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: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)
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: CSMD3-ASSOCIATED HIRSCHSPRUNG DISEASE; 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: MIM:142623 ; MIM:600155 ; MIM:600156 ; MIM:606874 ; MIM:606875 ; MIM:608462 ; MIM:611644 ; MIM:613711 ; MIM:613712
xref: EFO:0004241 ; GARD:6660 ; ICD10CM:Q43.1 ; MIM:PS142623 ; MONDO:0018309 ; NCI:C34700 ; ORDO:388
For additional species annotation, visit the
Alliance of Genome Resources .
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Ache
acetylcholinesterase
ISO
RGD
PMID:21991983
RGD:5509847
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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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 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100
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Ahnak
AHNAK nucleoprotein
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926
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Axin2
axin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 PMID:28492532 PMID:29641532 More...
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429387
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Cavin2
caveolae associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25792468
NCBI chr 9:50,302,079...50,314,096
Ensembl chr 9:50,301,206...50,314,147
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Ccr9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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Cd14
CD14 molecule
IEP
protein:increased expression:intestine:
RGD
PMID:15117676
RGD:7193054
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cluh
clustered mitochondria homolog
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345
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Cntn5
contactin 5
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csmd3
CUB and Sushi multiple domains 3
ISO
ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease
ClinVar
NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369
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Dennd3
DENN domain containing 3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592
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Depdc1
DEP domain containing 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951
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Dppa5
developmental pluripotency associated 5
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 8:79,215,341...79,217,282
Ensembl chr 8:79,215,362...79,216,570 Ensembl chr 7:79,215,362...79,216,570 Ensembl chr 1:79,215,362...79,216,570 Ensembl chr 3:79,215,362...79,216,570
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 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:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 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:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Dscam
DS cell adhesion molecule
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Ece1
endothelin converting enzyme 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aganglionic megacolon
CTD ClinVar
PMID:9915973
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn3
endothelin 3
ISO ISS
DNA:point mutation:exon:A17T, A224T OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD RGD
PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 PMID:19556619 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:9359047 More...
RGD:1601003
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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Ednrb
endothelin receptor type B
treatment
ISO ISS IAGP IMP
DNA:point mutation:exon:W276C ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 PMID:9760196 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:12628594 PMID:14633923 PMID:16145050 PMID:16518596 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:17554617 PMID:17618893 PMID:18162831 PMID:18633623 PMID:18758497 PMID:19320733 PMID:20009762 PMID:20127975 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29106856 PMID:29407415 PMID:30218169 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 PMID:8001158 PMID:22132166 PMID:21915282 PMID:9739043 PMID:8589685 More...
RGD:1601008 , RGD:6480215 , RGD:6480217 , RGD:628516 , RGD:1342447
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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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 RGD
PMID:12526770
RGD:734940
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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F5
coagulation factor V
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fat3
FAT atypical cadherin 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:26559152 PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fmn2
formin 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411
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Gdnf
glial cell derived neurotrophic factor
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
CTD ClinVar MouseDO OMIM
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:26489027 PMID:28492532 PMID:30476936 More...
