Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal joint morphology
go back to main search page
Accession:HP:0001367 term browser browse the term
Definition:An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Synonyms:exact_synonym: Abnormal shape of joints;   Abnormality of the joints;   Anomaly of the joints
 related_synonym: Joint disease
 xref: MESH:D007592;   SNOMEDCT_US:399269003;   UMLS:C0022408;   UMLS:C0240083


show annotations for term's descendants           Sort by:
Abnormal joint morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO OMIM:211180 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G GHR growth hormone receptor IAGP HPO OMIM:262500 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 RGD PMID:10648455 RGD:7364930 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:156250 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO ORPHA:811 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
4-5 metacarpal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G FGF16 fibroblast growth factor 16 IAGP HPO OMIM:309630 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Abnormal acetabulum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166011 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO ORPHA:67041 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP HPO OMIM:618641 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Abnormal calcification of the carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Abnormal carpal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:85166 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G NIN ninein IAGP HPO OMIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:1225 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 ORPHA:240 ORPHA:2632 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Abnormal hip joint morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166011 ORPHA:1856 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
Abnormal patella morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Abnormal sacroiliac joint morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:22876137 RGD:7829800 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:1860 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:1807 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
Abnormal vertebral segmentation and fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO ORPHA:66637 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO ORPHA:3027 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO ORPHA:2345 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:118100 ORPHA:2345 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO ORPHA:2345 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO ORPHA:3027 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
Abnormality of lower limb joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:85164 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
Abnormality of the ankle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO ORPHA:970 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NOG noggin IAGP HPO ORPHA:1412 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO ORPHA:970 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:970 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85410 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO ORPHA:970 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Abnormality of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:158673 ORPHA:89843 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CUL7 cullin 7 IAGP HPO ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:2319 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GHR growth hormone receptor IAGP HPO ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:1486 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO ORPHA:93473 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
Abnormality of the epiphyses of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
Abnormality of the joint spaces of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
Abnormality of the knee term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 IAGP HPO ORPHA:401780 NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:158673 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614135 ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:1525 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO ORPHA:970 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:158681 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:329967 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO ORPHA:970 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:970 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:1509 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO ORPHA:970 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Abnormality of the scaphoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93321 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93321 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
Abnormality of the trapezium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93321 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93321 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
Abnormality of the wrist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:89843 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:2319 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:1529 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
Abnormality of upper limb joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH2A usherin IAGP ClinVar Annotator: match by term: Abnormality of upper limb joint ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Abnormality of upper limb joint ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		JBrowse link
Abnormally shaped carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:201250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Absent knee epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
Absent scaphoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:617247 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Accessory carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Acetabular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO OMIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO OMIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Acetabular dysplasia ClinVar PMID:8244341 PMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO OMIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO OMIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO OMIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO OMIM:618313 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP HPO OMIM:615553 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G TIMM22 translocase of inner mitochondrial membrane 22 IAGP HPO OMIM:618851 NCBI chr17:997,129...1,003,671
Ensembl chr17:997,129...1,003,671 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494 		JBrowse link
Acetabular erosions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
Acetabular spurs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO OMIM:613091 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO OMIM:615503 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO OMIM:617405 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:225500 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
