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:8,324,038...8,350,067
Ensembl chr16:8,324,036...8,350,067
G
Tmem165
transmembrane protein 165
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
G
Tmem273
transmembrane protein 273
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,023,387...9,054,664
Ensembl chr16:9,023,387...9,054,664
G
Utp25
UTP25, small subunit processor component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25007945
NCBI chr13:111,828,052...111,849,654
Ensembl chr13:111,828,043...111,849,653
G
Vcl
vinculin
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:24033266 PMID:25741868
NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
G
Vstm4
V-set and transmembrane domain containing 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,088,142...9,172,855
Ensembl chr16:9,092,302...9,172,888
G
Wdfy4
WDFY family member 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:21681106
NCBI chr16:9,194,446...9,430,764
Ensembl chr16:9,194,424...9,430,743
G
Wnt8b
Wnt family member 8B
ISO
RGD
PMID:20972907
RGD:12801434
NCBI chr 1:264,244,150...264,266,136
Ensembl chr 1:264,260,505...264,264,302
G
Ywhae
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
Mowat-Wilson syndrome, OMIM:235730 ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:11279515
RGD:1599885
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
G
Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
G
Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532
NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
G
Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
G
Actrt2
actin-related protein T2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
G
Agrn
agrin
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
G
Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
G
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
G
Aurkaip1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
G
B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
G
C1qtnf12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
G
Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
G
Cdk11b
cyclin-dependent kinase 11B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
G
Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
G
Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
G
Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
G
Faap20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
G
Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,139,345...173,141,564
G
Gabrd
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
G
Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
G
Hes5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
G
Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
G
Kifbp
kinesin family binding protein
ISO
ClinVar Annotator: match by OMIM:609460 ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532
NCBI chr20:32,191,731...32,211,295
Ensembl chr20:32,191,734...32,211,453
G
Mib2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
G
Mir200a
microRNA 200a
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,489,366...173,489,454
G
Mir200b
microRNA 200b
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
G
Mir429
microRNA 429
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
G
Mmel1
membrane metallo-endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
G
Mmp23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
G
Morn1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
G
Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
G
Mxra8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
G
Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
G
Pank4
pantothenate kinase 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
G
Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
G
Plch2
phospholipase C, eta 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
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Prkcz
protein kinase C, zeta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
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Prxl2b
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
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Pusl1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
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Rer1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
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RGD1311517
similar to RIKEN cDNA 9430015G10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
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Rnf223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,561,016...173,566,844
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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Ski
SKI proto-oncogene
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:12419246 PMID:12857746 PMID:19112531 PMID:19114989 PMID:23023332 PMID:23103230 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
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Slc35e2b
solute carrier family 35, member E2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
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Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
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Tas1r3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
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Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
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Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
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Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
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Tnfrsf14
TNF receptor superfamily member 14
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
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Tnfrsf18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Ttc34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
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Ttll10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
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Ube2j2
ubiquitin-conjugating enzyme E2, J2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
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Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
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Ahnak
AHNAK nucleoprotein
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr 1:225,184,883...225,429,638
Ensembl chr 1:225,184,939...225,215,015
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Ccr9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130
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Cluh
clustered mitochondria homolog
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr10:61,432,872...61,454,445
Ensembl chr10:61,432,819...61,454,444
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Cntn5
contactin 5
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 8:7,812,371...9,033,962
Ensembl chr 8:7,814,895...8,524,643
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Dennd3
DENN domain containing 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537
NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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Fat3
FAT atypical cadherin 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Gdnf
glial cell derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Gfra1
GDNF family receptor alpha 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 1:279,203,046...279,572,789
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Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:9302279 PMID:19829694 PMID:25741868 PMID:28492532
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24728327 PMID:28492532
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
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Lztfl1
leucine zipper transcription factor-like 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
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Nav2
neuron navigator 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 1:104,575,765...104,941,554
Ensembl chr 1:104,576,589...104,941,552
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Ncln
nicalin
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 7:11,081,544...11,091,583
Ensembl chr 7:11,081,536...11,091,584
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24728327 PMID:28492532
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 9:69,496,875...69,609,802
Ensembl chr 9:69,497,121...69,612,087
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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Nup98
nucleoporin 98 and 96 precursor
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
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Olr1376
olfactory receptor 1376
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr10:12,673,136...12,674,077
Ensembl chr10:12,673,136...12,674,077
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Pcdha1
protocadherin alpha 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,951,094...30,215,896
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Pcdha10
protocadherin alpha 10
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,010,918...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha11
protocadherin alpha 11
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,017,918...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha12
protocadherin alpha 12
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,023,828...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha13
protocadherin alpha 13
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,036,887...30,215,897
Ensembl chr18:29,987,206...30,215,897
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Pcdha2
protocadherin alpha 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,960,072...30,215,896
G
Pcdha3
protocadherin alpha 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,966,245...30,215,896
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Pcdha4
protocadherin alpha 4
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,950,217...30,215,901
Ensembl chr18:29,987,206...30,215,897 Ensembl chr18:29,987,206...30,215,897 Ensembl chr18:29,987,206...30,215,897
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Pcdha5
protocadherin alpha 5
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,980,268...30,215,897
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Pcdha6
protocadherin alpha 6
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,987,206...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha7
protocadherin alpha 7
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,993,361...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha8
protocadherin alpha 8
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:29,999,290...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdha9
protocadherin alpha 9
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,004,565...30,215,897
Ensembl chr18:29,987,206...30,215,897
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Pcdhac1
protocadherin alpha subfamily C, 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,114,708...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pcdhac2
protocadherin alpha subfamily C, 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr18:30,172,740...30,215,896
Ensembl chr18:29,987,206...30,215,897
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Pgrmc2
progesterone receptor membrane component 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 2:127,986,106...128,002,005
Ensembl chr 2:127,986,109...128,002,005
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Plau
plasminogen activator, urokinase
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24357527
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:16231297 PMID:23334667 PMID:24728327 PMID:26893459 PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 PMID:7904208 PMID:8001158 PMID:8084609 PMID:8114938 PMID:8114939 PMID:8114940 PMID:9090527 PMID:9502784 PMID:9506724 PMID:9700200 PMID:9727738 PMID:9760196 PMID:10022819 PMID:10090908 PMID:10521317 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10922382 PMID:10980580 PMID:11230481 PMID:11436122 PMID:11589684 PMID:11732489 PMID:11953745 PMID:11955539 PMID:12000816 PMID:12016484 PMID:12086152 PMID:12205548 PMID:12214285 PMID:12566528 PMID:12628594 PMID:12702567 PMID:12872262 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15320968 PMID:15472167 PMID:15531548 PMID:15531714 PMID:15741265 PMID:15753368 PMID:15829955 PMID:15834508 PMID:15870131 PMID:15933516 PMID:16091499 PMID:16118333 PMID:16388093 PMID:16424056 PMID:16441254 PMID:16649977 PMID:16705552 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17102091 PMID:17344846 PMID:17483988 PMID:17610518 PMID:18058472 PMID:18062802 PMID:18252215 PMID:18280283 PMID:18284634 PMID:18322301 PMID:18772120 PMID:18805915 PMID:18976163 PMID:19269918 PMID:19572138 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20039896 PMID:20080836 PMID:20473317 PMID:20516206 PMID:20532249 PMID:20598273 PMID:20801952 PMID:20956458 PMID:20981092 PMID:21311890 PMID:21349203 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22395866 PMID:22517557 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23461807 PMID:23527089 PMID:23723040 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24375508 PMID:24429398 PMID:24651702 PMID:24728327 PMID:24755471 PMID:24897126 PMID:25256751 PMID:25425582 PMID:25637381 PMID:25741868 PMID:25950813 PMID:25985138 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:27153395 PMID:27379493 PMID:27600092 PMID:27798940 PMID:27884173 PMID:28492532 PMID:28946813 PMID:29263839 PMID:29642553 PMID:30306255 PMID:30644554 PMID:30927507 PMID:31510104
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
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Serpinf1
serpin family F member 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:28492532
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24357527
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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Tbata
thymus, brain and testes associated
