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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:A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)
Synonyms:exact_synonym: Left Atrial Isomerism;   Left Atrial Isomerism with Polysplenia;   Polysplenia Syndrome;   Polysplenia Syndromes;   RAI;   asplenia syndrome;   asplenia syndromes;   asplenia with cardiovascular anomalies;   bilateral right-sidedness sequence;   heterotaxia;   heterotaxia syndrome;   heterotaxy syndrome;   heterotaxy syndromes;   left atrial isomerisms;   situs ambiguus;   situs ambiguus viscerum;   situs ambiguus viscerums;   situs ambiguus with asplenia;   situs ambiguus with polysplenia;   visceral heterotaxies
 narrow_synonym: HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE;   POLYASPLENIA;   VAH, autosomal recessive
 broad_synonym: GDF1-RELATED CONDITION;   GDF1-RELATED DISORDERS
 primary_id: MESH:D059446
 xref: EFO:0009081;   GARD:10875;   MIM:PS306955;   ORDO:450


show annotations for term's descendants           Sort by:
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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Visceral heterotaxy
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779		 CTD
ClinVar
MouseDO		 PMID:9916847 PMID:25741868 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		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 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		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 chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583 		JBrowse link
G BICC1 BicC family RNA binding protein 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435 		JBrowse link
G C2orf74 chromosome 2 open reading frame 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:61,145,116...61,164,828
Ensembl chr 2:61,145,068...61,164,828 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISS
IAGP		 OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
ClinVar Annotator: match by term: Situs ambiguus		 MouseDO
ClinVar		 PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
G CEP290 centrosomal protein 290 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: GDF1-related condition
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar Annotator: match by term: Situs ambiguus		 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP298-TCP10L CFAP298-TCP10L readthrough IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr21:32,563,492...32,612,377
Ensembl chr21:32,402,511...32,612,865 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP46 cilia and flagella associated protein 46 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr10:132,808,392...132,942,570
Ensembl chr10:132,808,392...132,942,823 		JBrowse link
G CFAP53 cilia and flagella associated protein 53 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:25741868 NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISS
IAGP
ISO		 OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
DNA:CNVs::2q21.1 (human)
DNA:missense mutation:exon:334C>T (p.R112C)(human)		 MouseDO
RGD		 PMID:25423076 PMID:10574770 PMID:11062482 RGD:155226881, RGD:155226882, RGD:155226879 NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G CIROZ ciliated left-right organizer protein containing ZP-N domains ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:10,946,475...10,982,076
Ensembl chr 1:10,946,471...10,982,076 		JBrowse link
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:16,231,692...16,237,183
Ensembl chr 1:16,231,692...16,237,183 		JBrowse link
G CRIPTO cripto, EGF-CFC family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:11062482 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:25741868 PMID:36316122 NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		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 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 More... NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 More... NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISS
IAGP		 OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
ClinVar Annotator: match by term: Situs ambiguus		 MouseDO
ClinVar		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 More... NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr 2:84,459,572...84,819,589
Ensembl chr 2:84,516,455...84,819,589 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FOXH1 forkhead box H1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar Annotator: match by term: GDF1-related condition
ClinVar Annotator: match by term: Situs ambiguus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G IFT74 intraflagellar transport 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G LEFTY2 left-right determination factor 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Visceral heterotaxy		 CTD
ClinVar		 PMID:10053005 NCBI chr 1:225,936,603...225,941,220
Ensembl chr 1:225,936,598...225,941,383 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MMP21 matrix metallopeptidase 21 EXP
ISS
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
ClinVar Annotator: match by term: Visceral heterotaxy		 CTD
MouseDO
ClinVar		 PMID:24033266 PMID:25741868 PMID:26437028 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		JBrowse link
