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SIV
MCID: STS002
MIFTS: 45

Situs Inversus (SIV)

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Situs Inversus

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MalaCards integrated aliases for Situs Inversus:

Name: Situs Inversus 12 52 29 54 6 43 15 32
Situs Inversus Viscerum 12 52
Complete Transposition 12
Laterality Sequence 12
Siv 52

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:758
ICD9CM 34 759.3
MeSH 43 D012857
NCIt 49 C87121
SNOMED-CT 67 27317008
ICD10 32 Q89.3
UMLS 71 C0037221
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Summaries for Situs Inversus

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NIH Rare Diseases : 52 Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.

MalaCards based summary : Situs Inversus, also known as situs inversus viscerum, is related to dextrocardia with situs inversus and ciliary dyskinesia, primary, 9. An important gene associated with Situs Inversus is DNAH7 (Dynein Axonemal Heavy Chain 7), and among its related pathways/superpathways is Parkinson disease. The drugs Nitric Oxide and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are cellular and growth/size/body region

Wikipedia : 74 Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major... more...

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Related Diseases for Situs Inversus

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Diseases related to Situs Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 685)
# Related Disease Score Top Affiliating Genes
1 dextrocardia with situs inversus 34.1 DNAH9 DNAH7 CFAP53
2 ciliary dyskinesia, primary, 9 33.5 RSPH9 RSPH4A DNAI2 DNAAF2
3 ciliary dyskinesia, primary, 10 33.4 RSPH9 RSPH4A DNAI2 DNAAF2
4 ciliary dyskinesia, primary, 13 33.4 RSPH9 RSPH4A DNAAF2 CCDC40
5 right atrial isomerism 32.6 DNAI1 DNAH7 DNAH5 DNAH11
6 ciliary dyskinesia, primary, 4 32.6 DRC1 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
7 ciliary dyskinesia, primary, 6 32.5 RSPH9 RSPH4A DNAAF2
8 dextrocardia 32.2 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11 CFAP53
9 ciliary dyskinesia, primary, 8 31.8 DRC1 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
10 dextro-looped transposition of the great arteries 31.4 DNAI1 DNAH5 DNAH11
11 ciliary dyskinesia, primary, 1 31.3 RSPH9 RSPH4A DRC1 DNAI2 DNAI1 DNAH9
12 visceral heterotaxy 30.4 TTC25 RSPH9 RSPH4A INVS DRC1 DNAI2
13 kartagener syndrome 30.1 TTC25 RSPH9 RSPH4A INVS DRC1 DNAI2
14 bronchiectasis 29.6 RSPH9 RSPH4A DRC1 DNAI2 DNAI1 DNAH5
15 primary ciliary dyskinesia 29.6 TTC25 RSPH9 RSPH4A INVS DRC1 DNAI2
16 retinitis pigmentosa 28.8 RSPH9 LZTFL1 INVS DNAI1 DNAH5 DNAH11
17 retinitis pigmentosa 82 with or without situs inversus 12.8
18 hypoglossia with situs inversus 12.7
19 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.6
20 aglossia and situs inversus 12.5
21 marfanoid habitus with situs inversus 12.5
22 jeune syndrome situs inversus 12.4
23 chondrodysplasia situs inversus imperforate anus polydactyly 12.4
24 ciliary dyskinesia, primary, 7 12.4
25 ciliary dyskinesia, primary, 40 12.3
26 isolated levocardia 12.3
27 ciliary dyskinesia, primary, 29 12.3
28 agnathia-otocephaly complex 12.3
29 heterotaxy, visceral, 5, autosomal 12.3
30 ciliary dyskinesia, primary, 3 12.2
31 heterotaxy, visceral, 1, x-linked 12.2
32 ciliary dyskinesia, primary, 5 12.2
33 ciliary dyskinesia, primary, 18 12.2
34 ciliary dyskinesia, primary, 23 12.2
35 ciliary dyskinesia, primary, 16 12.1
36 ciliary dyskinesia, primary, 17 12.1
37 ciliary dyskinesia, primary, 19 12.1
38 ciliary dyskinesia, primary, 20 12.1
39 ciliary dyskinesia, primary, 25 12.1
40 ciliary dyskinesia, primary, 26 12.1
41 ciliary dyskinesia, primary, 27 12.1
42 ciliary dyskinesia, primary, 28 12.1
43 ciliary dyskinesia, primary, 35 12.1
44 levocardia 12.1
45 ciliary dyskinesia, primary, 2 12.1
46 ciliary dyskinesia, primary, 11 12.1
47 ciliary dyskinesia, primary, 12 12.1
48 ciliary dyskinesia, primary, 14 12.1
49 ciliary dyskinesia, primary, 15 12.1
50 ciliary dyskinesia, primary, 21 12.1

