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: ileus
Accession: DOID:8440
browse the term
Definition: A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced.
Synonyms: exact_synonym: ileus of intestine
primary_id: MESH:D045823
xref: NCI:C37979
For additional species annotation, visit the
Alliance of Genome Resources .
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 chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
G
Kit
KIT proto-oncogene receptor tyrosine kinase
treatment
IEP
RGD
PMID:30852906
RGD:151893492
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
G
Mir222
microRNA 222
treatment
IEP
RGD
PMID:30852906
RGD:151893492
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
G
Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression:jejunum, colon, peritoneal fluid
RGD
PMID:23079570
RGD:8547906
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Nos3
nitric oxide synthase 3
treatment
IEP
RGD
PMID:30852906
RGD:151893492
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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 PMID:24337657 PMID:24676022 PMID:24777424 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:26938784 PMID:27481187 PMID:28422808 PMID:29387497 PMID:29608093 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969 More...
NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465
G
Lmod1
leiomodin 1
ISO
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
ClinVar
PMID:28292896
NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900
G
Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
ClinVar
PMID:25407000
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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 3:165,742,020...165,748,409
Ensembl chr 3:145,281,937...145,288,333
G
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
ClinVar
PMID:28602422
NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sgo1
shugoshin 1
ISO
ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia | ClinVar Annotator: match by term: SGO1-related condition
OMIM ClinVar
PMID:25282101 PMID:25741868 PMID:28492532
NCBI chr 9:6,908,661...6,943,483
Ensembl chr 9:6,672,123...6,687,805
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 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465
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 PMID:24337657 PMID:24676022 PMID:24777424 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:26938784 PMID:27481187 PMID:28422808 PMID:29387497 PMID:29608093 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969 More...
NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465
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 8:49,957,639...50,065,959
Ensembl chr 8:41,060,799...41,168,838
G
Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
G
Lmod1
leiomodin 1
ISO
ClinVar Annotator: match by term: Visceral myopathy
ClinVar
PMID:28292896
NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900
G
Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy
ClinVar
PMID:18391202 PMID:25407000 PMID:25741868 PMID:28492532 PMID:31389005 PMID:31536524 PMID:31944481 PMID:33144682 PMID:36579105 PMID:37288276 More...
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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 3:165,742,020...165,748,409
Ensembl chr 3:145,281,937...145,288,333
G
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Visceral myopathy
ClinVar
PMID:28602422
NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
G
Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar
PMID:18391202 PMID:25741868 PMID:28492532 PMID:31389005 PMID:31536524 PMID:31944481 PMID:33144682 PMID:36579105 PMID:37288276 More...
NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869
G
Nup35
nucleoporin 35
ISS
MouseDO
NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130
G
Pten
phosphatase and tensin homolog
ISS
MouseDO
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Rb1
RB transcriptional corepressor 1
ISO
RGD
PMID:24177421
RGD:8547979
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Spry2
sprouty RTK signaling antagonist 2
ISS
OMIM:243180 | OMIM:601223
MouseDO
NCBI chr15:89,106,809...89,111,926
Ensembl chr15:82,692,143...82,698,009
G
Tfap2b
transcription factor AP-2 beta
ISO
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar
PMID:25741868
NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:21,786,258...21,814,520
G
Tlx2
T-cell leukemia homeobox 2
ISS
OMIM:243180 | OMIM:601223
MouseDO
NCBI chr 4:117,131,516...117,133,359
Ensembl chr 4:115,573,799...115,575,642
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
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 PMID:28492532 PMID:33223529 PMID:33883099 More...
NCBI chr 4:171,299,715...171,380,296
Ensembl chr 4:169,568,529...169,649,092
G
Hfe
homeostatic iron regulator
ISO
associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)
RGD
PMID:30291871
RGD:14701045
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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 PMID:24337657 PMID:24676022 PMID:24777424 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:26938784 PMID:27481187 PMID:28422808 PMID:29387497 PMID:29608093 PMID:29781137 PMID:30019982 PMID:31769566 PMID:32814715 PMID:33294969 More...
NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465
G
Chrm3
cholinergic receptor, muscarinic 3
ISS
OMIM:155310
MouseDO
NCBI chr17:64,696,549...65,158,622
Ensembl chr17:60,005,202...60,467,278
G
Lmod1
leiomodin 1
ISO
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
ClinVar
PMID:28292896
NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900
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:25741868
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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 3:165,742,020...165,748,409
Ensembl chr 3:145,281,937...145,288,333
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 chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
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 PMID:24033266 PMID:25326637 PMID:25637381 PMID:25741868 PMID:26017485 PMID:27146836 PMID:27153395 PMID:27879251 PMID:28139901 PMID:28254189 PMID:28391405 PMID:28492532 PMID:28602422 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29961567 PMID:30675029 PMID:30755392 PMID:33895855 PMID:34422331 PMID:38999368 More...
NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
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:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:21521776 PMID:22001912 PMID:22511748 PMID:24033266 PMID:25110237 PMID:25407000 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28469501 PMID:28492532 PMID:29494672 PMID:29543232 PMID:29575632 PMID:29907982 PMID:29961567 PMID:30684648 PMID:30739908 PMID:30809044 PMID:30885847 PMID:31389005 PMID:31944481 PMID:32238909 PMID:33083483 PMID:33726816 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36788754 PMID:36973604 More...
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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 PMID:28469501 PMID:28492532 PMID:29543232 PMID:29907982 PMID:32238909 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36973604 More...
NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869
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:25741868 PMID:28292896
NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900
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 3:165,742,020...165,748,409
Ensembl chr 3:145,281,937...145,288,333
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: ACTG2-related condition | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
OMIM ClinVar
PMID:11474115 PMID:22960657 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:26938784 PMID:27481187 PMID:28422808 PMID:28492532 PMID:29608093 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969 More...
NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465
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 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640
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 7:122,302,550...122,319,570
Ensembl chr 7:120,422,956...120,439,938
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 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: Thymidine phosphorylase deficiency
ClinVar
PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:16896309 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27111573 PMID:27119776 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30818899 PMID:30936349 PMID:30941926 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31765440 PMID:31980526 PMID:31996268 PMID:32042919 PMID:32234506 PMID:32305867 PMID:32391929 PMID:32445240 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34782754 PMID:34927673 PMID:35350396 PMID:35861376 PMID:36325100 PMID:36703223 PMID:37091313 PMID:37184518 PMID:37256495 More...
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | 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 PMID:17576681 PMID:18504129 PMID:19125351 PMID:19138848 PMID:19616983 PMID:19664747 PMID:19667227 PMID:21297166 PMID:21378381 PMID:21646632 PMID:21951382 PMID:22176657 PMID:23107649 PMID:23307888 PMID:24086434 PMID:24741716 PMID:25326635 PMID:25326637 PMID:25502805 PMID:25741868 PMID:26167114 PMID:26467025 PMID:26546047 PMID:27290639 PMID:27483465 PMID:28482374 PMID:28492532 PMID:28639102 PMID:28812649 PMID:29241262 PMID:30439532 PMID:30909120 PMID:31130284 PMID:31462754 PMID:31521625 PMID:31589614 PMID:31794469 PMID:32161153 PMID:32313153 PMID:33144682 PMID:33300680 PMID:33858029 PMID:34706366 PMID:35188226 PMID:35237671 PMID:35286480 PMID:35756861 PMID:36959467 PMID:38991193 More...
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633
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 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16178026 PMID:16198108 PMID:16199547 PMID:16995425 PMID:17576681 PMID:19056268 PMID:19344718 PMID:19748572 PMID:19853446 PMID:20151198 PMID:20232099 PMID:20301358 PMID:21820356 PMID:22011815 PMID:23341816 PMID:23430799 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26264513 PMID:26467025 PMID:27104957 PMID:28492532 PMID:33533561 PMID:35085849 More...
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19125351 PMID:19667227 PMID:22176657 PMID:23307888 PMID:24741716 PMID:25741868 PMID:28492532 PMID:29241262 PMID:31589614 PMID:32161153 PMID:33300680 PMID:35237671 PMID:35286480 More...
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633
G
Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16972839 PMID:22977166
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive
ClinVar OMIM
PMID:25741868 PMID:33497358
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
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:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:18391202 PMID:21521776 PMID:22001912 PMID:22511748 PMID:24033266 PMID:25110237 PMID:25407000 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28469501 PMID:28492532 PMID:29494672 PMID:29543232 PMID:29575632 PMID:29907982 PMID:29961567 PMID:30684648 PMID:30739908 PMID:30809044 PMID:30885847 PMID:31389005 PMID:31536524 PMID:31944481 PMID:32238909 PMID:33083483 PMID:33144682 PMID:33726816 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36579105 PMID:36788754 PMID:36973604 PMID:37288276 More...
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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 PMID:25741868 PMID:28469501 PMID:28492532 PMID:29543232 PMID:29907982 PMID:31389005 PMID:31536524 PMID:31944481 PMID:32238909 PMID:33144682 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36579105 PMID:36973604 PMID:37288276 More...
NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869
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:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30089473 PMID:30712057 PMID:30986657 PMID:37175682 More...
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857
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