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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:intestinal obstruction
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Accession:DOID:8437 term browser browse the term
Definition:Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL.
Synonyms:exact_synonym: Intestinal Obstructions
 primary_id: MESH:D007415
 xref: ICD10CM:K56.60;   ICD10CM:K56.609;   ICD10CM:K56.69;   ICD9CM:560.9;   NCI:C9175
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
intestinal obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:22960657 PMID:24777424 PMID:25741868 PMID:29781137 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum RGD PMID:19377777 RGD:2311052 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:colon RGD PMID:23826144 RGD:41404691 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:colon RGD PMID:21051526 RGD:5135055 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal | ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgo1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia		 OMIM
CTD
ClinVar		 PMID:25282101 PMID:25741868 NCBI chr 9:6,672,109...6,687,908
Ensembl chr 9:6,672,123...6,687,805 		JBrowse link
cystic fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:20203292 RGD:5129107 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms (human) RGD PMID:20203292 PMID:17502834 RGD:5129107, RGD:4145099 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO protein:increased expression:bronchus RGD PMID:20203292 RGD:5129107 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) RGD PMID:21993476 PMID:24127697 RGD:6767553, RGD:8695959 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO mRNA,protein:decreased expression:intestine: RGD PMID:21970994 RGD:14349050 NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16622660 RGD:6483578 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G C5 complement C5 severity ISO RGD PMID:3540828 RGD:5130162 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:paranasal sinus RGD PMID:17999785 RGD:4145455 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:neutrophil RGD PMID:18026571 RGD:4145491 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20438838 RGD:4143275 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639 PMID:19386685 RGD:5130907, RGD:5130902 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd14 CD14 molecule susceptibility ISO protein:increased expression:Macrophages, Alveolar
DNA:polymorphism:promoter:c. -159 C>T		 RGD PMID:20302606 PMID:19466271 RGD:4144794, RGD:4144796 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood RGD PMID:15102009 RGD:7248443 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cftr CF transmembrane conductance regulator severity
no_association
disease_progression		 ISO
ISS
IMP		 DNA:missense mutation:exon:p.W1282X(human)
ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
OMIM:219700
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,substitutions:exon:
DNA:mutation:exon:p.R117H(human)
DNA:nonsense mutation:cds;c. 2143delT (human)
DNA:mutation:cds:p.G551D (mouse)
DNA:insertion:exon:c.3904_3905insT (human)
DNA:mutations:multiple
DNA:mutation: :p.N1303K (human)
DNA:splice-site mutation:intron: 3272-26A>G (human)
DNA:mutations: :
DNA:deletion:exon:p.F508del(mouse)
DNA:missense mutations: :p.F508C, S1251N
DNA:missende mutation:exon:p.G551D (human)
protein:altered expression:lung		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:754013 PMID:1282016 PMID:1282900 PMID:1283148 PMID:1283149 More... RGD:4140436, RGD:126928119, RGD:11566051, RGD:734772, RGD:4140394, RGD:4140393, RGD:4140439, RGD:4140481, RGD:4140401, RGD:4140392, RGD:4140429, RGD:4140440, RGD:4140450, RGD:4140464, RGD:4140428, RGD:4140465, RGD:4140438, RGD:4140442, RGD:4140422, RGD:4139910, RGD:4140435 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
G Clca1 chloride channel accessory 1 ISO mRNA, protein:increased expression:respiratory system mucosa RGD PMID:15218996 RGD:4145657 NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 IDA RGD PMID:8811102 RGD:704390 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Cpa1 carboxypeptidase A1 ISO ClinVar Annotator: match by term: Mucoviscidosis ClinVar PMID:23955596 PMID:25741868 PMID:28492532 NCBI chr 4:59,257,417...59,263,544
Ensembl chr 4:59,257,417...59,263,544 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19293384 RGD:5133738 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum		 RGD PMID:20818377 PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum		 RGD PMID:20818377 PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:20818377 RGD:5135034 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 severity ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dctn4 dynactin subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772370 NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9843998 RGD:4892267 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665 		JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9843998 RGD:4892267 NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:sputum (human) RGD PMID:10445603 RGD:4145062 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eng endoglin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30806029 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Mucoviscidosis ClinVar PMID:7516776 PMID:9288046 PMID:12704386 PMID:17532303 PMID:19017876 More... NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:18685642 RGD:12903971 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:10567629 RGD:12904024 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More... NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO RGD PMID:16690975 RGD:5134682 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association
severity		 ISO DNA:deletion:: (human)
DNA:deletion: : (human)