Advanced ossification of carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 OMIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 OMIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO OMIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO OMIM:616831 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO OMIM:269250 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Ankle clonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:619691 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO OMIM:606854 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO ORPHA:284289 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO ORPHA:100984 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:363654 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G CAPN1 calpain 1 IAGP HPO ORPHA:488594 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP HPO OMIM:616053 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CD40LG CD40 ligand IAGP HPO OMIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO OMIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO OMIM:615681 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO OMIM:611225 OMIM:620512 ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO OMIM:612319 ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO OMIM:301058 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO OMIM:614409 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO OMIM:618397 ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G HTT huntingtin IAGP HPO OMIM:617435 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:610357 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO OMIM:611302 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO OMIM:604187 ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO OMIM:609541 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO OMIM:620106 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:620323 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO OMIM:618222 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO OMIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615398 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:612953 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:610250 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RTN2 reticulon 2 IAGP HPO OMIM:604805 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO OMIM:159550 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SELENOI selenoprotein I IAGP HPO OMIM:618768 ORPHA:506353 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO OMIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:619995 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO OMIM:618598 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SPART spartin IAGP HPO OMIM:275900 ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPAST spastin IAGP HPO ORPHA:100985 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP HPO OMIM:600224 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO OMIM:615768 ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:88644 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP HPO OMIM:301094 NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO OMIM:615491 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO OMIM:617054 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:613954 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP HPO OMIM:610244 NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907 		JBrowse link
Ankle contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO OMIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
Ankle flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO OMIM:618120 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G C18orf32 chromosome 18 open reading frame 32 IAGP HPO OMIM:619985 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:615043 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Contractures of the ankles
ClinVar Annotator: match by term: Ankle contracture		 ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:158810 ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO OMIM:613818 ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO OMIM:608799 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Ankle flexion contracture ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO OMIM:617760 ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO OMIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO OMIM:615883 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Ankle flexion contracture ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO OMIM:117000 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO OMIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO OMIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SVIL supervillin IAGP HPO OMIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO OMIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog IAGP ClinVar Annotator: match by term: Ankle flexion contracture
ClinVar Annotator: match by term: Ankle contracture		 ClinVar PMID:35321494 NCBI chr 3:11,721,896...11,846,885
Ensembl chr 3:11,790,442...11,846,919 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO OMIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO OMIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
Ankle swelling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 IAGP HPO ORPHA:79452 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP HPO ORPHA:79452 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO ORPHA:79452 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO ORPHA:79452 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
Antecubital pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO OMIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:616489 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO OMIM:616258 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:618469 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
Anterior radial head dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO OMIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
Anterior vertebral fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Anterolateral radial head dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
Aplasia/Hypoplasia involving the carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Aplasia/Hypoplasia of the patella term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP HPO OMIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO ORPHA:1149 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:200700 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:266280 ORPHA:1225 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:1509 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
Arthralgia/arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule IAGP DNA:SNP:promoter:-336A>G SNP (rs4804803) (human) RGD PMID:24797508 RGD:39939060 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO OMIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO OMIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:21285172 RGD:5684422 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G AP1S3 adaptor related protein complex 1 subunit sigma 3 IAGP HPO ORPHA:247353 NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO OMIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COPA COPI coat complex subunit alpha IAGP HPO OMIM:616414 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:152700 OMIM:616100 ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO OMIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO OMIM:613217 ORPHA:92050 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb susceptibility IAGP DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A
DNA:snp:promoter:g.-386G>C (rs3219018)		 HPO
RGD		 PMID:15153543 PMID:15895258 OMIM:152700 ORPHA:536, RGD:1547879, RGD:1547880 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO OMIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO OMIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:29207 ORPHA:3287 ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-C major histocompatibility complex, class I, C IAGP HPO OMIM:177900 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms, haplotypes:multiple HPO
RGD		 PMID:17559688 OMIM:181000 ORPHA:220393 ORPHA:397 ORPHA:536 ORPHA:85414, RGD:5147792 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HOXD10 homeobox D10 IAGP HPO OMIM:192950 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO OMIM:259100 ORPHA:1525 ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:polymorphism:exon:g.14709C>T (rs315952) RGD PMID:17176440 RGD:6907356 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO ORPHA:247353 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO OMIM:613328 ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LBR lamin B receptor IAGP HPO ORPHA:779 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC129930561 ATAC-STARR-seq lymphoblastoid silent region 902 IAGP ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More...