Graphical network of the top 20 diseases related to Situs Inversus:



Diseases related to Situs Inversus
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Symptoms & Phenotypes for Situs Inversus

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MGI Mouse Phenotypes related to Situs Inversus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ARL2BP CCDC151 CCDC39 CCDC40 CFAP53 DNAAF2
2 growth/size/body region MP:0005378 10.2 ARL2BP CCDC151 CCDC39 CCDC40 CFAP53 DNAAF2
3 cardiovascular system MP:0005385 10.17 CCDC151 CCDC39 CFAP53 DNAAF2 DNAAF3 DNAH11
4 mortality/aging MP:0010768 9.93 ARL2BP CCDC151 CCDC39 CCDC40 CFAP53 DNAAF2
5 craniofacial MP:0005382 9.85 CCDC151 CCDC39 DNAH11 DNAH5 DNAI1 DRC1
6 liver/biliary system MP:0005370 9.8 CCDC151 CCDC39 CFAP53 DNAAF3 DNAH11 DNAH5
7 nervous system MP:0003631 9.65 ARL2BP CCDC151 CCDC39 CCDC40 CFAP53 DNAAF2
8 respiratory system MP:0005388 9.44 CCDC151 CCDC39 CCDC40 CFAP53 DNAAF2 DNAAF3
Sources

Drugs & Therapeutics for Situs Inversus

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Drugs for Situs Inversus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
3 Respiratory System Agents Phase 3
4 Antioxidants Phase 3
5 Anti-Asthmatic Agents Phase 3
6 Protective Agents Phase 3
7 Endothelium-Dependent Relaxing Factors Phase 3
8 Bronchodilator Agents Phase 3
9 Neurotransmitter Agents Phase 3
10 Vasodilator Agents Phase 3
11 Phosphodiesterase Inhibitors Phase 3
12 Phosphodiesterase 5 Inhibitors Phase 3
13
Mechlorethamine Approved, Investigational 51-75-2 4033
14 3-Iodobenzylguanidine

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Recruiting NCT03661385 Phase 3 Nitric Oxide
2 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function - a Multi-center, Double-blind, Randomized, Placebo-controlled Clinical Trial - SERVE Trial Active, not recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
3 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Unknown status NCT03469843
4 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
5 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
6 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
7 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
8 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
9 Study of Adaptation of the Right Ventricle to Systemic Afterload Completed NCT02066506
10 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
11 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
12 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
13 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Recruiting NCT03833843
14 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Suspended NCT00807482

Search NIH Clinical Center for Situs Inversus

Cochrane evidence based reviews: situs inversus

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Genetic Tests for Situs Inversus

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Genetic tests related to Situs Inversus:

# Genetic test Affiliating Genes
1 Situs Inversus 29
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Anatomical Context for Situs Inversus

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MalaCards organs/tissues related to Situs Inversus:

40
Heart, Liver, Lung, Spleen, Kidney, Colon, Brain
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Publications for Situs Inversus

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Articles related to Situs Inversus:

