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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:Meckel syndrome
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Accession:DOID:0050778 term browser browse the term
Definition:A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)
Synonyms:exact_synonym: Meckel Gruber syndrome
 xref: GARD:3436;   ICD9CM:753.1;   NCI:C98978;   OMIM:PS249000;   ORDO:564
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G B9d1 B9 domain containing 1 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:25741868 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:18414213 PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:279,633,655...279,699,234
Ensembl chr 1:279,633,671...279,676,909
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:18414213 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23954617 PMID:25377065 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26673778 PMID:27353947 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29398085 PMID:29482223 PMID:30718709 PMID:32865313 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 8:13,871,065...13,909,249
Ensembl chr 8:13,871,213...13,909,188
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 1:80,372,708...80,404,275
Ensembl chr 1:80,383,050...80,404,290
JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 4:60,549,128...61,358,305
Ensembl chr 4:60,549,197...61,355,994
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO
ISS
ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar
MouseDO
PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:18414213 PMID:19466712 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:28492532 PMID:28497568 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rpgrip1l Rpgrip1-like ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 1:226,623,861...226,630,911
Ensembl chr 1:226,623,861...226,630,900
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:23349226 PMID:25558065 PMID:25741868 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 PMID:25741868 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Tmem67 transmembrane protein 67 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:78,567,453...78,779,151
Ensembl chr 6:78,567,970...78,631,557
JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar PMID:25741868 NCBI chr17:9,429,171...9,441,628
Ensembl chr17:9,429,175...9,441,526
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564974 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 PMID:29398085 PMID:29482223 PMID:32865313 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:29620724 PMID:30718709, PMID:23351400, PMID:17935508, PMID:19776033, PMID:21045211, PMID:17397051 RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494 PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
PMID:2929661 PMID:9375913 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22121117 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258, PMID:19211713, PMID:16415887, PMID:16415887, PMID:26191240, PMID:23351400, PMID:17377820, PMID:17397051 RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
Meckel syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23351400 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25377065 PMID:25525159 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:27353947 PMID:27894351 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29146704 PMID:29398085 PMID:29588463 PMID:30718709 PMID:31680349 PMID:31734136, PMID:17705300 RGD:11070805 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409 PMID:18414213 PMID:19430481 PMID:21068128 PMID:23188109 PMID:24033266 PMID:25741868 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
OMIM
ClinVar
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28492532 PMID:29165578 PMID:32488064 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:21462283 PMID:23169490 PMID:26729329 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:33532864 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Meckel syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel syndrome type 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 8
ClinVar Annotator: match by OMIM:613885
ClinVar Annotator: match by term: Meckel syndrome 8
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:25118024 PMID:25741868 PMID:26092869 PMID:26729329 PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
Meckel Syndrome, Type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 10
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21763481 PMID:25741868 PMID:28492532 NCBI chr 1:82,473,254...82,479,704
Ensembl chr 1:82,473,737...82,479,900
JBrowse link
Meckel Syndrome, Type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 11 ClinVar PMID:21565790 PMID:25741868 PMID:28492532 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by OMIM:615397
ClinVar Annotator: match by term: Meckel syndrome, type 11
OMIM
ClinVar
PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
Meckel Syndrome, Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
OMIM
PMID:24128419 PMID:25741868 NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
JBrowse link
Meckel Syndrome, Type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21493627 PMID:25741868 PMID:28492532 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      ciliopathy 273
        Meckel syndrome 33
          Meckel Syndrome, Type 10 1
          Meckel Syndrome, Type 11 2
          Meckel Syndrome, Type 12 1
          Meckel Syndrome, Type 9 1
          Meckel syndrome 1 6
          Meckel syndrome 13 1
          Meckel syndrome 2 1
          Meckel syndrome 3 3
          Meckel syndrome 4 3
          Meckel syndrome 5 1
          Meckel syndrome 6 3
          Meckel syndrome 7 1
          Meckel syndrome 8 2
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            ciliopathy 273
              Meckel syndrome 33
                Meckel Syndrome, Type 10 1
                Meckel Syndrome, Type 11 2
                Meckel Syndrome, Type 12 1
                Meckel Syndrome, Type 9 1
                Meckel syndrome 1 6
                Meckel syndrome 13 1
                Meckel syndrome 2 1
                Meckel syndrome 3 3
                Meckel syndrome 4 3
                Meckel syndrome 5 1
                Meckel syndrome 6 3
                Meckel syndrome 7 1
                Meckel syndrome 8 2
paths to the root