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gfra1
GDNF family receptor alpha 1
ISO ISS
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar MouseDO RGD
PMID:17507417
RGD:6218967
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:9302279 PMID:25741868 PMID:28492532
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hdac8
histone deacetylase 8
ISO
protein:decreased expression:colon (human)
RGD
PMID:16771768
RGD:13208819
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Ihh
Indian hedgehog signaling molecule
ISS ISO
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
MouseDO ClinVar
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Iqcf5
IQ motif containing F5
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 8:107,151,477...107,152,862
Ensembl chr 8:107,151,462...107,152,869
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar
PMID:28492532
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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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 chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:24728327 PMID:28492532
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar RGD
PMID:28492532 PMID:21395909
RGD:6483043
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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Lztfl1
leucine zipper transcription factor-like 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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Man2a2
mannosidase, alpha, class 2A, member 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mgam2
maltase-glucoamylase 2
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742
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Mir128-1
microRNA 128-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429387
NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530
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Mir195
microRNA 195
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25007945
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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Mir206
microRNA 206
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25792468
NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:25741868
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Nav2
neuron navigator 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337
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Ncln
nicalin
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 7:8,211,978...8,221,938
Ensembl chr 7:8,211,996...8,221,934
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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 chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Notch4
notch receptor 4
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22974608
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrg3
neuregulin 3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:14,229,270...15,352,505
Ensembl chr16:14,235,157...15,352,368
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
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Nrtn
neurturin
ISO
RGD
PMID:9700200
RGD:1600267
NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:altered expression:intestine
RGD
PMID:8943115
RGD:5684546
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Nup98
nucleoporin 98 and 96 precursor
ISO
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Oas3
2'-5'-oligoadenylate synthetase 3
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr12:35,779,028...35,802,781
Ensembl chr12:35,779,022...35,802,781
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Or1f34
olfactory receptor family 1 subfamily F member 34
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:28492532
NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
G
Pcdh15
protocadherin related 15
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
G
Pcdha1
protocadherin alpha 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha10
protocadherin alpha 10
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha11
protocadherin alpha 11
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha12
protocadherin alpha 12
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha13
protocadherin alpha 13
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha2
protocadherin alpha 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha3
protocadherin alpha 3
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha4
protocadherin alpha 4
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211
G
Pcdha5
protocadherin alpha 5
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha6
protocadherin alpha 6
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha7
protocadherin alpha 7
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha8
protocadherin alpha 8
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdha9
protocadherin alpha 9
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pcdhac1
protocadherin alpha subfamily C, 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr18:28,740,353...28,750,216
Ensembl chr18:28,581,225...28,846,211
G
Pcdhac2
protocadherin alpha subfamily C, 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
G
Pgrmc2
progesterone receptor membrane component 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 2:124,068,257...124,084,155
Ensembl chr 2:124,068,260...124,084,155
G
Phax
phosphorylated adaptor for RNA export
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
PMID:25741868
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
G
Plau
plasminogen activator, urokinase
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:24357527
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
G
Prokr1
prokineticin receptor 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379
G
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:16231297 PMID:23334667 PMID:24728327 PMID:26467025 PMID:26559152 PMID:26893459 PMID:28492532 PMID:33729574 More...
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Ret
ret proto-oncogene
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 DNA:SNPs:exon, intron:multiple
CTD OMIM ClinVar MouseDO RGD
PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 PMID:7581377 PMID:7595171 PMID:7608256 PMID:7633441 PMID:7647787 PMID:7704557 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7849720 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7904208 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7915822 PMID:7977365 PMID:8001158 PMID:8084609 PMID:8099202 PMID:8103403 PMID:8114938 PMID:8114939 PMID:8114940 PMID:8570194 PMID:8595427 PMID:8626834 PMID:8654369 PMID:8733882 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8825918 PMID:8855832 PMID:8894691 PMID:8896568 PMID:8896569 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9047383 PMID:9067749 PMID:9090527 PMID:9146685 PMID:9174404 PMID:9223675 PMID:9230192 PMID:9242375 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9497256 PMID:9498388 PMID:9502784 PMID:9506724 PMID:9536098 PMID:9606292 PMID:9620546 PMID:9681515 PMID:9681850 PMID:9681851 PMID:9681852 PMID:9699127 PMID:9700200 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9824583 PMID:9839497 PMID:9868860 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10049754 PMID:10076558 PMID:10090908 PMID:10220148 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10465268 PMID:10484767 PMID:10490816 PMID:10521317 PMID:10522989 PMID:10528857 PMID:10618407 PMID:10646792 PMID:10664228 PMID:10679286 PMID:10790203 PMID:10826520 PMID:10876191 PMID:10921886 PMID:10922382 PMID:10980580 PMID:10982477 PMID:11061555 PMID:11073534 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11295841 PMID:11313948 PMID:11351254 PMID:11389085 PMID:11390647 PMID:11436122 PMID:11502806 PMID:11562352 PMID:11564857 PMID:11589684 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11788682 PMID:11849247 PMID:11900218 PMID:11953745 PMID:11955539 PMID:11987030 PMID:12000816 PMID:12016484 PMID:12019403 PMID:12086152 PMID:12193298 PMID:12214285 PMID:12409662 PMID:12410354 PMID:12466368 PMID:12490841 PMID:12566528 PMID:12628594 PMID:12640453 PMID:12686527 PMID:12746565 PMID:12864791 PMID:12865274 PMID:12872262 PMID:12915470 PMID:12920219 PMID:14557476 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15277225 PMID:15292360 PMID:15320968 PMID:15331579 PMID:15386323 PMID:15472167 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15744028 PMID:15753368 PMID:15829955 PMID:15834508 PMID:15858153 PMID:15870131 PMID:15933516 PMID:15956201 PMID:15991157 PMID:16099853 PMID:16118333 PMID:16199547 PMID:16227613 PMID:16314641 PMID:16322339 PMID:16325365 PMID:16343097 PMID:16419493 PMID:16424056 PMID:16441254 PMID:16469774 PMID:16525712 PMID:16532227 PMID:16565500 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16732321 PMID:16767674 PMID:16778204 PMID:16817830 PMID:16818057 PMID:16839264 PMID:16849421 PMID:16865647 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17032739 PMID:17047083 PMID:17065770 PMID:17102080 PMID:17102083 PMID:17108110 PMID:17108762 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17270543 PMID:17316110 PMID:17344846 PMID:17372903 PMID:17384210 PMID:17466010 PMID:17483988 PMID:17540634 PMID:17573899 PMID:17576681 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17639058 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18096130 PMID:18206480 PMID:18209889 PMID:18248647 PMID:18248648 PMID:18252215 PMID:18280283 PMID:18299477 PMID:18322301 PMID:18541894 PMID:18772120 PMID:18805915 PMID:18936155 PMID:18984779 PMID:19015274 PMID:19029228 PMID:19041016 PMID:19062722 PMID:19169500 PMID:19255327 PMID:19269918 PMID:19336503 PMID:19399650 PMID:19443294 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19522830 PMID:19572138 PMID:19775624 PMID:19825962 PMID:19826964 PMID:19853744 PMID:19906784 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20065189 PMID:20080836 PMID:20103606 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20442138 PMID:20456320 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20554711 PMID:20598273 PMID:20719260 PMID:20739875 PMID:20801952 PMID:20847059 PMID:20956458 PMID:20979234 PMID:20981092 PMID:21054478 PMID:21134561 PMID:21253810 PMID:21309721 PMID:21311890 PMID:21349203 PMID:21422803 PMID:21449769 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21475823 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21552134 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21711375 PMID:21712996 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21900877 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22274720 PMID:22359510 PMID:22395866 PMID:22403753 PMID:22517557 PMID:22574178 PMID:22584709 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22747440 PMID:22811860 PMID:22837065 PMID:22865907 PMID:22900816 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23210566 PMID:23259706 PMID:23278115 PMID:23295303 PMID:23330657 PMID:23341727 PMID:23416954 PMID:23461807 PMID:23468374 PMID:23514012 PMID:23526464 PMID:23527089 PMID:23617071 PMID:23660872 PMID:23723040 PMID:23744765 PMID:23756355 PMID:23849459 PMID:23861463 PMID:23868299 PMID:24033266 PMID:24055113 PMID:24064755 PMID:24134185 PMID:24267509 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24429398 PMID:24442913 PMID:24449023 PMID:24449676 PMID:24560924 PMID:24561444 PMID:24569963 PMID:24617864 PMID:24618965 PMID:24651702 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24745698 PMID:24755471 PMID:24784869 PMID:24794695 PMID:24805091 PMID:24845513 PMID:24897126 PMID:24972642 PMID:25027091 PMID:25151137 PMID:25157968 PMID:25256751 PMID:25319874 PMID:25326637 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25515555 PMID:25569433 PMID:25624014 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25695224 PMID:25725622 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25877891 PMID:25887804 PMID:25903693 PMID:25985138 PMID:26033033 PMID:26034076 PMID:26046350 PMID:26071011 PMID:26076779 PMID:26084817 PMID:26206375 PMID:26254625 PMID:26269449 PMID:26321248 PMID:26332594 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26517685 PMID:26556299 PMID:26559152 PMID:26580448 PMID:26687385 PMID:26732158 PMID:26758973 PMID:26845104 PMID:26876062 PMID:26883533 