(show top 50) (show all 2626)
# Title Authors PMID Year
1
Situs inversus in association with duodenal atresia. 61 52
24192475 2013
2
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 54 61
18218308 2008
3
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 61 54
12872123 2003
4
Cardiopulmonary malformations in the inv/inv mouse. 61 54
11331972 2001
5
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 61 54
11231901 2001
6
Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila. 61
32387369 2020
7
Technical Challenges in Lung Transplantation of Kartagener Syndrome Recipients: A Unique Team Experience With 12 Patients. 61
32299703 2020
8
Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. 61
32490514 2020
9
Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period. 61
32522973 2020
10
Acute cholecystitis and residual choledocholithiasis in a situs inversus patient, successful laparoscopic approach and ERCP a case report from Ecuador. 61
32426127 2020
11
Sperm defects in primary ciliary dyskinesia and related causes of male infertility. 61
31781811 2020
12
Roux-en-Y Gastric Bypass in Patient with Situs Inversus Totalis. 61
32212101 2020
13
Endoscopic Retrograde Cholangiopancretography for bile duct stones with residual cystic duct stones in patients with situs inversus totalis. 61
32037056 2020
14
A detailed pathway and termination of thoracic duct in a Japanese female cadaver with situs inversus totalis. 61
32077000 2020
15
Robotic right colectomy for cancer with intracorporeal hand-sewn anastomosis in a patient with situs inversus totalis - a video vignette. 61
32495482 2020
16
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. 61
32357925 2020
17
ST-Elevation Myocardial Infarction in a Patient Having Dextrocardia with Situs Inversus. 61
32359913 2020
18
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia. 61
32447765 2020
19
Gastrointestinal: Situs inversus totalis with esophageal cancer. 61
31770819 2020
20
Laparoscopic cholecystectomy in a patient with situs inversus totalis after videolaparoscopic sleeve-Case report. 61
32474376 2020
21
[Primary Ciliary Dyskinesia - Interdisciplinary Diagnostics and Therapy]. 61
32384558 2020
22
Living donor liver transplantation in situs inversus totalis with a patient-specific three-dimensional printed liver model. 61
32068328 2020
23
Robotic cholecystectomy in situs inversus totalis. 61
32386727 2020
24
The first report of renal oncocytoma in a patient with situs inversus totalis. 61
31948815 2020
25
Pulmonary mucoepidermoid carcinoma arising in a patient with Kartagener syndrome. 61
32299405 2020
26
Double lung transplantation for end-stage Kartagener syndrome: a case report and literature review. 61
32395296 2020
27
Successful Multi-vessel Percutaneous Coronary Intervention for Recent Myocardial Infarction in a Patient with Dextrocardia and Situs Inversus. 61
32506107 2020
28
Right paraesophageal hiatus hernia associated with complete situs inversus. 61
32354490 2020
29
Unusual Coexistence In Situs Inversus Totalis; Right Arcus Aorta, Variant Left Azygos Lobe, and Aberrant Left Subclavian Artery. 61
32340770 2020
30
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2020
31
Beta-sitosterol-induced Acute Pancreatitis: A Case Report and Review of the Literature. 61
32226701 2020
32
Left non-recurrent inferior laryngeal nerve in a patient with right-sided aortic arch and aberrant left subclavian artery. 61
32178945 2020
33
Stress cardiomyopathy in dextrocardia with situs inversus and anomalous coronary arteries. 61
32131905 2020
34
Clinical features and management of children with primary ciliary dyskinesia in England. 61
32156696 2020
35
Neonatal Assessment of Infants with Heterotaxy. 61
32000924 2020
36
Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre. 61
32188167 2020
37
Feasibility of novel transapical off pump beating heart mitral valve repair in a patient with dextrocardia and situs inversus. 61
32155238 2020
38
Successful biliary cannulation using a novel rotatable sphincterotome in a patient with situs inversus totalis. 61
32131093 2020
39
Comorbidities in situs inversus totalis: A hospital-based study. 61
31994846 2020
40
Left-right patterning in congenital heart disease beyond heterotaxy. 61
31999049 2020
41
Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease. 61
31583536 2020
42
The genetics of situs inversus without primary ciliary dyskinesia. 61
32111882 2020
43
Primary ciliary dyskinesia in the genomics age. 61
31624012 2020
44
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2020
45
Management of a child with primary ciliary dyskinesia. 61
32128223 2020
46
Transseptal Approach for Mitral Valve Replacement in Dextrocardia with Situs Inversus Totalis: A Case Report and Review of the Literature. 61
32118539 2020
47
Congenital heart defects: the 10-year experience at a single center. 61
29914284 2020
48
A Rare Case of a Left-sided Gallbladder Accompanied with an Aplastic Cystic Duct in a Patient with Acute Cholecystitis. 61
32071285 2020
49
Using Materialise's interactive medical image control system to reconstruct a model of a patient with rectal cancer and situs inversus totalis: A case report. 61
32149064 2020
50
Intraoperative Transesophageal Echocardiography in a Rare Case of Dextrocardia, Situs Inversus Totalis, and Double-Outlet Right Ventricle. 61
31850907 2020
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Variations for Situs Inversus

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ClinVar genetic disease variations for Situs Inversus:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)SNV Pathogenic 599649 rs770861172 2:196722306-196722306 2:195857582-195857582
2 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)SNV Benign 599650 rs114621989 2:196602773-196602773 2:195738049-195738049
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Expression for Situs Inversus

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Search GEO for disease gene expression data for Situs Inversus.
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Pathways for Situs Inversus