G LRBA LPS responsive beige-like anchor protein IAGP HPO OMIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:249100 ORPHA:117 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:260920 ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP HPO ORPHA:397744 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO OMIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:120100 OMIM:607115 OMIM:617772 ORPHA:47045 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP DNA:snp:cds:p.E383G
DNA:snps:cds:p.R587C, p.C495Y, p.W490L
DNA:snps:cds:p.R334Q, p.R334W, p.L469F		 HPO
RGD		 PMID:19116920 PMID:19479837 PMID:11528384 OMIM:186580 OMIM:617321, RGD:8158051, RGD:8547518, RGD:8158040 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP HPO ORPHA:92050 NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:613328 ORPHA:221139 ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:33110 ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO OMIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:411536 ORPHA:411543 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO OMIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO OMIM:617591 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO OMIM:604416 ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) HPO
RGD		 PMID:23950893 OMIM:152700 ORPHA:397 ORPHA:536 ORPHA:85408 ORPHA:85410, RGD:11533999 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO OMIM:601457 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO OMIM:601457 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO ORPHA:33110 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO ORPHA:33110 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 ORPHA:536 ORPHA:85408 ORPHA:85410 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Arthritis ClinVar
HPO		 PMID:25741868 PMID:33782605 OMIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO ORPHA:33110 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TF transferrin IAGP HPO ORPHA:1195 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G TFR2 transferrin receptor 2 IAGP HPO OMIM:604250 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO OMIM:619825 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:152700 ORPHA:51 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO OMIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:146300 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO OMIM:118600 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:604841 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:nonsense mutation:exon:p.R732X HPO
RGD		 PMID:1677770 OMIM:108300 ORPHA:485, RGD:13524555 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO OMIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO OMIM:259100 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:618523 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO OMIM:277950 ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NGF nerve growth factor IAGP HPO OMIM:608654 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO OMIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO OMIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606835 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Axillary pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO OMIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO OMIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO OMIM:226730 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G PLEC plectin IAGP HPO OMIM:226730 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
Bilateral camptodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO OMIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP HPO OMIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP HPO OMIM:619557 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		JBrowse link
Bilateral elbow dislocations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
Bilateral wrist flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
Block vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL3 delta like canonical Notch ligand 3 IAGP HPO OMIM:277300 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO OMIM:613686 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO OMIM:277300 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO OMIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Broad carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
C1-C2 subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:184250 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
C2-C3 subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Calcaneonavicular fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:123150 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:123150 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Camptodactyly of 2nd-5th fingers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Camptodactyly of 2nd-5th fingers ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Camptodactyly of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP HPO ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO OMIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2176 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO OMIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO ORPHA:1545 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:2021 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:2021 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:158810 ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO ORPHA:1545 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CUL4B cullin 4B IAGP HPO ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EED embryonic ectoderm development IAGP HPO ORPHA:3447 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:610756 ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:85164 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:300244 OMIM:305620 ORPHA:1826 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 ORPHA:93404 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO OMIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607015 ORPHA:93473 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:604320 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO ORPHA:2466 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO OMIM:226650 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93405 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:614399 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-TA mitochondrially encoded tRNA-Ala (GCN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,587...5,655
Ensembl chr MT:5,587...5,655 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TD mitochondrially encoded tRNA-Asp (GAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585 		JBrowse link
G MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TM mitochondrially encoded tRNA-Met (AUA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,402...4,469
Ensembl chr MT:4,402...4,469 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:208150 ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO ORPHA:1146 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:1146 ORPHA:2053 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1146 ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO OMIM:186580 ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:148820 ORPHA:1529 ORPHA:896 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:114300 ORPHA:2461 ORPHA:376 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ClinVar Annotator: match by term: Camptodactyly of hands
ClinVar Annotator: match by term: Camptodactyly of finger		 ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:619420 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93405 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP HPO OMIM:615553 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO OMIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:284984 ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP HPO ORPHA:1658 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO OMIM:619323 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP HPO ORPHA:1617 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase IAGP HPO OMIM:600627 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO OMIM:601680 ORPHA:1146 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1146 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO OMIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1146 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:2635 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO OMIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Capitate-hamate fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP HPO OMIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP DNA:mutation:exon:c.1678G>T(human) HPO
RGD		 PMID:29229899 OMIM:225500 ORPHA:289, RGD:155260290 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:602849 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Carpal bone aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:200500 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Carpal bone hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:601162 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 OMIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO OMIM:616723 ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184252 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Carpal osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B IAGP ClinVar Annotator: match by term: Carpal osteolysis ClinVar
HPO		 OMIM:166300 ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO OMIM:277950 ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
Carpal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 OMIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO OMIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO OMIM:608180 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:53271 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:186500 OMIM:186570 OMIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:148820 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Cervical C2/C3 vertebral fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO OMIM:618000 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO OMIM:616368 ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO OMIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO OMIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO OMIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CDH11 cadherin 11 IAGP HPO OMIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO ORPHA:2345 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP ClinVar Annotator: match by term: Klippel Feil syndrome