G NODAL nodal growth differentiation factor IAGP ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:19064609 PMID:25741868 PMID:28492532 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Situs ambiguus
ClinVar Annotator: match by term: Visceral heterotaxy		 ClinVar PMID:33655537 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466 		JBrowse link
G PSME4 proteasome activator subunit 4 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:53,864,069...53,970,993
Ensembl chr 2:53,864,069...53,970,993 		JBrowse link
G RFX3 regulatory factor X3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:3,218,297...3,526,001
Ensembl chr 9:3,218,297...3,526,004 		JBrowse link
G SLIT2 slit guidance ligand 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		JBrowse link
G TMEM67 transmembrane protein 67 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G UPF1 UPF1 RNA helicase and ATPase IAGP ClinVar Annotator: match by term: GDF1-related condition ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,831,959...18,868,230
Ensembl chr19:18,831,959...18,868,230 		JBrowse link
G ZIC3 Zic family member 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Laterality Defects, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTPS2 CTP synthase 2 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr  X:16,587,999...16,712,910
Ensembl chr  X:16,587,999...16,712,936 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar PMID:18022865 PMID:20513915 PMID:22184204 PMID:28492532 PMID:31040315 More... NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G RNF128 ring finger protein 128 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr  X:106,693,838...106,797,016
Ensembl chr  X:106,693,794...106,797,016 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar PMID:28492532 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
G SMC6 structural maintenance of chromosomes 6 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr 2:17,663,812...17,753,810
Ensembl chr 2:17,663,812...17,800,242 		JBrowse link
G SYTL5 synaptotagmin like 5 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr  X:37,888,915...38,128,820
Ensembl chr  X:38,006,553...38,128,819 		JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP ClinVar Annotator: match by term: Laterality defects, autosomal dominant ClinVar NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728 		JBrowse link
Left-Right Axis Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP DNA:missense mutation:exon 2:R40H (human)
DNA:missense mutation:cds:p.R383C (human)
DNA:missense mutation:exon 2:c.119G>A,p.R40H (human)		 RGD PMID:9916847 PMID:30622330 PMID:21864452 RGD:329849115, RGD:329853750, RGD:329849116 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G LEFTY2 left-right determination factor 2 IAGP ClinVar Annotator: match by term: Left-right axis malformations ClinVar PMID:10053005 PMID:25741868 PMID:28492532 NCBI chr 1:225,936,603...225,941,220
Ensembl chr 1:225,936,598...225,941,383 		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 EXP
IAGP		 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 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		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 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISS OMIM:208530 MouseDO NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP ClinVar Annotator: match by term: Right atrial isomerism ClinVar
OMIM		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G UPF1 UPF1 RNA helicase and ATPase IAGP ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr19:18,831,959...18,868,230
Ensembl chr19:18,831,959...18,868,230 		JBrowse link
visceral heterotaxy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,300,963...136,416,890
Ensembl chr  X:136,300,963...136,416,890 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G BRS3 bombesin receptor subtype 3 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,487,947...136,493,780
Ensembl chr  X:136,487,947...136,493,780 		JBrowse link
G CD40LG CD40 ligand IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,497,229...136,512,346
Ensembl chr  X:136,497,079...136,512,346 		JBrowse link
G MAP7D3 MAP7 domain containing 3 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,213,220...136,256,482
Ensembl chr  X:136,213,220...136,256,482 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G VGLL1 vestigial like family member 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,532,215...136,556,799
Ensembl chr  X:136,532,215...136,556,807 		JBrowse link
G ZIC3 Zic family member 3 IAGP
EXP		 ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked		 ClinVar
CTD
OMIM		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
visceral heterotaxy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP52 cilia and flagella associated protein 52 IAGP ClinVar Annotator: match by term: CFAP52-related condition
ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility		 OMIM
ClinVar		 PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		JBrowse link
visceral heterotaxy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP45 cilia and flagella associated protein 45 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility OMIM
ClinVar		 PMID:33139725 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165 		JBrowse link
visceral heterotaxy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROP ciliated left-right organizer metallopeptidase IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal OMIM
