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: pancreatic agenesis
Accession: DOID:0050877
browse the term
Definition: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)
Synonyms: exact_synonym: PAGEN; congenital pancreatic agenesis; congenital pancreatic hypoplasia; pancreatic hypoplasia
narrow_synonym: partial pancreatic agenesis
broad_synonym: PDX1-RELATED DISORDER
alt_id: DOID:9003314; DOID:9009230
xref: GARD:4203 ; MESH:C564908 ; MIM:PS260370 ; MONDO:0009832 ; ORDO:2805
Please select species to view GViewer data.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
G
G
GATA6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
G
P
GATA6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
G
S
Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
G
D
GATA6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr 7:65,932,114...65,962,574
G
B
GATA6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:15,411,764...15,444,402
G
R
Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
G
M
Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
G
H
GATA6
GATA binding protein 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
G
N
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chrNW_004624776:10,591,855...10,596,738
Ensembl chrNW_004624776:10,591,855...10,596,676
G
G
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr 3:7,038,088...7,046,593
Ensembl chr 3:7,041,466...7,045,976
G
P
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
G
S
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chrNW_004936472:23,102,534...23,107,127
Ensembl chrNW_004936472:23,102,534...23,107,127
G
D
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
G
B
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr13:9,199,572...9,206,202
G
C
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia
ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chrNW_004955497:7,281,886...7,307,969
G
R
Pdx1
pancreatic and duodenal homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic hypoplasia
CTD ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:22158542 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
G
M
Pdx1
pancreatic and duodenal homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic hypoplasia
CTD ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:22158542 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
G
H
PDX1
pancreatic and duodenal homeobox 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic hypoplasia
CTD ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:22158542 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31366392 PMID:34988346 More...
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
G
N
Ptf1a
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chrNW_004624796:5,548,982...5,550,563
Ensembl chrNW_004624796:5,549,184...5,550,439
G
G
PTF1A
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr 9:22,944,122...22,965,905
Ensembl chr 9:22,964,164...22,965,565
G
P
PTF1A
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
G
S
Ptf1a
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chrNW_004936520:4,978,896...4,980,648
Ensembl chrNW_004936520:4,978,896...4,980,648
G
D
PTF1A
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr 2:10,069,594...10,071,360
Ensembl chr 2:10,069,581...10,071,336
G
B
PTF1A
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr10:23,356,165...23,359,579
G
C
Ptf1a
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chrNW_004955429:5,807,804...5,809,522
Ensembl chrNW_004955429:5,808,124...5,809,522
G
R
Ptf1a
pancreas associated transcription factor 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
G
M
Ptf1a
pancreas specific transcription factor, 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312
G
H
PTF1A
pancreas associated transcription factor 1a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chrNW_004624776:10,591,855...10,596,738
Ensembl chrNW_004624776:10,591,855...10,596,676
G
G
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr 3:7,038,088...7,046,593
Ensembl chr 3:7,041,466...7,045,976
G
P
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
G
S
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chrNW_004936472:23,102,534...23,107,127
Ensembl chrNW_004936472:23,102,534...23,107,127
G
D
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
G
B
PDX1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr13:9,199,572...9,206,202
G
C
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chrNW_004955497:7,281,886...7,307,969
G
R
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
G
M
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
G
H
PDX1
pancreatic and duodenal homeobox 1
IAGP
ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
M
4921504E06Rik
RIKEN cDNA 4921504E06 gene
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr 2:19,467,648...19,558,721
Ensembl chr 2:19,467,648...19,558,725
G
P
C10H10orf67
chromosome 10 C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr10:51,683,170...51,812,140
Ensembl chr10:51,683,329...51,812,646
G
H
C10orf67
chromosome 10 open reading frame 67
IAGP
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr10:23,201,916...23,344,797
Ensembl chr10:23,202,696...23,344,845
G
R
C17h10orf67
similar to human chromosome 10 open reading frame 67
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353
G
D
C2H10orf67
chromosome 2 C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr 2:9,864,753...10,061,384
Ensembl chr 2:9,900,035...10,067,876
G
B
C8H10orf67
chromosome 8 C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr10:23,366,945...23,516,413
G
G
C9H10orf67
chromosome 9 C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr 9:22,975,457...23,085,011
G
N
CUNH10orf67
chromosome unknown C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chrNW_004624796:5,423,959...5,466,321
G
S
CUNH10orf67
chromosome unknown C10orf67 homolog
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chrNW_004936520:4,837,373...4,968,939
G
C
LOC102011029
chromosome unknown open reading frame, human C10orf67
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chrNW_004955429:5,674,076...5,798,289
G
N
Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chrNW_004624796:5,548,982...5,550,563
Ensembl chrNW_004624796:5,549,184...5,550,439
G
G
PTF1A
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr 9:22,944,122...22,965,905
Ensembl chr 9:22,964,164...22,965,565
G
P
PTF1A
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chrNW_004936520:4,978,896...4,980,648
Ensembl chrNW_004936520:4,978,896...4,980,648
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PTF1A
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr 2:10,069,594...10,071,360
Ensembl chr 2:10,069,581...10,071,336
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PTF1A
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr10:23,356,165...23,359,579
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chrNW_004955429:5,807,804...5,809,522
Ensembl chrNW_004955429:5,808,124...5,809,522
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Ptf1a
pancreas specific transcription factor, 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312
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PTF1A
pancreas associated transcription factor 1a
IAGP
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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LOC103235209
uncharacterized LOC103235209
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 3
OMIM ClinVar
PMID:25741868 PMID:37308312 PMID:37973953
NCBI chr 6:45,264,119...45,286,626
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ZNF808
zinc finger protein 808
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 3
OMIM ClinVar
PMID:25741868 PMID:37308312 PMID:37973953
NCBI chr19:49,481,054...49,522,318
Ensembl chr19:58,412,939...58,426,454
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ZNF808
zinc finger protein 808
IAGP
ClinVar Annotator: match by term: Pancreatic agenesis 3
OMIM ClinVar
PMID:25741868 PMID:37308312 PMID:37973953
NCBI chr19:52,527,668...52,568,753
Ensembl chr19:52,527,652...52,564,464
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Acadvl
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332
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ACADVL
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979
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ACADVL
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748
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Acadvl
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
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ACADVL
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
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ACADVL
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
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Acadvl
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075
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Acadvl
acyl-Coenzyme A dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237
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ACADVL
acyl-CoA dehydrogenase very long chain
IAGP
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100
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DLG4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867
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DLG4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143
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S
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936595:487,918...513,843
Ensembl chrNW_004936595:485,554...513,815
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DLG4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
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DLG4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
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C
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872
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R
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348
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DLG4
discs large MAGUK scaffold protein 4
IAGP
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ClinVar
PMID:25741868
NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr 7:65,932,114...65,962,574
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr18:15,411,764...15,444,402
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R
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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M
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OMIM ClinVar
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
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H
GATA6
GATA binding protein 6
IAGP
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
ClinVar OMIM
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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