ClinVar Annotator: match by term: Cervical C2/C3 vertebral fusion		 ClinVar
HPO		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... OMIM:118100 ORPHA:2345 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO OMIM:214300 ORPHA:2345 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MYO18B myosin XVIIIB IAGP ClinVar Annotator: match by term: Klippel Feil syndrome ClinVar
HPO		 PMID:25741868 OMIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
Cervical C3/C4 vertebral fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 IAGP HPO OMIM:613702 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
Cervical C5/C6 vertebrae fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO OMIM:613702 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
Cervical subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
Chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:146300 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
HPO		 ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO OMIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99879 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO OMIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO OMIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC129993725 ATAC-STARR-seq lymphoblastoid silent region 15944 IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:329967 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Claw hand deformity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO OMIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:614455 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO OMIM:601455 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO OMIM:605726 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
Congenital bilateral hip dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLTCL1 clathrin heavy chain like 1 IAGP HPO ORPHA:453510 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO ORPHA:404451 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G SHROOM4 shroom family member 4 IAGP HPO ORPHA:85288 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
Congenital finger flexion contractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 ORPHA:1154 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO OMIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Congenital finger contractures ClinVar PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
Congenital hip dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO OMIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:219150 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO OMIM:100100 ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO OMIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO OMIM:130010 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Congenital hip dislocation ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CUL7 cullin 7 IAGP HPO ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO OMIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO OMIM:113650 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:304120 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO OMIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO OMIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:606170 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO OMIM:600373 ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO OMIM:236700 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:217385 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO OMIM:616355 ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:612940 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Congenital hip dislocation ClinVar
HPO		 PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... OMIM:117000 ORPHA:597 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO OMIM:113650 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO OMIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO OMIM:255310 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO OMIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP HPO ORPHA:217385 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO OMIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO OMIM:229200 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Congenital knee dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:319332 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
Contracture of the distal interphalangeal joint of the 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
Contracture of the distal interphalangeal joint of the fingers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO OMIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO OMIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
Contracture of the proximal interphalangeal joint of the 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:609813 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO OMIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO OMIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
Contracture of the proximal interphalangeal joint of the 3rd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO OMIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO OMIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
Contracture of the proximal interphalangeal joint of the 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO OMIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO OMIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TLK2 tousled like kinase 2 IAGP HPO OMIM:618050 NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481 		JBrowse link
Contracture of the proximal interphalangeal joint of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO OMIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186000 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO OMIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
Crowded carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 IAGP HPO OMIM:102500 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
Cubitus valgus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase IAGP HPO OMIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 OMIM:163950 OMIM:613706 OMIM:613707 ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO OMIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO OMIM:610313 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CUL4B cullin 4B IAGP HPO ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO OMIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO OMIM:620072 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO OMIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:605275 OMIM:616564 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO OMIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:601321 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NOG noggin IAGP HPO OMIM:186500 OMIM:186570 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:618348 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO OMIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO OMIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 OMIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO OMIM:611553 OMIM:611554 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO OMIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO OMIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO OMIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO OMIM:610733 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO OMIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO OMIM:620237 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Delayed ossification of carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO OMIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO OMIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO OMIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO OMIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO OMIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:607078 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 IAGP HPO OMIM:618392 NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO OMIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Delayed patellar ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Dislocated radial head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO OMIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO OMIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CD96 CD96 molecule IAGP HPO OMIM:211750 ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO OMIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO OMIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO OMIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 OMIM:311300 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GSC goosecoid homeobox IAGP HPO OMIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO OMIM:304100 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:102500 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO OMIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO OMIM:136140 ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Dislocated radial head ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Dislocated radial head ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO OMIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Dislocated wrist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Dislocation of the femoral head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 IAGP HPO OMIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
Dislocation of toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
Distal symphalangism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin IAGP HPO OMIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
Distal symphalangism of hands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93388 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93388 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 ORPHA:93388 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:186570 OMIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) RGD PMID:23238279 RGD:11537345 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
