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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;   Left Atrial Isomerisms;   Polysplenia Syndrome;   Polysplenia Syndromes;   RAI;   Situs Ambiguus;   asplenia syndrome;   asplenia syndromes;   asplenia with cardiovascular anomalies;   bilateral right-sidedness sequence;   heterotaxia;   heterotaxia syndrome;   heterotaxy syndrome;   heterotaxy syndromes;   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
 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.



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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Visceral heterotaxy
CTD
ClinVar
PMID:9916847 NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
JBrowse link
G C14h2orf74 similar to human chromosome 2 open reading frame 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
ClinVar Annotator: match by term: Situs ambiguus
MouseDO
ClinVar
PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Cep290 centrosomal protein 290 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:17924340 PMID:20413652 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
DNA:missense mutation:exon:334C>T (p.R112C)(human)
MouseDO
RGD
PMID:10574770 PMID:11062482 RGD:155226882, RGD:155226879 NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
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 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
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 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS
ISO
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:25741868 PMID:26228299 More... NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxh1 forkhead box H1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy OMIM
ClinVar
PMID:17924340 PMID:20413652 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Ift74 intraflagellar transport 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Visceral heterotaxy
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:26437028 NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Visceral heterotaxy ClinVar PMID:19064609 PMID:25741868 PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Odad4 outer dynein arm docking complex subunit 4 ISO ClinVar Annotator: match by term: Situs ambiguus ClinVar NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy ClinVar NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
JBrowse link
G Psme4 proteasome activator subunit 4 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:104,505,716...104,609,410
Ensembl chr14:104,505,716...104,609,408
JBrowse link
G Rfx3 regulatory factor X3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402
JBrowse link
G Slit2 slit guidance ligand 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062482 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
G Tmem67 transmembrane protein 67 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Zic3 Zic family member 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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 Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia OMIM
ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
dextrocardia 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 term: Dextrocardia ClinVar PMID:26531781 NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:21131974 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24747639 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31879361 More... NCBI chr 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD
PMID:12142464 RGD:734893 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
RGD
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:18950741 PMID:28492532 NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,249
Ensembl chr10:101,566,304...101,570,237
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 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 PMID:28492532 NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:25192045 PMID:25224326 PMID:25741868 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:28492532 PMID:30067075 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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 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 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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:9536098 PMID:12872122 PMID:17576681 PMID:17855640 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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:25741876 PMID:26697755 More... NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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 with or without situs inversus OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23849777 PMID:27790702 PMID:28492532 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:208530 MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:25741868 PMID:28492532 PMID:33139725 NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Situs inversus ClinVar PMID:27616478 NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
Visceral Heterotaxy 10, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility OMIM
ClinVar
PMID:25469542 PMID:25741868 PMID:33139725 NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
JBrowse link
Visceral Heterotaxy 11, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility OMIM
ClinVar
PMID:33139725 NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
JBrowse link
Visceral Heterotaxy 12, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal OMIM
ClinVar
NCBI chr15:28,151,022...28,158,482
Ensembl chr15:28,151,019...28,158,129
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 8:119,079,401...119,088,624
Ensembl chr 8:119,079,775...119,088,624
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal OMIM
ClinVar
PMID:2049719 PMID:9536098 PMID:9916847 PMID:17576681 PMID:21864452 More... NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,642,729...118,767,238
Ensembl chr 8:118,642,672...118,767,117
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 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
JBrowse link
G Epm2aip1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:111,233,871...111,241,219
Ensembl chr 8:111,233,826...111,241,871
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672
JBrowse link
G Golga4 golgin A4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,208,200...118,285,003 JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:111,091,453...111,193,947
Ensembl chr 8:111,091,503...111,193,255
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
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 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Slc22a13l1 solute carrier family 22 member 13-like 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,958,209...118,972,614
Ensembl chr 8:118,961,000...118,966,046
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 8:118,894,537...118,916,446
Ensembl chr 8:118,895,259...118,908,255
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,776,718...118,794,983
Ensembl chr 8:118,776,742...118,794,983
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848
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:12447384 PMID:18579681 PMID:28492532 NCBI chr20:29,379,444...29,400,131
Ensembl chr20:29,382,668...29,399,946
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: NODAL-Related Disorders | ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal OMIM
ClinVar
PMID:9354794 PMID:12447384 PMID:18579681 PMID:19064609 PMID:19553149 More... NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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 term: Heterotaxy, visceral, 6, autosomal OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 More... NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
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 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26437028 NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
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 OMIM
ClinVar
PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:31026592 More... NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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 OMIM
ClinVar
PMID:28492532 PMID:30148830 PMID:31534215 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility ClinVar PMID:28492532 PMID:30148830 PMID:31534215 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      visceral heterotaxy 113
        Congenital Heart Defects, Multiple Types, 1, X-Linked 12
        Laterality Defects, Autosomal Dominant 0
        Left-Right Axis Malformations 0
        Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
        Polyasplenia 0
        Visceral Heterotaxy 10, Autosomal 1
        Visceral Heterotaxy 11, Autosomal 1
        Visceral Heterotaxy 12, Autosomal 1
        Visceral Heterotaxy 2, Autosomal 0
        Visceral Heterotaxy 3, Autosomal 0
        Visceral Heterotaxy 4, Autosomal 21
        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 4
        situs inversus + 64
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Cardiovascular Abnormalities 1260
            congenital heart disease 1198
              visceral heterotaxy 113
                Congenital Heart Defects, Multiple Types, 1, X-Linked 12
                Laterality Defects, Autosomal Dominant 0
                Left-Right Axis Malformations 0
                Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
                Polyasplenia 0
                Visceral Heterotaxy 10, Autosomal 1
                Visceral Heterotaxy 11, Autosomal 1
                Visceral Heterotaxy 12, Autosomal 1
                Visceral Heterotaxy 2, Autosomal 0
                Visceral Heterotaxy 3, Autosomal 0
                Visceral Heterotaxy 4, Autosomal 21
                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 4
                situs inversus + 64
paths to the root