DNA:deletion, haplotype:: (human)		 RGD PMID:24593045 PMID:22407040 PMID:10195071 PMID:20140303 PMID:23758905 RGD:10401929, RGD:14700942, RGD:12798506, RGD:12792246, RGD:12792207 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:15115915 RGD:5135040 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:15115915 RGD:5135040 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity
no_association		 ISO DNA:deletion, haplotype:: (human)
DNA:deletion: : (human)
DNA:deletion:: (human)		 RGD PMID:23758905 PMID:22407040 PMID:20140303 PMID:24593045 RGD:12792207, RGD:14700942, RGD:12792246, RGD:10401929 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21263071 RGD:5135530 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
G Hfe homeostatic iron regulator severity ISO DNA:missense mutations: :p.H63D, p.C282Y (human)
ClinVar Annotator: match by term: Cystic fibrosis		 ClinVar
RGD		 PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 More... RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:protein:increased expression:lung RGD PMID:15184199 RGD:4145410 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A severity ISO DNA:polymorphism, haplotype: :1267A>G (human) RGD PMID:21993476 PMID:21993476 RGD:6767553, RGD:6767553 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:respiratory tract epithelium (rat) RGD PMID:22461702 RGD:12904899 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:15310308 RGD:12743589 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:bronchoalveolar lavage fluid RGD PMID:15463872 RGD:4312589 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum
protein:increased expression:lung		 RGD PMID:19342416 PMID:21109552 RGD:4889105, RGD:4889130 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Il1a interleukin 1 alpha severity ISO protein:increased expression:serum RGD PMID:8333775 RGD:4142849 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNPs: :rs1143634, rs1143639 (human)
protein:increased expression:sputum		 RGD PMID:19431193 PMID:10515411 RGD:4142844, RGD:4143181 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:sputum
protein:decreased expression:blood, neutrophil		 RGD PMID:10515411 PMID:12547728 RGD:4143181, RGD:4143175 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:blood
protein:increased expression:lung		 RGD PMID:16403491 PMID:20438838 RGD:5128672, RGD:4143275 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il9 interleukin 9 ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895 		JBrowse link
G Il9r interleukin 9 receptor ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990 		JBrowse link
G Irf1 interferon regulatory factor 1 ISO protein:decreased expression:intestine epithelium, nasal cavity epithelium RGD PMID:10930443 RGD:5128720 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166 		JBrowse link
G Lep leptin severity ISO RGD PMID:18353734 RGD:5128819 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphism, haplotype: :252A>G (human) RGD PMID:21993476 RGD:6767553 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO protein:decreased secretion:serum (human)
ClinVar Annotator: match by term: Cystic fibrosis
DNA:polymorphisms:5' utr, exon:multiple (human)		 ClinVar
RGD		 PMID:7707811 PMID:8206524 PMID:10071515 PMID:10449435 PMID:15674393 More... RGD:4889443, RGD:4889447 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mif macrophage migration inhibitory factor severity ISO DNA:repeats:promoter RGD PMID:16179637 RGD:4891053 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:27689251 RGD:25671378 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:bronchoalveolar lavage fluid
protein:increased expression:serum		 RGD PMID:17526676 PMID:25545245 RGD:5130723, RGD:13204794 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase severity ISO DNA:polymorphism:promoter:-463G>A (human) RGD PMID:20954832 PMID:16883063 RGD:5130986, RGD:5130968 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum (human) RGD PMID:19960788 RGD:5131272 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:9155717 RGD:5131426 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:17255563 RGD:5131191 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:altered glycosylation:saliva RGD PMID:17255563 PMID:11845304 RGD:5131191, RGD:5131194 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO RGD PMID:20309575 RGD:7364748 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO protein:increased oxidation:colonic epithelium, mitochondrion (mouse) RGD PMID:21518732 RGD:6484688 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Nos1 nitric oxide synthase 1 disease_progression ISO mRNA:decreased expression:lung
DNA:repeats:5'utr		 RGD PMID:12064512 PMID:14760158 PMID:11890749 RGD:5132865, RGD:5132627, RGD:5132868 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA,protein:decreased expression:respiratory mucosa RGD PMID:16517573 RGD:4891958 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:polymorphism:exon: c. 894G>T (human) RGD PMID:12406848 RGD:4892049 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:25741868 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human) RGD PMID:16875506 RGD:5683626 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:plasma RGD PMID:8625754 RGD:1599967 NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO RGD PMID:18334635 RGD:5135022 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO DNA:SNPs: :-765G>C and 8473T>C (human)
