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pseudoxanthoma elasticum - 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:pseudoxanthoma elasticum
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Accession:DOID:2738 term browser browse the term
Definition:A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (DO)
Synonyms:exact_synonym: Groenblad-Strandberg syndrome;   Gronblad Strandberg Syndrome;   Incomplete Pseudoxanthoma Elasticum;   Incomplete Pseudoxanthoma Elasticums;   PXE;   Pseudoxanthoma Elasticum, Autosomal Dominant;   Pseudoxanthoma Elasticum, Forme Fruste
 narrow_synonym: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS
 broad_synonym: XYLT2-RELATED CONDITION
 related_synonym: PXE, MODIFIER OF SEVERITY OF;   pseudoxanthoma elasticum, modifier of severity of
 primary_id: MESH:D011561
 alt_id: MIM:177850;   MIM:264800
 xref: GARD:9643;   NCI:C85036;   ORDO:758
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004624782:449,217...590,306
Ensembl chrNW_004624782:449,288...591,310 		JBrowse link
G G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567 		JBrowse link
G P ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
G S Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004936501:3,400,971...3,467,061
Ensembl chrNW_004936501:3,401,285...3,470,460 		JBrowse link
G D ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
G B ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094
G C Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004955442:729,322...858,826
Ensembl chrNW_004955442:729,316...860,290 		JBrowse link
G R Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		JBrowse link
G M Abcc1 ATP-binding cassette, sub-family C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		JBrowse link
G H ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
G N Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		JBrowse link
G G ABCC2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265 		JBrowse link
G P ABCC2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898 		JBrowse link
G S Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393 		JBrowse link
G D ABCC2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G B ABCC2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270 		JBrowse link
G C Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812 		JBrowse link
G R Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G M Abcc2 ATP-binding cassette, sub-family member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G H ABCC2 ATP binding cassette subfamily C member 2 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:28492532 PMID:29499989 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G N Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G G ABCC6 ATP binding cassette subfamily C member 6 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chr 5:15,169,725...15,243,731
Ensembl chr 5:15,168,156...15,242,811 		JBrowse link
G P ABCC6 ATP binding cassette subfamily C member 6 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,214...28,356,706 		JBrowse link
G S Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G D ABCC6 ATP binding cassette subfamily C member 6 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689 		JBrowse link
G C Abcc6 ATP binding cassette subfamily C member 6 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chrNW_004955442:865,292...921,739
Ensembl chrNW_004955442:865,238...922,221 		JBrowse link
G R Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association		 ISO
ISS
IMP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
OMIM:177850 | OMIM:264800
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G M Abcc6 ATP-binding cassette, sub-family C member 6 susceptibility
no_association		 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
OMIM:177850 | OMIM:264800
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G H ABCC6 ATP binding cassette subfamily C member 6 susceptibility
no_association		 IAGP
ISS
ISO
EXP		 ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
OMIM:177850 | OMIM:264800
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G R Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G R Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G R Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Z abcc6a ATP-binding cassette, sub-family C (CFTR/MRP), member 6a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25758222
G H AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:24581741 PMID:25741868 PMID:28492532 NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G N Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G G CAT catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G P CAT catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G S Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G D CAT catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G B CAT catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G C Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G R Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G M Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G H CAT catalase onset IAGP DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G N Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004624782:378,772...432,863
Ensembl chrNW_004624782:376,018...397,751 		JBrowse link
G G CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 5:14,887,676...14,911,655
Ensembl chr 5:14,887,680...14,911,601 		JBrowse link
G P CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:6,977,195...6,996,024
Ensembl chr 3:6,977,215...6,996,022 		JBrowse link
G S Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004936501:3,320,671...3,333,705
Ensembl chrNW_004936501:3,318,701...3,333,845 		JBrowse link
G D CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 6:28,016,253...28,035,117
Ensembl chr 6:28,016,317...28,033,720 		JBrowse link
G B CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094
G C Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004955442:650,033...665,540
Ensembl chrNW_004955442:649,272...665,714 		JBrowse link
G R Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr10:1,221,294...1,243,144
Ensembl chr10:714,151...736,837 		JBrowse link
G M Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269 		JBrowse link
G H CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625 		JBrowse link
G N Eln elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G G ELN elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chr28:8,999,164...9,048,703 JBrowse link
G P ELN elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G S Eln elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G D ELN elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G B ELN elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763
G C Eln elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G R Eln elastin ISO RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G M Eln elastin ISO RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G H ELN elastin IEP
IDA		 RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G N Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G G GPX1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr22:10,754,976...10,756,617 JBrowse link
G P GPX1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G S Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G D GPX1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G B GPX1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G C Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G R Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G M Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G H GPX1 glutathione peroxidase 1 onset IAGP DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G H LOC112340382 Sharpr-MPRA regulatory region 4662 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:16,022,072...16,022,366 JBrowse link
G H LOC113939949 Sharpr-MPRA regulatory region 5546 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr16:15,765,912...15,766,206 JBrowse link
G H LOC121587532 BRD4-independent group 4 enhancer GRCh37_chr16:15972689-15973888 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:15,878,832...15,880,031 JBrowse link
G H LOC125146420 Sharpr-MPRA regulatory region 7660 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:16,041,352...16,041,646 JBrowse link
G H LOC125146421 Sharpr-MPRA regulatory region 15590 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete		 ClinVar PMID:10835643 PMID:11439001 PMID:12673275 PMID:15098239 PMID:15723264 More... NCBI chr16:16,150,332...16,150,626 JBrowse link