Distal tibial bowing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Distal tibiofibular synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:200700 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Distal/middle symphalangism of 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2B transcription factor AP-2 beta IAGP HPO OMIM:169100 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
Double-layered patella term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166011 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP associated with Epiphyseal Dysplasia, Multiple, 4;DNA:mutation:exon:1984T>A(p.C653S)(human) HPO
RGD		 PMID:12966518 OMIM:226900 ORPHA:93307, RGD:13208930 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Dupuytren contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A IAGP HPO ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
Dysplastic patella term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
Elbow ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:101600 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:missense mutations:cds:multiple HPO
RGD		 PMID:10633130 OMIM:101600, RGD:12801485 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Elbow dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 OMIM:108721 OMIM:150250 ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:201250 ORPHA:3250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GPC6 glypican 6 IAGP HPO ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP HPO ORPHA:1275 NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO ORPHA:1275 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Elbow flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447757 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Elbow flexion contracture ClinVar
HPO		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:610 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:158810 ORPHA:610 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO OMIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 OMIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EMD emerin IAGP HPO OMIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:184900 OMIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO OMIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO OMIM:148210 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GLDN gliomedin IAGP HPO OMIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO OMIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO OMIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:10080180 OMIM:181350 OMIM:248370 OMIM:616516 ORPHA:98853 ORPHA:98855, RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO OMIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO OMIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO OMIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO OMIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO OMIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 OMIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO OMIM:618022 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Fixed flexion at the elbow joint ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:619303 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO OMIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO OMIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO OMIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SVIL supervillin IAGP HPO OMIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO OMIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO OMIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,145...27,336,400 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO OMIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184252 OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Enlarged interphalangeal joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
Enlarged joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO OMIM:215150 ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:156550 ORPHA:485 ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:607131 ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:601358 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 OMIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Enlarged proximal interphalangeal joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
Enlargement of the ankles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO OMIM:264700 ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO OMIM:600081 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO OMIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G VDR vitamin D receptor IAGP HPO OMIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Enlargement of the wrists term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO ORPHA:83629 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO OMIM:264700 ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO OMIM:600081 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO OMIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G VDR vitamin D receptor IAGP HPO OMIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Femoroacetabular impingement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
Finger joint contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:212112 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
Finger symphalangism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
Fixed elbow flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
Flat acetabular roof term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO OMIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 OMIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO OMIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:151210 OMIM:271700 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108721 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO OMIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO OMIM:617102 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO OMIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO OMIM:619345 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:608728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO OMIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:256050 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO OMIM:269250 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 OMIM:184252 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Flattened knee epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
Flexion contracture of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO OMIM:609033 ORPHA:88628 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1010 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLDN gliomedin IAGP HPO OMIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SVIL supervillin IAGP HPO OMIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO OMIM:618484 ORPHA:319332 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
Fused cervical vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO OMIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:238722 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G DNAL4 dynein axonemal light chain 4 IAGP HPO ORPHA:238722 NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FANCI FA complementation group I IAGP HPO OMIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO OMIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP DNA:missense mutations, deletions:CDS:multiple HPO
RGD		 PMID:27426734 OMIM:157800 OMIM:617137 ORPHA:1826, RGD:11552967 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO OMIM:214300 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:618469 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NOG noggin IAGP HPO OMIM:184460 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NTN1 netrin 1 IAGP HPO ORPHA:238722 NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:238722 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO OMIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
Fused thoracic vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:618469 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
Fusion of middle ear ossicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO OMIM:613717 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
Genu recurvatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO OMIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CFL2 cofilin 2 IAGP HPO OMIM:610687 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:225320 ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO OMIM:604168 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO OMIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO ORPHA:578 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO OMIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G WASF1 WASP family member 1 IAGP HPO OMIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Genu valgum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:608361 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO OMIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSK arylsulfatase family member K IAGP HPO OMIM:619698 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO OMIM:304150 ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO OMIM:616202 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO OMIM:617798 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO OMIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CENPT centromere protein T IAGP HPO OMIM:618702 NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:132450 OMIM:184250 ORPHA:166011 ORPHA:85198 ORPHA:93315 ORPHA:93316 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614134 ORPHA:166002 ORPHA:250984 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 OMIM:177170 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Genu valgum ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO OMIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 OMIM:607326 ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:613312 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:225500 ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO OMIM:133700 ORPHA:321 ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO OMIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 OMIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GAN gigaxonin IAGP HPO ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO OMIM:618123 ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G H3-3B H3.3 histone B IAGP HPO OMIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO OMIM:620072 