protein:increased expression:nasal mucosa		 RGD PMID:20720307 PMID:18711055 RGD:5135298, RGD:5135523 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptx3 pentraxin 3 susceptibility ISO DNA:SNP:exon:rs35948036(human) RGD PMID:20927127 RGD:35673347 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323 		JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO mRNA:decreased expression::decreased clearance of pathogens? RGD PMID:20044437 RGD:5144066 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077107 PMID:19462466 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207733 PMID:16463024 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:6093867 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N severity ISO RGD PMID:11120905 RGD:5147439 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B ISO mRNA:increased expression:respiratory system mucosa RGD PMID:17507829 RGD:4143381 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C ISO protein:increased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression, altered degradation:lung RGD PMID:18211966 RGD:4143502 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystic fibrosis		 CTD
ClinVar
OMIM
RGD		 PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... RGD:4145125 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:25545245 RGD:13204794 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:monocyte RGD PMID:20717938 PMID:20522639 RGD:4144105, RGD:4144179 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr5 toll-like receptor 5 resistance ISO protein:increased expression:lung, sputum, neutrophil (human)
DNA:snp:cds:c.1174C>T rs5744168 (human)		 RGD PMID:18684966 PMID:21068401 RGD:5129506, RGD:5129499 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:20837493 RGD:5130208 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:sputum
DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human)		 RGD PMID:7537567 PMID:21993476 RGD:4142846, RGD:6767553 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
duodenal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 severity ISO mRNA:decreased expression:duodenum RGD PMID:23021139 PMID:21492869 RGD:14367881, RGD:14367883 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Duodenal stenosis ClinVar PMID:1370875 PMID:1377276 PMID:1379413 PMID:1380673 PMID:1381146 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
Familial Visceral Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22960657 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 treatment IEP associated with Sepsis RGD PMID:22921918 RGD:10755726 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase treatment IEP RGD PMID:30852906 RGD:151893492 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Mir222 microRNA 222 treatment IEP RGD PMID:30852906 RGD:151893492 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression:jejunum, colon, peritoneal fluid RGD PMID:23079570 RGD:8547906 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:30852906 RGD:151893492 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Clmp CXADR-like membrane protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intestinal pseudo-obstruction		 CTD
ClinVar		 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 PMID:28708303 NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:25407000 PMID:25741868 PMID:31389005 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:25741868 PMID:31389005 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Nup35 nucleoporin 35 ISS MouseDO NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130 		JBrowse link
G Pten phosphatase and tensin homolog ISS MouseDO NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:24177421 RGD:8547979 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:25741868 NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520 		JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642 		JBrowse link
intestinal volvulus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Meconium Ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:22521417 PMID:25370039 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus OMIM
ClinVar		 PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 More... NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:155310
ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal		 CTD
MouseDO
ClinVar
OMIM		 PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 PMID:25741916 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:24033266 PMID:25333361 PMID:25741868 PMID:28492532 PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM
ClinVar		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:22001912 PMID:24033266 PMID:25741868 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 OMIM
ClinVar		 PMID:25741905 PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 ClinVar
OMIM		 PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 OMIM
ClinVar		 PMID:11474115 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)		 OMIM
CTD
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mungan syndrome		 OMIM
CTD
ClinVar		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
neuronal intestinal dysplasia type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 susceptibility ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:33497358 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
Visceral Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 OMIM
ClinVar		 PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 ClinVar PMID:9536098 PMID:17576681 PMID:18391202 PMID:22001912 PMID:24033266 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
Volvulus Of Midgut term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) RGD PMID:27481450 RGD:12801473 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10982489 PMID:12612583 PMID:16417552 PMID:16822260 PMID:18414213 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          intestinal obstruction 211
            Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery 0
            Fecal Impaction 0
            Microcolon 0
            afferent loop syndrome 0
            cystic fibrosis + 108
            duodenal obstruction + 4
            ileus + 32
            intestinal impaction 0
            intestinal volvulus + 73
            intussusception 0
paths to the root