PMID:27014708 PMID:27077130 PMID:27099842 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27525386 PMID:27527004 PMID:27539324 PMID:27600092 PMID:27657687 PMID:27673361 PMID:27683183 PMID:27698838 PMID:27717313 PMID:27782108 PMID:27798940 PMID:27807060 PMID:27809725 PMID:27847096 PMID:27854218 PMID:27884173 PMID:27994876 PMID:28018431 PMID:28099363 PMID:28125075 PMID:28152038 PMID:28166811 PMID:28202063 PMID:28276298 PMID:28323957 PMID:28469506 PMID:28492532 PMID:28566479 PMID:28569245 PMID:28578594 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29020875 PMID:29133048 PMID:29192238 PMID:29197744 PMID:29263839 PMID:29338689 PMID:29378479 PMID:29397600 PMID:29408964 PMID:29420094 PMID:29579362 PMID:29590403 PMID:29601828 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30031151 PMID:30122538 PMID:30197081 PMID:30217742 PMID:30256826 PMID:30306255 PMID:30349395 PMID:30583724 PMID:30624503 PMID:30644554 PMID:30660595 PMID:30680046 PMID:30763276 PMID:30877234 PMID:30927507 PMID:31019283 PMID:31159747 PMID:31428572 PMID:31431315 PMID:31447099 PMID:31510104 PMID:31614935 PMID:31658439 PMID:31666091 PMID:32084258 PMID:32091409 PMID:32099073 PMID:32164334 PMID:32179705 PMID:32283892 PMID:32293499 PMID:32375120 PMID:32408902 PMID:32411094 PMID:32430905 PMID:32732076 PMID:32761341 PMID:32923848 PMID:32989896 PMID:33098376 PMID:33161056 PMID:33167350 PMID:33219105 PMID:33340421 PMID:33433679 PMID:33450337 PMID:33563768 PMID:33603219 PMID:33615670 PMID:33763905 PMID:33777662 PMID:33827484 PMID:33898318 PMID:33981013 PMID:34092334 PMID:34267909 PMID:34309460 PMID:34358225 PMID:34439168 PMID:34441382 PMID:34629742 PMID:34637071 PMID:34646395 PMID:34663841 PMID:34687025 PMID:34736091 PMID:34750850 PMID:34771502 PMID:34777782 PMID:34881033 PMID:34885201 PMID:34905813 PMID:34925234 PMID:35189708 PMID:35264596 PMID:35304457 PMID:35535697 PMID:35627249 PMID:35884466 PMID:36166639 PMID:36315513 PMID:36407031 PMID:36451132 PMID:36474027 PMID:36900197 PMID:24897126 More...
RGD:12910713
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
G
Serpinf1
serpin family F member 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:20972907
RGD:12801434
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
G
Slc22a1
solute carrier family 22 member 1
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
G
Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:10975929
RGD:12879497
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
G
Snf8
SNF8 subunit of ESCRT-II
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734
G
Sox10
SRY-box transcription factor 10
ISO
DNA:frameshift:cds: ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar RGD
PMID:24357527 PMID:9560246
RGD:12802335
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Stx1a
syntaxin 1A
ISO
RGD
PMID:11345516
RGD:1581432
NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
G
Tbata
thymus, brain and testes associated
ISO
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109
G
Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:25741868 PMID:26017485 PMID:28492532
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
G
Thbs4
thrombospondin 4
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 2:23,983,158...24,025,289
Ensembl chr 2:23,983,158...24,026,313
G
Tmem165
transmembrane protein 165
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Utp25
UTP25 small subunit processome component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25007945
NCBI chr13:104,630,390...104,651,681
Ensembl chr13:104,630,391...104,651,662
G
Vcl
vinculin
ISO
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
G
Wnt8b
Wnt family member 8B
ISO
RGD
PMID:20972907
RGD:12801434
NCBI chr 1:243,354,145...243,376,000
Ensembl chr 1:243,354,086...243,374,286
G
Ywhae
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
Mowat-Wilson syndrome, OMIM:235730 ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar RGD
PMID:11279515
RGD:1599885
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
G
Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Aganglionic megacolon
ClinVar
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
G
Zhx2
zinc fingers and homeoboxes 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar
NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378
G
Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Cartilage-hair hypoplasia
ClinVar
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
G
Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
G
Actrt2
actin-related protein T2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
G
Agrn
agrin
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
G
Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
G
Arhgef16
Rho guanine nucleotide exchange factor 16
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
G
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
G
B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
G
C1qtnf12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
G
C5h1orf159
similar to human chromosome 1 open reading frame 159
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
G
Ccdc27
coiled-coil domain containing 27
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
G
Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
G
Cdk11b
cyclin-dependent kinase 11B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
G
Cep104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
G
Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
G
Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
G
Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
G
Faap20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
G
Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
G
Gabrd
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
G
Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Hes5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
G
Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
G
Kifbp
kinesin family binding protein
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome OMIM:609460
CTD ClinVar MouseDO OMIM
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 PMID:39033378 More...
NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
G
Lrrc47
leucine rich repeat containing 47
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
G
Megf6
multiple EGF-like-domains 6
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
G
Mib2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
G
Mir200a
microRNA 200a
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,648,494...166,648,582
G
Mir200b
microRNA 200b
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
G
Mir429
microRNA 429
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
G
Mmel1
membrane metallo-endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
G
Mmp23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
G
Morn1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
G
Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
G
Mxra8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
G
Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
G
Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
ClinVar
PMID:25741868
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
G
Pank4
pantothenate kinase 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
G
Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
G
Plch2
phospholipase C, eta 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
G
Prdm16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
G
Prkcz
protein kinase C, zeta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
G
Prxl2b
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,462,610...165,465,213
G
Pusl1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
G
Rer1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
G
Rnf223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
G
Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
G
Ski
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
ClinVar
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:20635359 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31602316 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
G
Slc35e2b
solute carrier family 35, member E2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
G
Smim1
small integral membrane protein 1 (Vel blood group)
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,579,327...164,584,650
G
Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
G
Tas1r3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
G
Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
G
Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
G
Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
G
Tnfrsf14
TNF receptor superfamily member 14
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
G
Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
G
Tp73
tumor protein p73
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
G
Tprg1l
tumor protein p63 regulated 1-like
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
G
Ttc34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
G
Ttll10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
G
Ube2j2
ubiquitin-conjugating enzyme E2, J2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
G
Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
G
Wrap73
WD repeat containing, antisense to TP73
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:23892090 PMID:28492532 PMID:31602316
NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
G
Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
G
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:9472650 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:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 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:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868 PMID:26559152 PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
G
Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
G
Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868
NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
G
Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24357527
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 PMID:7595171 PMID:7608256 PMID:7633441 PMID:7704557 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7849720 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7915822 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114939 PMID:8570194 PMID:8595427 PMID:8733882 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8855832 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9146685 PMID:9230192 PMID:9242375 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9498388 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9699127 PMID:9824583 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10220148 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10522989 PMID:10679286 PMID:10790203 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11295841 PMID:11351254 PMID:11389085 PMID:11436122 PMID:11562352 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11788682 PMID:11849247 PMID:11900218 PMID:11955539 PMID:11987030 PMID:12000816 PMID:12019403 PMID:12086152 PMID:12193298 PMID:12410354 PMID:12466368 PMID:12686527 PMID:12746565 PMID:12864791 PMID:12915470 PMID:12920219 PMID:14561794 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15184865 PMID:15277225 PMID:15292360 PMID:15320968 PMID:15331579 PMID:15386323 PMID:15472167 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15834508 PMID:15858153 PMID:15991157 PMID:16099853 PMID:16314641 PMID:16343097 PMID:16419493 PMID:16469774 PMID:16525712 PMID:16532227 PMID:16707008 PMID:16715139 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17032739 PMID:17047083 PMID:17065770 PMID:17102080 PMID:17102083 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17270543 PMID:17316110 PMID:17344846 PMID:17466010 PMID:17540634 PMID:17573899 PMID:17590169 PMID:17605401 PMID:17639058 