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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:visceral heterotaxy
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Accession:DOID:0050545 term browser browse the term
Definition:Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome.
Synonyms:exact_synonym: HETEROTAXIA SYNDROME;   Left Atrial Isomerism;   Left Atrial Isomerism with Polysplenia;   Left Atrial Isomerisms;   Polysplenia Syndrome;   Polysplenia Syndromes;   RAI;   Situs Ambiguus;   Situs Ambiguus Viscerum;   asplenia syndrome;   asplenia syndromes;   asplenia with cardiovascular anomalies;   bilateral right-sidedness sequence;   heterotaxia;   heterotaxy syndrome;   heterotaxy syndromes;   situs ambiguus viscerums;   situs ambiguus with asplenia;   situs ambiguus with polysplenia;   visceral heterotaxies
 narrow_synonym: HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE;   POLYASPLENIA;   VAH, autosomal recessive
 primary_id: MESH:D059446
 alt_id: OMIM:208530
 xref: GARD:10875;   OMIM:PS306955;   ORDO:450
For additional species annotation, visit the Alliance of Genome Resources.


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visceral heterotaxy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotaxy syndrome
CTD
ClinVar
PMID:9916847 NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Armc4 armadillo repeat containing 4 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Cep290 centrosomal protein 290 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Heterotaxy syndrome
ClinVar Annotator: match by term: Heterotaxia
ClinVar Annotator: match by term: Bilateral right-sidedness sequence
ClinVar Annotator: match by term: Asplenia syndrome
ClinVar PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:28492532 NCBI chr10:54,470,834...54,512,157
Ensembl chr10:54,470,835...54,512,169
JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Cplane2 ciliogenesis and planar polarity effector 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxh1 forkhead box H1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Heterotaxia ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Heterotaxia
ClinVar Annotator: match by term: Bilateral right-sidedness sequence
ClinVar Annotator: match by term: Asplenia syndrome
ClinVar Annotator: match by term: Heterotaxy syndrome
OMIM
ClinVar
PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:15162124, PMID:30311386 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Ift74 intraflagellar transport 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
JBrowse link
G LOC690352 hypothetical protein LOC690352 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:108,281,908...108,285,008
Ensembl chr14:108,281,907...108,285,008
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotaxy syndrome
CTD
ClinVar
PMID:24033266, PMID:26437028 NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Heterotaxy syndrome
ClinVar Annotator: match by term: heterotaxia syndrome
ClinVar PMID:8429908, PMID:8610013, PMID:9354794, PMID:11709181, PMID:16721152, PMID:19064609, PMID:19553149, PMID:19933292, PMID:22352765, PMID:25298693, PMID:25741868, PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:27616478 NCBI chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
JBrowse link
G Rfx3 regulatory factor X3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:245,853,332...246,110,648
Ensembl chr 1:245,859,633...246,110,218
JBrowse link
G Slit2 slit guidance ligand 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062482 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tmem67 transmembrane protein 67 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Wdr62 WD repeat domain 62 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
JBrowse link
G Zic3 Zic family member 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar
OMIM
PMID:2629409, PMID:3674105, PMID:9354794, PMID:10980576, PMID:14681828, PMID:17295247, PMID:17764085, PMID:18716025, PMID:23427188, PMID:23872418, PMID:24033266, PMID:24123890, PMID:25741868, PMID:26294094, PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:26531781 NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:30311386 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868, PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:28,574,841...28,611,959
Ensembl chr15:28,575,480...28,611,946
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Armc4 armadillo repeat containing 4 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086, PMID:23849778, PMID:24088041, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc114 coiled-coil domain containing 114 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Ccdc151 coiled-coil domain containing 151 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045, PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974, PMID:28492532, PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar PMID:24747639, PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400, PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621, PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040, PMID:22387996, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
PMID:19357118, PMID:19630565, PMID:23477994, PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
CTD
PMID:10577904, PMID:11231901, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:22416021, PMID:23477994, PMID:24033266, PMID:24498942, PMID:24912412, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390, PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24307375, PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039, PMID:8813877, PMID:25048963 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:26139845, PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779, PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057, PMID:24824133, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM
ClinVar
PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD
ClinVar
PMID:12632326, PMID:24697899, PMID:28492532 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nphp3 nephrocystin 3 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114, PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299, PMID:23418306, PMID:25741868, PMID:26697755, PMID:26862157, PMID:26967905, PMID:28492532 NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus
ClinVar Annotator: match by OMIM:615434
OMIM
ClinVar
PMID:23849777, PMID:27790702, PMID:28492532 NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
JBrowse link
right atrial isomerism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISS OMIM:208530 MouseDO NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:208530 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Gdf1 growth differentiation factor 1 ISS OMIM:208530 MouseDO NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Nodal nodal growth differentiation factor ISS OMIM:270100 MouseDO NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Visceral Heterotaxy 4, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa1a acetyl-CoA acyltransferase 1A ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,027,880...128,036,471
Ensembl chr 8:128,027,958...128,036,236
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar Annotator: match by OMIM:613751
OMIM
ClinVar
PMID:2049719, PMID:9916847, PMID:21864452, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,065,292...127,726,248
Ensembl chr 8:127,702,534...127,726,127
JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,788,919...127,835,986
Ensembl chr 8:127,789,048...127,834,637
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,133,398...128,153,110
Ensembl chr 8:128,133,431...128,153,110
JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,920,349...128,009,951
Ensembl chr 8:127,920,349...128,009,951
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Slc22a13 solute carrier family 22 member 13 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,885,268...127,900,829
Ensembl chr 8:127,885,268...127,900,463
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,858,425...127,871,192 JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:127,735,233...127,753,313
Ensembl chr 8:127,735,258...127,753,349
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:128,041,875...128,076,951
Ensembl chr 8:128,044,084...128,076,946
JBrowse link
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:31,055,292...31,072,469
Ensembl chr20:31,055,789...31,072,469
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar Annotator: match by OMIM:270100
OMIM
ClinVar
PMID:8429908, PMID:8610013, PMID:9354794, PMID:11709181, PMID:16721152, PMID:19064609, PMID:19553149, PMID:19933292, PMID:22352765, PMID:24033266, PMID:25298693, PMID:25741868, PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:30,938,901...30,983,907
Ensembl chr20:30,938,901...30,975,472
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
Visceral Heterotaxy 6, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by OMIM:614779
ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal
ClinVar
OMIM
PMID:22577226, PMID:25504577, PMID:25741868, PMID:28492532 NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
Visceral Heterotaxy 7, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp21 matrix metallopeptidase 21 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal ClinVar
OMIM
PMID:24033266, PMID:26437028 NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
JBrowse link
Visceral Heterotaxy 8, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 8, AUTOSOMAL ClinVar
OMIM
PMID:27616478 NCBI chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar
OMIM
PMID:30148830 NCBI chr 8:79,054,240...79,075,119
Ensembl chr 8:79,054,237...79,075,122
JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar PMID:30148830 NCBI chr 8:79,083,449...79,119,621
Ensembl chr 8:79,083,522...79,119,720
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    physical disorder 982
      visceral heterotaxy 94
        Congenital Heart Defects, Multiple Types, 1, X-Linked 1
        Laterality Defects, Autosomal Dominant 0
        Left-Right Axis Malformations 0
        Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
        Polyasplenia 0
        Visceral Heterotaxy 2, Autosomal 0
        Visceral Heterotaxy 3, Autosomal 0
        Visceral Heterotaxy 4, Autosomal 17
        Visceral Heterotaxy 5, Autosomal 4
        Visceral Heterotaxy 6, Autosomal 1
        Visceral Heterotaxy 7, Autosomal 1
        Visceral Heterotaxy 8, Autosomal 1
        Visceral Heterotaxy 9, Autosomal 2
        Visceroatrial Heterotaxy, Autosomal Recessive 0
        right atrial isomerism 3
        situs inversus + 53
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1128
            congenital heart disease 1073
              visceral heterotaxy 94
                Congenital Heart Defects, Multiple Types, 1, X-Linked 1
                Laterality Defects, Autosomal Dominant 0
                Left-Right Axis Malformations 0
                Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
                Polyasplenia 0
                Visceral Heterotaxy 2, Autosomal 0
                Visceral Heterotaxy 3, Autosomal 0
                Visceral Heterotaxy 4, Autosomal 17
                Visceral Heterotaxy 5, Autosomal 4
                Visceral Heterotaxy 6, Autosomal 1
                Visceral Heterotaxy 7, Autosomal 1
                Visceral Heterotaxy 8, Autosomal 1
                Visceral Heterotaxy 9, Autosomal 2
                Visceroatrial Heterotaxy, Autosomal Recessive 0
                right atrial isomerism 3
                situs inversus + 53
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.