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO OMIM:614880 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616007 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607016 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO OMIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:607131 ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO OMIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO OMIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:607078 ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO ORPHA:65759 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:250400 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MPZ myelin protein zero IAGP HPO ORPHA:3115 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTX2 metaxin 2 IAGP HPO OMIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171436 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO OMIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:162200 ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO OMIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:102500 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO OMIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO OMIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:3115 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO OMIM:619142 ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO OMIM:619143 ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO OMIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 ORPHA:65759 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611560 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO OMIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 ORPHA:56304 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO OMIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G SPART spartin IAGP HPO ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO OMIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO OMIM:616145 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO OMIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 OMIM:168400 OMIM:184095 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP HPO OMIM:618744 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562 		JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO OMIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO OMIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
Genu varum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:608361 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G BGN biglycan IAGP HPO OMIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 OMIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:156550 OMIM:184255 ORPHA:85166 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP HPO OMIM:619073 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO OMIM:602557 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 OMIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO OMIM:617941 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:613312 ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:100800 OMIM:146000 ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FN1 fibronectin 1 IAGP HPO OMIM:184255 ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Genu varum ClinVar PMID:10984309 PMID:25741868 PMID:28492532 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:607778 ORPHA:63446 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO OMIM:619451 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:602111 ORPHA:2501 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO OMIM:613073 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171436 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO OMIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO OMIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:250460 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO OMIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP DNA:duplication:exon:g.2061_2081dup RGD PMID:20335586 RGD:7242923 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTI1 TELO2 interacting protein 1 IAGP HPO OMIM:620445 NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO OMIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 IAGP HPO ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO OMIM:618061 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP HPO OMIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO OMIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO ORPHA:510 ORPHA:79233 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO OMIM:610947 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G MUC1 mucin 1, cell surface associated IAGP HPO OMIM:174000 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G PFKM phosphofructokinase, muscle IAGP HPO OMIM:232800 NCBI chr12:48,105,353...48,146,404
Ensembl chr12:48,105,139...48,146,404 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO OMIM:300661 ORPHA:411543 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO OMIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232220 OMIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G UMOD uromodulin IAGP HPO OMIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
Heberden's node term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:604864 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:140600 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
Hip contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:156550 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:619042 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:606170 ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:613205 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO OMIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO OMIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO OMIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 OMIM:616651 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Hip flexion contractures ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 OMIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO OMIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO OMIM:615959 ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:605355 OMIM:620386 ORPHA:98902 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO ORPHA:169186 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO OMIM:616801 ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Hip dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:616339 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO OMIM:618000 ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:219150 OMIM:616603 ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO OMIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO ORPHA:3197 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO OMIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 OMIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO OMIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CD96 CD96 molecule IAGP HPO OMIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP HPO ORPHA:572013 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO OMIM:616471 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:617821 ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO OMIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:156550 OMIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO OMIM:265050 ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO OMIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CUL7 cullin 7 IAGP HPO OMIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO OMIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO ORPHA:101003 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO OMIM:614678 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:309350 OMIM:311300 ORPHA:2484 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:201250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP HPO OMIM:149400 ORPHA:3197 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP HPO ORPHA:3197 NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO ORPHA:2078 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPHN gephyrin IAGP HPO OMIM:149400 ORPHA:3197 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GSC goosecoid homeobox IAGP HPO OMIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO OMIM:616756 ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO OMIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO OMIM:300322 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616007 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:618523 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO ORPHA:559 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:300867 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO OMIM:619451 ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO OMIM:619345 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO ORPHA:572013 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO OMIM:158300 ORPHA:3377 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171436 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO OMIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO OMIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO OMIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:613156 ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO OMIM:616263 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO OMIM:615583 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:614438 ORPHA:2078 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 OMIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP HPO OMIM:620310 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO OMIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO OMIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO OMIM:619083 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP HPO OMIM:615553 ORPHA:370943 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO ORPHA:3197 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO OMIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO OMIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO OMIM:618435 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO OMIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO OMIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO OMIM:619959 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 OMIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Hip joint hypermobility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Hip osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO OMIM:166600 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association
