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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:Joint Instability
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Accession:DOID:9005077 term browser browse the term
Definition:Lack of stability of a joint or joint prosthesis.
Synonyms:exact_synonym: Joint Hypermobility;   Joint Instabilities;   Joint Laxities;   joint hypermobilities;   joint laxity
 primary_id: MESH:D007593


show annotations for term's descendants           Sort by:
Joint Instability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Joint laxity ClinVar NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COMP cartilage oligomeric matrix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:9887340 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 7:29,988,656...30,027,241 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:26392352 PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SELENON selenoprotein N IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G ZNF469 zinc finger protein 469 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joint hypermobility
ClinVar Annotator: match by term: Joint laxity		 CTD
ClinVar		 PMID:18452888 PMID:25741868 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Arterial tortuosity syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29228253 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130059718 ATAC-STARR-seq lymphoblastoid silent region 7847 IAGP ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility		 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,430,596...88,430,755 JBrowse link
G LOC130059719 ATAC-STARR-seq lymphoblastoid silent region 7848 IAGP ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
ClinVar Annotator: match by term: Brittle cornea syndrome 1		 ClinVar PMID:5755738 PMID:19661234 PMID:25741868 PMID:28492532 NCBI chr16:88,437,450...88,437,599 JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: ZNF469-related condition
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
OMIM:229200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 IAGP
EXP		 ClinVar Annotator: match by term: Brittle cornea syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type
OMIM:614078
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:25741909 More... NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G LOC130000433 ATAC-STARR-seq lymphoblastoid silent region 19212 IAGP ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type ClinVar NCBI chr 8:56,993,424...56,993,983 JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION 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 CANT1 calcium activated nucleotidase 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Desbuquois syndrome
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:19853239 PMID:25741868 PMID:28492532 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:25741868 PMID:28492532 NCBI chr16:17,259,311...17,259,710 JBrowse link
G XYLT1 xylosyltransferase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION		 CTD
ClinVar		 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
Desbuquois Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625 		JBrowse link
G LOC126862302 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,404,960...17,406,159 JBrowse link
G LOC129390772 MPRA-validated peak2513 silencer IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,149,959...17,150,159 JBrowse link
G LOC130058563 ATAC-STARR-seq lymphoblastoid active region 10502 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,134,754...17,134,813 JBrowse link
G LOC130058564 ATAC-STARR-seq lymphoblastoid active region 10503 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,252,292...17,252,391 JBrowse link
G LOC130058565 ATAC-STARR-seq lymphoblastoid active region 10504 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,259,101...17,259,150 JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:25741868 PMID:26601923 PMID:28492532 PMID:31785789 NCBI chr16:17,259,311...17,259,710 JBrowse link
G LOC130058567 ATAC-STARR-seq lymphoblastoid silent region 7235 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,303,414...17,303,483 JBrowse link
G LOC130058568 ATAC-STARR-seq lymphoblastoid active region 10506 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,347,580...17,347,669 JBrowse link
G LOC130058569 ATAC-STARR-seq lymphoblastoid active region 10507 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,360,013...17,360,102 JBrowse link
G LOC130058570 ATAC-STARR-seq lymphoblastoid active region 10508 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,369,586...17,369,675 JBrowse link
G LOC130058571 ATAC-STARR-seq lymphoblastoid silent region 7236 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,376,026...17,376,095 JBrowse link
G LOC130058572 ATAC-STARR-seq lymphoblastoid active region 10509 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,462,125...17,462,174 JBrowse link
G LOC130058573 ATAC-STARR-seq lymphoblastoid active region 10510 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,468,075...17,468,144 JBrowse link
G LOC130058574 ATAC-STARR-seq lymphoblastoid active region 10511 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,469,740...17,470,009 JBrowse link
G LOC130058575 ATAC-STARR-seq lymphoblastoid active region 10512 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,470,130...17,470,179 JBrowse link
G LOC130061867 ATAC-STARR-seq lymphoblastoid silent region 9077 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:19853239 PMID:22539336 NCBI chr17:79,009,484...79,009,863 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NOMO3 NODAL modulator 3 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,232,528...16,294,811
Ensembl chr16:16,232,506...16,300,806 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2		 ClinVar PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 NCBI chr16:17,259,311...17,259,710 JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2		 ClinVar
OMIM		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GZF1 GDNF inducible zinc finger protein 1 IAGP ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,182...23,373,062 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B IAGP
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age ClinVar
OMIM		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP
EXP		 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF22 kinesin family member 22 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations		 ClinVar
OMIM		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC6B exocyst complex component 6B IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FAT4 FAT atypical cadherin 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome		 CTD
ClinVar		 PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 2
ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2		 ClinVar
OMIM		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        arthropathy 1533
          Joint Instability 71
            Achard syndrome 0
            Brittle Cornea Syndrome + 4
            Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
            Cutaneous Hemangiomatosis with Associated Features 0
            Daish Hardman Lamont Syndrome 0
            De Hauwere syndrome 2
            Desbuquois dysplasia + 25
            Familial Joint Laxity + 1
            Familial Recurrent Dislocation of Patella 0
            Hypospadias-Mental Retardation Syndrome 0
            JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
            Jaffer Beighton Syndrome 0
            Megarbane Syndrome 0
            Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 0
            Ohdo syndrome, SBBYS variant 3
            Panic Disorder with Joint Laxity 0
            Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 0
            Van Maldergem syndrome + 2
            arterial tortuosity syndrome 7
            chondrodysplasia with joint dislocations gPAPP type 2
            spondyloepimetaphyseal dysplasia with joint laxity + 7
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        connective tissue disease 7446
          bone disease 5601
            bone inflammation disease 1559
              arthropathy 1533
                Joint Instability 71
                  Achard syndrome 0
                  Brittle Cornea Syndrome + 4
                  Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
                  Cutaneous Hemangiomatosis with Associated Features 0
                  Daish Hardman Lamont Syndrome 0
                  De Hauwere syndrome 2
                  Desbuquois dysplasia + 25
                  Familial Joint Laxity + 1
                  Familial Recurrent Dislocation of Patella 0
                  Hypospadias-Mental Retardation Syndrome 0
                  JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
                  Jaffer Beighton Syndrome 0
                  Megarbane Syndrome 0
                  Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 0
                  Ohdo syndrome, SBBYS variant 3
                  Panic Disorder with Joint Laxity 0
                  Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 0
                  Van Maldergem syndrome + 2
                  arterial tortuosity syndrome 7
                  chondrodysplasia with joint dislocations gPAPP type 2
                  spondyloepimetaphyseal dysplasia with joint laxity + 7
paths to the root