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18096130 PMID:18206480 PMID:18209889 PMID:18252215 PMID:18299477 PMID:18322301 PMID:18541894 PMID:18936155 PMID:19015274 PMID:19041016 PMID:19062722 PMID:19169500 PMID:19255327 PMID:19269918 PMID:19399650 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19522830 PMID:19775624 PMID:19825962 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20065189 PMID:20080836 PMID:20103606 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20554711 PMID:20719260 PMID:20801952 PMID:20847059 PMID:20956458 PMID:20979234 PMID:21134561 PMID:21253810 PMID:21309721 PMID:21422803 PMID:21449769 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21552134 PMID:21655256 PMID:21678021 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:22025146 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22359510 PMID:22395866 PMID:22584709 PMID:22584710 PMID:22648184 PMID:22676344 PMID:22703879 PMID:22865907 PMID:22992277 PMID:23056499 PMID:23067224 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23330657 PMID:23341727 PMID:23416954 PMID:23468374 PMID:23514012 PMID:23527089 PMID:23617071 PMID:23660872 PMID:23723040 PMID:23861463 PMID:23868299 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24361808 PMID:24429398 PMID:24449023 PMID:24560924 PMID:24561444 PMID:24617864 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24745698 PMID:24755471 PMID:24784869 PMID:24845513 PMID:25027091 PMID:25157968 PMID:25256751 PMID:25319874 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25515555 PMID:25624014 PMID:25637381 PMID:25695224 PMID:25725622 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25887804 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26076779 PMID:26084817 PMID:26206375 PMID:26269449 PMID:26332594 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26687385 PMID:26732158 PMID:26758973 PMID:26845104 PMID:26876062 PMID:27014708 PMID:27099842 PMID:27379493 PMID:27525386 PMID:27527004 PMID:27539324 PMID:27657687 PMID:27673361 PMID:27698838 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28099363 PMID:28125075 PMID:28152038 PMID:28323957 PMID:28469506 PMID:28492532 PMID:28566479 PMID:28569245 PMID:28578594 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29133048 PMID:29197744 PMID:29263839 PMID:29378479 PMID:29397600 PMID:29408964 PMID:29590403 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30217742 PMID:30583724 PMID:30624503 PMID:30660595 PMID:30680046 PMID:30763276 PMID:30927507 PMID:31019283 PMID:31159747 PMID:31428572 PMID:31431315 PMID:31447099 PMID:31510104 PMID:31614935 PMID:31658439 PMID:32099073 PMID:32179705 PMID:32283892 PMID:32293499 PMID:32375120 PMID:32732076 PMID:32923848 PMID:33167350 PMID:33219105 PMID:33340421 PMID:33450337 PMID:33615670 PMID:33763905 PMID:33777662 PMID:33827484 PMID:34439168 PMID:34441382 PMID:34629742 PMID:34637071 PMID:34777782 PMID:34881033 PMID:34885201 PMID:34905813 PMID:35264596 PMID:35304457 PMID:35627249 PMID:36166639 PMID:36900197 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
G
Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:24357527
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Hirschsprung disease 1
ClinVar
PMID:25741868 PMID:26017485 PMID:28492532
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
G
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 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030 More...
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Ece1
endothelin converting enzyme 1
susceptibility
ISO
ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
G
Adnp
activity-dependent neuroprotector homeobox
ISO
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome
ClinVar
PMID:25741868
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
G
Arhgap15
Rho GTPase activating protein 15
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265
G
Gtdc1
glycosyltransferase-like domain containing 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271
G
Hnmt
histamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
G
Kynu
kynureninase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
G
Lrp1b
LDL receptor related protein 1B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
G
Nxph2
neurexophilin 2
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
G
Spopl
speckle type BTB/POZ protein like
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794
G
Thsd7b
thrombospondin type 1 domain containing 7B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501
G
Zeb2
zinc finger E-box binding homeobox 2
ISO ISS
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM:235730 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16199547 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 PMID:17576681 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23322667 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24092421 PMID:24401652 PMID:24715670 PMID:25123255 PMID:25326635 PMID:25326637 PMID:25497574 PMID:25608121 PMID:25741868 PMID:25899569 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26661037 PMID:26809768 PMID:27831545 PMID:27848944 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:29159939 PMID:29263819 PMID:29300384 PMID:30083364 PMID:30293987 PMID:30315573 PMID:31130284 PMID:31178897 PMID:31376723 PMID:31785789 PMID:32860008 PMID:33565190 PMID:34298581 PMID:36406119 PMID:36474027 More...
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
G
Zeb2-as1
ZEB2 antisense RNA 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:29,343,078...29,345,943
G
Mpz
myelin protein zero
ISS
OMIM:609136
MouseDO
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
G
Polr2f
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
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:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 More...