ClinVar		 PMID:25741868 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989 		JBrowse link
visceral heterotaxy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 13, AUTOSOMAL OMIM
ClinVar		 PMID:25741868 PMID:36316122 NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		JBrowse link
visceral heterotaxy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROZ ciliated left-right organizer protein containing ZP-N domains IAGP OMIM NCBI chr 1:10,946,475...10,982,076
Ensembl chr 1:10,946,471...10,982,076 		JBrowse link
visceral heterotaxy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFC1 cryptic, EGF-CFC family member 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 2, autosomal ClinVar
OMIM		 PMID:11062482 PMID:11799476 PMID:25741868 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575 		JBrowse link
visceral heterotaxy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA1 acetyl-CoA acyltransferase 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,122,715...38,137,127
Ensembl chr 3:38,103,129...38,137,242 		JBrowse link
G ACVR2B activin A receptor type 2B IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal OMIM
ClinVar		 PMID:2049719 PMID:9536098 PMID:9916847 PMID:16199547 PMID:17576681 More... NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G ACVR2B-AS1 ACVR2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,451,027...38,454,820
Ensembl chr 3:38,451,027...38,454,820 		JBrowse link
G APRG1 APRG1 tumor suppressor candidate IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,381,077...37,435,497
Ensembl chr 3:37,381,062...37,440,186 		JBrowse link
G CTDSPL CTD small phosphatase like IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,861,880...37,984,469
Ensembl chr 3:37,861,880...37,984,469 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025 		JBrowse link
G EPM2AIP1 EPM2A interacting protein 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:36,985,043...36,993,131
Ensembl chr 3:36,985,043...36,993,131 		JBrowse link
G EXOG exo/endonuclease G IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,496,340...38,526,303
Ensembl chr 3:38,496,127...38,542,161 		JBrowse link
G GOLGA4 golgin A4 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,243,271...37,366,879
Ensembl chr 3:37,243,191...37,366,879 		JBrowse link
G ITGA9 integrin subunit alpha 9 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,452,141...37,823,507
Ensembl chr 3:37,452,115...37,823,507 		JBrowse link
G LOC129936486 ATAC-STARR-seq lymphoblastoid silent region 14212 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,454,290...38,454,569 JBrowse link
G LRRFIP2 LRR binding FLII interacting protein 2 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,052,626...37,176,360
Ensembl chr 3:37,052,626...37,183,689 		JBrowse link
G MIR26A1 microRNA 26a-1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,969,404...37,969,480
Ensembl chr 3:37,969,404...37,969,480 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G OXSR1 oxidative stress responsive kinase 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,164,063...38,255,484
Ensembl chr 3:38,165,089...38,255,484 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:25741868 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PLCD1 phospholipase C delta 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SLC22A13 solute carrier family 22 member 13 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,265,812...38,278,757
Ensembl chr 3:38,265,812...38,278,757 		JBrowse link
G SLC22A14 solute carrier family 22 member 14 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,278,832...38,318,575
Ensembl chr 3:38,282,294...38,318,575 		JBrowse link
G VILL villin like IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:37,987,978...38,007,185
Ensembl chr 3:37,988,059...38,007,188 		JBrowse link
G XYLB xylulokinase IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 3:38,346,785...38,453,041
Ensembl chr 3:38,346,760...38,421,348 		JBrowse link
visceral heterotaxy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP298-TCP10L CFAP298-TCP10L readthrough IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr21:32,563,492...32,612,377
Ensembl chr21:32,402,511...32,612,865 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP46 cilia and flagella associated protein 46 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr10:132,808,392...132,942,570
Ensembl chr10:132,808,392...132,942,823 		JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP ClinVar Annotator: match by term: Situs inversus
ClinVar Annotator: match by term: Situs inversus totalis		 ClinVar PMID:16199547 PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		JBrowse link
G CFAP53 cilia and flagella associated protein 53 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:25741868 NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:25741868 PMID:36316122 NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 More... NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 More... NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 More... NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr 2:84,459,572...84,819,589
Ensembl chr 2:84,516,455...84,819,589 		JBrowse link
G EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:12447384 PMID:18579681 PMID:28492532 NCBI chr10:70,404,145...70,428,618
Ensembl chr10:70,404,145...70,428,618 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G NME7 NME/NM23 family member 7 susceptibility ISO RGD PMID:20080492 RGD:155630601 NCBI chr 1:169,132,531...169,367,797
Ensembl chr 1:169,132,531...169,367,948 		JBrowse link
G NODAL nodal growth differentiation factor IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related disorder
ClinVar Annotator: match by term: Situs inversus		 OMIM
ClinVar		 PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 More... NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NPHP3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chr10:70,458,485...70,568,450
Ensembl chr10:70,478,767...70,668,754 		JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Laterality sequence
ClinVar Annotator: match by term: Situs inversus		 ClinVar
RGD		 PMID:20080492 PMID:25741868 PMID:27272319 PMID:27616478 PMID:30664273 More... RGD:155630601 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466 		JBrowse link
G PKD1L1-AS1 PKD1L1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Situs inversus ClinVar PMID:20080492 PMID:25741868 PMID:27272319 PMID:27616478 PMID:33655537 NCBI chr 7:47,795,291...47,819,847
Ensembl chr 7:47,795,291...47,819,847 		JBrowse link
G PRF1 perforin 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G ZIC3 Zic family member 3 IAGP X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
visceral heterotaxy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP53 cilia and flagella associated protein 53 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22577226 PMID:25504577 More... NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495 		JBrowse link
visceral heterotaxy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP21 matrix metallopeptidase 21 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26429889 PMID:26437028 PMID:26437029 More... NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		JBrowse link
visceral heterotaxy 8 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 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:30791085 More... NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466 		JBrowse link
G PKD1L1-AS1 PKD1L1 antisense RNA 1 IAGP ClinVar Annotator: match by term: PKD1L1-related condition
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition		 ClinVar PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:30791085 More... NCBI chr 7:47,795,291...47,819,847
Ensembl chr 7:47,795,291...47,819,847 		JBrowse link
visceral heterotaxy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MNS1 meiosis specific nuclear structural 1 IAGP ClinVar Annotator: match by term: MNS1-related condition
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215 NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137 		JBrowse link
G TEX9 testis expressed 9 IAGP ClinVar Annotator: match by term: MNS1-related condition
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility		 ClinVar PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215 NCBI chr15:56,243,973...56,460,010
Ensembl chr15:56,243,971...56,445,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    syndrome 38717
      visceral heterotaxy 105
        Fraser Jequier Chen Syndrome 0
        Laterality Defects, Autosomal Dominant 9
        Left-Right Axis Malformations 2
        Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
        Polyasplenia 0
        Visceroatrial Heterotaxy, Autosomal Recessive 0
        right atrial isomerism 5
        visceral heterotaxy 1 12
        visceral heterotaxy 10 1
        visceral heterotaxy 11 1
        visceral heterotaxy 12 1
        visceral heterotaxy 13 1
        visceral heterotaxy 14 1
        visceral heterotaxy 2 1
        visceral heterotaxy 3 0
        visceral heterotaxy 4 25
        visceral heterotaxy 5 + 28
        visceral heterotaxy 6 1
        visceral heterotaxy 7 1
        visceral heterotaxy 8 2
        visceral heterotaxy 9 2
Path 2
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  disease 145369
    Developmental Disease 48798
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42864
        Congenital Abnormalities 16630
          Cardiovascular Abnormalities 2349
            congenital heart disease 2129
              visceral heterotaxy 105
                Fraser Jequier Chen Syndrome 0
                Laterality Defects, Autosomal Dominant 9
                Left-Right Axis Malformations 2
                Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
                Polyasplenia 0
                Visceroatrial Heterotaxy, Autosomal Recessive 0
                right atrial isomerism 5
                visceral heterotaxy 1 12
                visceral heterotaxy 10 1
                visceral heterotaxy 11 1
                visceral heterotaxy 12 1
                visceral heterotaxy 13 1
                visceral heterotaxy 14 1
                visceral heterotaxy 2 1
                visceral heterotaxy 3 0
                visceral heterotaxy 4 25
                visceral heterotaxy 5 + 28
                visceral heterotaxy 6 1
                visceral heterotaxy 7 1
                visceral heterotaxy 8 2
                visceral heterotaxy 9 2
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