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Pathways related to Situs Inversus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parkinson disease 36
Show member pathways
 12.07 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
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GO Terms for Situs Inversus

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Cellular components related to Situs Inversus according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC25 RSPH9 RSPH4A LZTFL1 INVS DRC1
2 cytoskeleton GO:0005856 10.1 TTC25 RSPH9 RSPH4A INVS DRC1 DNAI2
3 microtubule GO:0005874 10.04 INVS DNAI2 DNAI1 DNAH9 DNAH7 DNAH5
4 motile cilium GO:0031514 9.98 RSPH9 RSPH4A DRC1 DNAH9 DNAH5 DNAH11
5 axoneme GO:0005930 9.9 RSPH9 RSPH4A DRC1 DNAI2 DNAH9 DNAH5
6 cilium GO:0005929 9.86 RSPH9 RSPH4A INVS DRC1 DNAI2 DNAI1
7 dynein complex GO:0030286 9.8 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
8 axonemal dynein complex GO:0005858 9.78 DRC1 DNAI2 DNAH7 DNAH5
9 outer dynein arm GO:0036157 9.77 DNAI2 DNAI1 DNAH9 DNAH5 CCDC103
10 9+2 motile cilium GO:0097729 9.71 RSPH9 DNAH9 DNAH5 DNAH11
11 cell projection GO:0042995 9.55 TTC25 RSPH9 RSPH4A INVS DRC1 DNAI2
12 radial spoke GO:0001534 9.51 RSPH9 RSPH4A

Biological processes related to Situs Inversus according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.01 RSPH9 RSPH4A DNAI2 DNAH5 CFAP53 CCDC40
2 cell projection organization GO:0030030 9.99 DNAI2 DNAI1 DNAH9 DNAAF3 CCDC151 CCDC103
3 heart development GO:0007507 9.97 DRC1 DNAI1 DNAH5 DNAH11 CCDC39
4 flagellated sperm motility GO:0030317 9.88 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
5 microtubule-based movement GO:0007018 9.88 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
6 motile cilium assembly GO:0044458 9.8 RSPH9 DNAAF3 CCDC40 CCDC39
7 heart looping GO:0001947 9.77 CCDC40 CCDC39 CCDC103
8 outer dynein arm assembly GO:0036158 9.77 DNAI2 DNAI1 DNAH5 CCDC151 CCDC103
9 inner dynein arm assembly GO:0036159 9.76 DNAH7 CCDC40 CCDC39 CCDC103
10 axoneme assembly GO:0035082 9.73 RSPH9 RSPH4A CCDC40
11 cilium-dependent cell motility GO:0060285 9.73 DRC1 DNAH7 DNAAF2 CCDC39
12 epithelial cilium movement GO:0003351 9.73 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39 CCDC103
13 determination of digestive tract left/right asymmetry GO:0071907 9.72 CCDC40 CCDC39 CCDC103
14 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.72 DNAH11 CFAP53 CCDC40 CCDC39 CCDC103
15 regulation of cilium beat frequency GO:0003356 9.7 DNAH11 CCDC40 CCDC39
16 axonemal dynein complex assembly GO:0070286 9.7 DRC1 DNAAF3 DNAAF2 CCDC40 CCDC39 CCDC151
17 determination of left/right symmetry GO:0007368 9.61 DRC1 DNAI2 DNAI1 DNAH5 DNAH11 CFAP53
18 cilium movement involved in cell motility GO:0060294 9.6 RSPH9 RSPH4A
19 determination of liver left/right asymmetry GO:0071910 9.58 CCDC40 CCDC39
20 determination of pancreatic left/right asymmetry GO:0035469 9.58 CCDC40 CCDC39
21 cilium movement GO:0003341 9.44 RSPH9 RSPH4A DNAI2 DNAI1 DNAH9 DNAH7

Molecular functions related to Situs Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.62 DNAH9 DNAH7 DNAH5 DNAH11
2 dynein light intermediate chain binding GO:0051959 9.56 DNAH9 DNAH7 DNAH5 DNAH11
3 microtubule motor activity GO:0003777 9.55 DNAI2 DNAH9 DNAH7 DNAH5 DNAH11
4 dynein heavy chain binding GO:0045504 9.4 DNAI2 DNAI1
5 dynein light chain binding GO:0045503 9.37 DNAI2 DNAI1
6 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.26 DNAH9 DNAH7 DNAH5 DNAH11
7 motor activity GO:0003774 9.1 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
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Sources for Situs Inversus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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