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868 PMID:26017485 PMID:28492532
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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Thbs4
thrombospondin 4
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 2:22,343,727...22,385,855
Ensembl chr 2:22,343,727...22,385,855
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
G
Zhx2
zinc fingers and homeoboxes 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 7:97,559,653...97,707,872
Ensembl chr 7:97,559,841...97,695,739
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by null
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Ece1
endothelin converting enzyme 1
ISO
ClinVar Annotator: match by OMIM:613870
OMIM ClinVar
PMID:8530372 PMID:9915973
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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Arhgap15
Rho GTPase activating protein 15
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219
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Gtdc1
glycosyltransferase-like domain containing 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985
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Hnmt
histamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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Kynu
kynureninase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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Lrp1b
LDL receptor related protein 1B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:25,201,194...27,348,126
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Nxph2
neurexophilin 2
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:67,027...309,536
Ensembl chr 3:307,204...307,980
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Spopl
speckle type BTB/POZ protein like
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:397,834...471,651
Ensembl chr 3:401,429...471,634
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Thsd7b
thrombospondin type 1 domain containing 7B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr13:46,026,943...46,931,619
Ensembl chr13:46,169,963...46,930,858
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:235730
OMIM ClinVar CTD
PMID:2030158 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24401652 PMID:24715670 PMID:25326635 PMID:25326637 PMID:25608121 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26809768 PMID:26993267 PMID:27831545 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:32860008
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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Zeb2-as1
ZEB2 antisense RNA 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:29,994,753...29,997,626
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Mpz
myelin protein zero
ISS
OMIM:609136
MouseDO
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar Annotator: match by term: PCWH Syndrome
ClinVar
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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Sox10
SRY-box transcription factor 10
severity
ISO
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar Annotator: match by term: PCWH Syndrome ClinVar Annotator: match by OMIM:609136
OMIM ClinVar
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532 , PMID:25959061
RGD:12802339
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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Ednrb
endothelin receptor type B
IAGP ISO
ClinVar Annotator: match by term: Near-total intestinal aganglionosis ClinVar Annotator: match by term: Total intestinal aganglionosis
ClinVar
PMID:16944573 PMID:18162831 PMID:25741868 , PMID:21915282 , PMID:22132166
RGD:6480217 , RGD:6480215
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282 , PMID:22132166
RGD:6480217 , RGD:6480215
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Edn3
endothelin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8630502 PMID:8630503 PMID:17516928
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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Ednrb
endothelin receptor type B
IAGP ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly
ClinVar
PMID:8001158 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 , PMID:21915282
RGD:6480217
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282
RGD:6480217
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Sox10
SRY-box transcription factor 10
ISO
DNA:missense mutations,insertion,deletion:cds:
RGD
PMID:9462749
RGD:12832744
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar Annotator: match by OMIM:277580
OMIM ClinVar
PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10528251 PMID:10664228 PMID:10874640 PMID:11891690 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar
PMID:25741868
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar
PMID:25741868
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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Edn3
endothelin 3
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4B ClinVar Annotator: match by OMIM:613265
OMIM ClinVar
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Waardenburg syndrome, type 4c ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar Annotator: match by OMIM:613266
OMIM ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
disease of anatomical entity
15370
gastrointestinal system disease
4690
Digestive System Abnormalities
469
Hirschsprung's disease
224
Al Gazali Hirschsprung Syndrome
0
Bresheck/Bresek Syndrome
0
Cartilage Hair Hypoplasia Like Syndrome
0
Goldberg-Shprintzen syndrome
54
Hirschsprung Disease 1
53
Hirschsprung Disease Ganglioneuroblastoma
1
Hirschsprung Disease Polydactyly Heart Disease
0
Hirschsprung Disease Type 3
0
Hirschsprung Disease Type d Brachydactyly
0
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
0
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
0
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
0
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
1
Laurence Prosser Rocker Syndrome
0
Mowat-Wilson syndrome
10
PCWH syndrome
3
Santos Mateus Leal Syndrome
0
Total Intestinal Aganglionosis
6
Waardenburg Syndrome Type 4 +
7
cartilage-hair hypoplasia
1
Path 2
disease
16123
disease of anatomical entity
15370
gastrointestinal system disease
4690
Gastrointestinal Diseases
2622
intestinal disease
1576
colonic disease
1068
megacolon
224
Hirschsprung's disease
224
Al Gazali Hirschsprung Syndrome
0
Bresheck/Bresek Syndrome
0
Cartilage Hair Hypoplasia Like Syndrome
0
Goldberg-Shprintzen syndrome
54
Hirschsprung Disease 1
53
Hirschsprung Disease Ganglioneuroblastoma
1
Hirschsprung Disease Polydactyly Heart Disease
0
Hirschsprung Disease Type 3
0
Hirschsprung Disease Type d Brachydactyly
0
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
0
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
0
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
0
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
1
Laurence Prosser Rocker Syndrome
0
Mowat-Wilson syndrome
10
PCWH syndrome
3
Santos Mateus Leal Syndrome
0
Total Intestinal Aganglionosis
6
Waardenburg Syndrome Type 4 +
7
cartilage-hair hypoplasia
1