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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:situs inversus
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Accession:DOID:758 term browser browse the term
Definition:A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. (DO)
Synonyms:exact_synonym: complete transposition;   laterality sequence;   situs inversus totalis;   situs inversus viscerum
 primary_id: MESH:D012857
 xref: GARD:4883;   ICD10CM:Q89.3;   ICD9CM:759.3;   NCI:C87121
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Laterality sequence 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: Laterality sequence ClinVar NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 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: Laterality sequence 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: Laterality sequence 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: Laterality sequence ClinVar NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
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:16199547 PMID:25469542 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 Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:25741868 NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Laterality sequence 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: Laterality sequence ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 More... NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 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: Laterality sequence ClinVar NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Nme7 NME/NM23 family member 7 susceptibility ISO RGD PMID:20080492 RGD:155630601 NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Situs inversus ClinVar PMID:19064609 PMID:19553149 PMID:25741868 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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 Odad4 outer dynein arm docking complex subunit 4 ISO ClinVar Annotator: match by term: Laterality sequence ClinVar NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting susceptibility ISO ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus ClinVar
RGD
PMID:25741868 PMID:27616478 PMID:30664273 PMID:32111882 PMID:20080492 RGD:155630601 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...136,129,627
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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... 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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,430,677...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: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:136,123,662...136,129,627
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...136,129,627
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 C5h1orf127 similar to human chromosome 1 open reading frame 127 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS MouseDO NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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 PMID:28492532 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:23122589 PMID:23891469 PMID:24307375 PMID:26139845 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
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:22387996 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 PMID:28492532 PMID:32719396 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 Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO
ISS
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 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 MouseDO 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
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
MouseDO
ClinVar
PMID:23354437 PMID:25741868 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...101,570,370
Ensembl chr10:101,566,304...101,570,237
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 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 PMID:28492532 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 Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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:26228299 PMID:27637300 PMID:28492532 More... 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:26139845 PMID:28492532 More... 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
renal-hepatic-pancreatic dysplasia 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 ClinVar PMID:25741868 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 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
ISS
ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus
OMIM:615434
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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: Heterotaxy, visceral, 5, autosomal ClinVar PMID:12447384 PMID:18579681 PMID:28492532 NCBI chr20:29,379,444...29,400,110
Ensembl chr20:29,382,668...29,399,946
JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders
OMIM
CTD
ClinVar
PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 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: Heterotaxy, visceral, 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: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      visceral heterotaxy 111
        situs inversus 68
          Fraser Jequier Chen Syndrome 0
          Hypoglossia with Situs Inversus 0
          Jeune Syndrome Situs Inversus 0
          Levocardia 0
          Marfanoid Habitus with Situs Inversus 0
          Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
          Visceral Heterotaxy 5, Autosomal 4
          dextrocardia + 47
          renal-hepatic-pancreatic dysplasia + 2
          retinitis pigmentosa with or without situs inversus 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          lymphatic system disease 1667
            splenic disease 155
              visceral heterotaxy 111
                situs inversus 68
                  Fraser Jequier Chen Syndrome 0
                  Hypoglossia with Situs Inversus 0
                  Jeune Syndrome Situs Inversus 0
                  Levocardia 0
                  Marfanoid Habitus with Situs Inversus 0
                  Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
                  Visceral Heterotaxy 5, Autosomal 4
                  dextrocardia + 47
                  renal-hepatic-pancreatic dysplasia + 2
                  retinitis pigmentosa with or without situs inversus 1
paths to the root