G H LOC126862300 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15993095-15994294 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:15,899,238...15,900,437 JBrowse link
G N Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G G MMP2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G P MMP2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G S Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G D MMP2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G B MMP2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G C Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G R Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G M Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G H MMP2 matrix metallopeptidase 2 IAGP DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G N Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G P MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G S Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G D MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G B MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G C Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G R Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G M Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G H MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G N Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
G G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr 5:14,670,559...14,720,025
Ensembl chr 5:14,684,215...14,722,192 		JBrowse link
G P NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G S Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
G D NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051 		JBrowse link
G B NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 Ensembl chr16:15,948,881...16,027,986 JBrowse link
G C Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G R Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869 		JBrowse link
G M Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G H NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G N Sod2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G P SOD2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 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 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G H SOD2 superoxide dismutase 2 onset IAGP DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G N Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr17:28,377,959...28,394,508 JBrowse link
G P VEGFA vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G S Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G D VEGFA vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G B VEGFA vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G C Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G R Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G M Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G H VEGFA vascular endothelial growth factor A susceptibility IAGP DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G N Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chrNW_004624782:1,462,888...1,763,267
Ensembl chrNW_004624782:1,462,916...1,757,206 		JBrowse link
G G XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 5:16,197,982...16,566,893 JBrowse link
G P XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762 		JBrowse link
G S Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chrNW_004936501:4,164,714...4,337,604
Ensembl chrNW_004936501:4,187,213...4,331,783 		JBrowse link
G D XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 6:26,742,853...27,041,666
Ensembl chr 6:26,742,853...27,041,666 		JBrowse link
G B XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818 		JBrowse link
G C Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chrNW_004955442:1,787,338...2,042,523
Ensembl chrNW_004955442:1,745,924...2,036,340 		JBrowse link
G R Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF		 OMIM
CTD
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
G M Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF		 OMIM
CTD
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 7:116,980,214...117,266,853
Ensembl chr 7:116,980,214...117,272,803 		JBrowse link
G H XYLT1 xylosyltransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G N Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:6,285,939...6,297,874
Ensembl chrNW_004624795:6,285,903...6,299,038 		JBrowse link
G G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr16:42,969,198...42,984,542
Ensembl chr16:42,970,041...42,984,438 		JBrowse link
G P XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520 		JBrowse link
G S Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chrNW_004936490:11,327,654...11,340,417
Ensembl chrNW_004936490:11,326,859...11,340,453 		JBrowse link
G D XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr 9:26,316,812...26,329,333
Ensembl chr 9:26,316,774...26,329,511 		JBrowse link
G B XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr17:44,440,428...44,455,530
Ensembl chr17:49,315,250...49,331,654 		JBrowse link
G C Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:11,347,254...11,354,489
Ensembl chrNW_004955451:11,344,780...11,354,489 		JBrowse link
G R Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
G M Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
G H XYLT2 xylosyltransferase 2 IAGP
EXP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Pseudoxanthoma Elasticum, Heterozygous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 5:15,169,725...15,243,731
Ensembl chr 5:15,168,156...15,242,811 		JBrowse link
G P ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,214...28,356,706 		JBrowse link
G S Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G D ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689 		JBrowse link
G C Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chrNW_004955442:865,292...921,739
Ensembl chrNW_004955442:865,238...922,221 		JBrowse link
G R Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G M Abcc6 ATP-binding cassette, sub-family C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G H ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G H LOC125146421 Sharpr-MPRA regulatory region 15590 IAGP ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:10835643 PMID:12673275 PMID:15098239 PMID:24033266 PMID:24352041 More... NCBI chr16:16,150,332...16,150,626 JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chrNW_004624749:17,579,690...17,595,111
Ensembl chrNW_004624749:17,579,661...17,593,150 		JBrowse link
G G GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chr14:21,593,202...21,605,800
Ensembl chr14:21,593,088...21,604,885 		JBrowse link
G P GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chr 3:59,202,363...59,219,807
Ensembl chr 3:59,202,429...59,218,145 		JBrowse link
G S Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chrNW_004936712:1,696,264...1,709,087
Ensembl chrNW_004936712:1,699,750...1,709,087 		JBrowse link
G D GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chr17:39,512,293...39,525,251
Ensembl chr17:39,512,387...39,529,121 		JBrowse link
G B GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chr2A:85,599,227...85,612,274
Ensembl chr2A:87,152,111...87,164,567 		JBrowse link
G C Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... NCBI chrNW_004955424:1,926,924...1,952,635
Ensembl chrNW_004955424:1,936,772...1,952,635 		JBrowse link
G R Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... RGD:11040509 NCBI chr 4:106,027,918...106,043,653
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G M Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... RGD:11040509 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
G H GGCX gamma-glutamyl carboxylase IAGP
EXP		 DNA:mutations: :
ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9615107 PMID:16720838 PMID:17110937 PMID:17576681 More... RGD:11040509 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          pseudoxanthoma elasticum 162
            Pseudoxanthoma Elasticum, Heterozygous 10
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Hemic and Lymphatic Diseases 46557
        hematopoietic system disease 41379
          blood coagulation disease 15062
            hemorrhagic disease 14450
              vascular hemostatic disease 4998
                pseudoxanthoma elasticum 162
                  Pseudoxanthoma Elasticum, Heterozygous 10
                  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 10
paths to the root