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hereditary arterial and articular multiple calcification syndrome - Ontology Report - Rat Genome Database

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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:hereditary arterial and articular multiple calcification syndrome
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Accession:DOID:0111582 term browser browse the term
Definition:A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. (DO)
Synonyms:exact_synonym: ACDC;   CALJA;   NT5E-RELATED CONDITION;   arterial calcification and distal joint calcification;   arterial calcification due to CD73 deficiency;   arterial calcification due to deficiency of CD73;   calcification of joints and arteries
 primary_id: MESH:C565891
 alt_id: MIM:211800
 xref: GARD:10762;   NCI:C201591;   ORDO:289601

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hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nt5e 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004624799:8,766,608...8,845,296
Ensembl chrNW_004624799:8,765,711...8,845,778 		JBrowse link
G G NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr13:10,115,591...10,162,178
Ensembl chr13:10,116,161...10,160,414 		JBrowse link
G P NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 1:54,400,786...54,450,743
Ensembl chr 1:54,400,810...54,448,742 		JBrowse link
G S Nt5e 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004936510:5,797,218...5,846,118
Ensembl chrNW_004936510:5,797,212...5,846,124 		JBrowse link
G D NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr12:45,491,028...45,520,019
Ensembl chr12:45,491,733...45,518,405 		JBrowse link
G B NT5E 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 6:83,333,428...83,379,585
Ensembl chr 6:86,615,409...86,661,601 		JBrowse link
G C Nt5e 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004955411:12,891,236...12,946,324
Ensembl chrNW_004955411:12,891,236...12,948,406 		JBrowse link
G R Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition		 OMIM
CTD
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 8:98,150,925...98,195,646
Ensembl chr 8:89,270,696...89,314,881 		JBrowse link
G M Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition		 OMIM
CTD
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145 		JBrowse link
G H NT5E 5'-nucleotidase ecto IAGP
EXP		 ClinVar Annotator: match by term: NT5E-related condition
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G N Tnfrsf11b TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G G TNFRSF11B TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G P TNFRSF11B TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G S Tnfrsf11b TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G D TNFRSF11B TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G B TNFRSF11B TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G C Tnfrsf11b TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G R Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G M Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G H TNFRSF11B TNF receptor superfamily member 11b IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G P AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G S Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G D AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G B AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		JBrowse link
G C Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G R Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G M Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G H AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G N Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G P AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G S Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G D AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G B AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G C Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G R Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G M Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G H AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G N Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004624828:7,429,915...7,432,898
Ensembl chrNW_004624828:7,429,915...7,432,562 		JBrowse link
G G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002 		JBrowse link
G P ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632 		JBrowse link
G S Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782 		JBrowse link
G D ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722 		JBrowse link
G B ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945
G C Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004955495:6,664,394...6,666,693
Ensembl chrNW_004955495:6,664,394...6,666,693 		JBrowse link
G R Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G M Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr10:79,974,451...79,981,662
Ensembl chr10:79,974,466...79,981,652 		JBrowse link
G H ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G N Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr13:41,670,416...41,755,549 JBrowse link
G P ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G S Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004937067:194,375...246,607 JBrowse link
G D ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718 		JBrowse link
G B ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
G C Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359 		JBrowse link
G R Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G M Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IMP RGD PMID:15625282 RGD:13204716 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057 		JBrowse link
G H ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G N Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004624792:4,623,082...4,633,545
Ensembl chrNW_004624792:4,623,097...4,633,570 		JBrowse link
G G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:20,496,201...20,508,551
Ensembl chr18:20,496,516...20,507,153 		JBrowse link
G P GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr 1:161,708,815...161,721,986
Ensembl chr 1:161,708,812...161,721,782 		JBrowse link
G S Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004936497:5,473,293...5,487,344
Ensembl chrNW_004936497:5,476,800...5,487,358 		JBrowse link
G D GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr 1:16,974,818...16,987,578
Ensembl chr 1:16,975,113...16,987,531 		JBrowse link
G B GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188 		JBrowse link
G C Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004955402:43,382,608...43,393,452
Ensembl chrNW_004955402:43,382,552...43,393,463 		JBrowse link
G R Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:61,658,655...61,672,037
Ensembl chr18:59,388,274...59,402,061 		JBrowse link
G M Grp gastrin releasing peptide treatment IEP associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667 		JBrowse link
G H GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774 		JBrowse link
G N Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905 		JBrowse link
G G GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938 		JBrowse link
G P GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848 		JBrowse link
G S Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841 		JBrowse link
G D GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129 		JBrowse link
G B GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831 		JBrowse link
G C Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361 		JBrowse link
G R Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G M Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904 		JBrowse link
G H GSN gelsolin disease_progression IEP protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G N Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
G G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G P SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G S Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G D SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G B SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:18,029,831...18,037,526 JBrowse link
G C Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G R Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G M Sod1 superoxide dismutase 1, soluble ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G H SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G N Sod2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G G SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G P SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G S Sod2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G D SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G B SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G C Sod2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G R Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G M Sod2 superoxide dismutase 2, mitochondrial ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G H SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G N Vkorc1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chrNW_004624782:14,141,545...14,144,181
Ensembl chrNW_004624782:14,141,545...14,144,177 		JBrowse link
G G VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 5:27,778,553...27,782,639
Ensembl chr 5:27,776,416...27,782,640 		JBrowse link
G P VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 3:17,386,230...17,389,162
Ensembl chr 3:17,386,245...17,389,905 		JBrowse link
G S Vkorc1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174 		JBrowse link
G D VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 6:17,140,565...17,142,621
Ensembl chr 6:17,140,633...17,142,547 		JBrowse link
G B VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr16:23,871,756...23,876,599
Ensembl chr16:31,459,560...31,464,897 		JBrowse link
G C Vkorc1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chrNW_004955493:7,928,516...7,931,265 JBrowse link
G R Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:191,932,969...191,935,490
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
G M Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626
Ensembl chr 7:127,485,399...127,494,626 		JBrowse link
G H VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004624756:12,935,048...13,449,312
Ensembl chrNW_004624756:12,934,212...13,447,326 		JBrowse link
G G PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr17:58,859,456...59,440,969
Ensembl chr17:58,862,828...59,133,298 		JBrowse link
G P PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr 7:9,105,422...9,666,886
Ensembl chr 7:9,105,874...9,666,881 		JBrowse link
G S Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004936534:42,354...323,735
Ensembl chrNW_004936534:42,433...536,171 		JBrowse link
G D PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr35:12,233,152...12,745,031
Ensembl chr35:12,491,067...12,741,754 		JBrowse link
G B PHACTR1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609 		JBrowse link
G C Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004955465:1,395,418...1,915,820
Ensembl chrNW_004955465:1,395,088...1,913,847 		JBrowse link
G R Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr17:21,769,006...22,246,227
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G M Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr13:42,833,909...43,292,002
Ensembl chr13:42,834,099...43,292,002 		JBrowse link
G H PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G N Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G G TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G P TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G S Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G D TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G B TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G C Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G R Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G M Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G H TNFRSF11B TNF receptor superfamily member 11b severity IEP associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      hereditary arterial and articular multiple calcification syndrome 477
        Aortic Calcification 96
        Coronary Artery Calcification 371
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                hereditary arterial and articular multiple calcification syndrome 477
                  Aortic Calcification 96
                  Coronary Artery Calcification 371
paths to the root