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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


show annotations for term's descendants           Sort by:
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 chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G B9d1 B9 domain containing 1 ISS
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:257,629,188...257,682,373
Ensembl chr 1:257,629,208...257,675,247 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 8:12,156,568...12,194,542
Ensembl chr 8:12,156,554...12,194,552 		JBrowse link
G Cep55 centrosomal protein 55 ISS MouseDO NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		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 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:79,113,784...79,145,359
Ensembl chr 1:79,112,506...79,145,465 		JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 4:61,807,706...62,584,316
Ensembl chr 4:61,807,761...62,585,723 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rpgrip1l Rpgrip1-like ISS
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 PMID:25741868 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
G Tmem67 transmembrane protein 67 ISS
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178 		JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:27894351 PMID:29209597 PMID:31411728 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539 		JBrowse link
Meckel syndrome 1 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: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		JBrowse link
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 Annotator: match by term: Gruber syndrome ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
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)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome		 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
Meckel Syndrome 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: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 OMIM
ClinVar		 PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Meckel Syndrome 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 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel syndrome, type 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		JBrowse link
Meckel Syndrome 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 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		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 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
Meckel Syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel syndrome 14 OMIM
ClinVar		 PMID:25741868 PMID:27894351 PMID:31411728 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539 		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-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		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-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
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		 OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11063677, RGD:11070805 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		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: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
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 chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Meckel Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 OMIM
ClinVar		 PMID:21493627 PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637 		JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802 		JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      ciliopathy 1024
        Meckel syndrome 53
          Meckel Syndrome 10 2
          Meckel Syndrome 11 2
          Meckel Syndrome 12 1
          Meckel Syndrome 14 1
          Meckel Syndrome 9 16
          Meckel syndrome 1 16
          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 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            ciliopathy 1024
              Meckel syndrome 53
                Meckel Syndrome 10 2
                Meckel Syndrome 11 2
                Meckel Syndrome 12 1
                Meckel Syndrome 14 1
                Meckel Syndrome 9 16
                Meckel syndrome 1 16
                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