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Sox10
SRY-box transcription factor 10
severity
ISO ISS
ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease OMIM:609136 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 PMID:25959061 More...
RGD:12802339
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Ednrb
endothelin receptor type B
IAGP ISO
ClinVar Annotator: match by term: Aganglionosis, total intestinal
ClinVar RGD
PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 PMID:21915282 PMID:22132166 More...
RGD:6480217 , RGD:6480215
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282 PMID:22132166
RGD:6480217 , RGD:6480215
G
Edn3
endothelin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8630502 PMID:8630503 PMID:17516928
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
G
Ednrb
endothelin receptor type B
IAGP ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly
ClinVar RGD
PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30311386 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 PMID:21915282 More...
RGD:6480217
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282
RGD:6480217
G
Sox10
SRY-box transcription factor 10
ISO
DNA:missense mutations,insertion,deletion:cds:
RGD
PMID:9462749
RGD:12832744
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Ednrb
endothelin receptor type B
ISS ISO
OMIM:277580 ClinVar Annotator: match by term: Waardenburg syndrome type 4A
MouseDO OMIM ClinVar
PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10528251 PMID:10664228 PMID:10874640 PMID:11891690 PMID:14633923 PMID:16145050 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17554617 PMID:18162831 PMID:19320733 PMID:20009762 PMID:20127975 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29106856 PMID:29407415 PMID:30303587 PMID:30311386 PMID:30394532 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 More...
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar
PMID:25741868
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar
PMID:25741868
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Edn3
endothelin 3
ISO ISS
ClinVar Annotator: match by term: Waardenburg syndrome type 4B OMIM:613265 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
G
Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar
PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 PMID:21965087 PMID:24033266 PMID:25741868 PMID:25991456 PMID:27666373 PMID:28492532 PMID:29407415 PMID:30311386 PMID:33442024 PMID:33724713 PMID:34474183 PMID:34599368 PMID:36413997 PMID:38177409 More...
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Sox10
SRY-box transcription factor 10
ISO ISS
ClinVar Annotator: match by term: Waardenburg syndrome type 4C OMIM:613266 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 PMID:21965087 PMID:24033266 PMID:25741868 PMID:25991456 PMID:27666373 PMID:28492532 PMID:29407415 PMID:30311386 PMID:33442024 PMID:33724713 PMID:34474183 PMID:34599368 PMID:36413997 PMID:38177409 More...
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19100
disease of anatomical entity
18440
gastrointestinal system disease
7176
Digestive System Abnormalities
531
Hirschsprung's disease
194
Al Gazali Hirschsprung Syndrome
0
Bresheck/Bresek Syndrome
0
Cartilage Hair Hypoplasia Like Syndrome
0
Goldberg-Shprintzen syndrome
64
Hirschsprung Disease 1
12
Hirschsprung Disease Ganglioneuroblastoma
1
Hirschsprung Disease Polydactyly Heart Disease
0
Hirschsprung Disease Type 3
0
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
0
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
0
Hirschsprung Disease with Type D Brachydactyly
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
11
PCWH syndrome
3
Santos Mateus Leal Syndrome
0
Total Intestinal Aganglionosis
6
Waardenburg Syndrome Type 4 +
7
cartilage-hair hypoplasia
1
Path 2
disease
19100
disease of anatomical entity
18440
gastrointestinal system disease
7176
intestinal disease
3104
colonic disease
2322
megacolon
409
Hirschsprung's disease
194
Al Gazali Hirschsprung Syndrome
0
Bresheck/Bresek Syndrome
0
Cartilage Hair Hypoplasia Like Syndrome
0
Goldberg-Shprintzen syndrome
64
Hirschsprung Disease 1
12
Hirschsprung Disease Ganglioneuroblastoma
1
Hirschsprung Disease Polydactyly Heart Disease
0
Hirschsprung Disease Type 3
0
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
0
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
0
Hirschsprung Disease with Type D Brachydactyly
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
11
PCWH syndrome
3
Santos Mateus Leal Syndrome
0
Total Intestinal Aganglionosis
6
Waardenburg Syndrome Type 4 +
7
cartilage-hair hypoplasia
1