susceptibility		 IAGP DNA:SNP:intron:g.2046G>T RGD PMID:9811048 PMID:15880349 RGD:5688330, RGD:5688306 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:604864 OMIM:619248 ORPHA:86820 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:SNP:intron:g.-397T>C RGD PMID:17419075 RGD:10045661 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FRZB frizzled related protein IAGP HPO OMIM:165720 NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP ClinVar Annotator: match by term: Osteoarthritis of hip ClinVar
HPO		 PMID:17384641 PMID:28492532 ORPHA:63442 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GHR growth hormone receptor IAGP associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO OMIM:106300 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL4R interleukin 4 receptor no_association
susceptibility		 IAGP DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016)
DNA:SNPs:multiple		 RGD PMID:19036616 PMID:14745651 RGD:10402784, RGD:10402782 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Osteoarthritis of hip ClinVar PMID:17384641 PMID:28492532 NCBI chr20:35,437,929...35,438,683 JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO OMIM:313400 ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:86820 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Hip subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO OMIM:615546 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO OMIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G LMNB2 lamin B2 IAGP HPO OMIM:619180 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO OMIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO OMIM:300957 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP HPO OMIM:619557 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		JBrowse link
Humeroradial synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO OMIM:614416 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO OMIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:101600 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 OMIM:101600 OMIM:207410 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO OMIM:186570 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 OMIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Hyperextensibility of the knee term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
Hypoplastic acetabulae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:607326 ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230650 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
Increased carrying angle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPHL1 hephaestin like 1 IAGP HPO OMIM:261990 NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 OMIM:249700 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
Increased laxity of ankles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
Intercrural pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO OMIM:119500 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
Interphalangeal joint contracture of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:2199 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2199 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT9 keratin 9 IAGP HPO ORPHA:2199 NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
Interphalangeal thumb joint contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 IAGP HPO OMIM:613870 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
Irregular acetabular roof term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSK arylsulfatase family member K IAGP HPO OMIM:619698 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Irregular carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
Joint contracture of the 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
Joint contracture of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO OMIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO OMIM:619562 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO OMIM:300799 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
Joint contracture of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO OMIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO OMIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO OMIM:601110 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220402 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO OMIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220402 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220402 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CDH3 cadherin 3 IAGP HPO OMIM:225280 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CNTN1 contactin 1 IAGP HPO OMIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:228520 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO OMIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO OMIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220402 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:610099 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Joint contracture of the hand ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:618523 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220402 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO OMIM:614335 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:309800 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:148820 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO OMIM:611067 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:113000 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO OMIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G TP63 tumor protein p63 IAGP HPO OMIM:603543 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO OMIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
Joint dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO ORPHA:3197 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BGN biglycan IAGP HPO OMIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G C1R complement C1r IAGP HPO OMIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1S complement C1s IAGP HPO OMIM:617174 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CD96 CD96 molecule IAGP HPO ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:253290 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO OMIM:601776 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:619120 ORPHA:1899 ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:2380 ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Joint dislocation HPO
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28914264 OMIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CUL7 cullin 7 IAGP HPO OMIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP HPO OMIM:606220 NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195 		JBrowse link
G FLNB filamin B IAGP DNA:mutations:cds: HPO
RGD		 PMID:27048506 ORPHA:1190, RGD:12791024 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP HPO ORPHA:3197 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP HPO ORPHA:3197 NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin IAGP HPO ORPHA:3197 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO OMIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:266280 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO ORPHA:3197 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO OMIM:300934 ORPHA:370927 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO OMIM:616145 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:370930 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Joint hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X IAGP HPO OMIM:227600 ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529 		JBrowse link
G F11 coagulation factor XI IAGP HPO ORPHA:329 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO OMIM:613225 ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO OMIM:613679 ORPHA:325 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F7 coagulation factor VII IAGP HPO OMIM:227500 ORPHA:327 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G F8 coagulation factor VIII IAGP HPO OMIM:306700 ORPHA:169802 ORPHA:169805 ORPHA:177926 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F9 coagulation factor IX IAGP HPO OMIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459 		JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO OMIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO OMIM:601709 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SERPINF2 serpin family F member 2 IAGP HPO OMIM:262850 ORPHA:79 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265 		JBrowse link
G VWF von Willebrand factor IAGP HPO OMIM:193400 OMIM:277480 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO OMIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Joint subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:617821 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO OMIM:616298 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,208 		JBrowse link
G TNXB tenascin XB IAGP HPO OMIM:606408 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
Joint swelling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:12739037 RGD:5684893 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CD244 CD244 molecule IAGP HPO OMIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:668 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO OMIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO ORPHA:98880 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FGB fibrinogen beta chain IAGP HPO ORPHA:98880 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain IAGP HPO ORPHA:98880 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphisms:cds:multiple HPO
RGD		 PMID:10648455 ORPHA:29207, RGD:7364930 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:1525 ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IL10 interleukin 10 IAGP HPO OMIM:180300 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO OMIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LPIN2 lipin 2 IAGP HPO OMIM:609628 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase no_association IAGP DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618)		 RGD PMID:20676650 PMID:22505706 RGD:9588977, RGD:9588978 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:329967 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutations:cds:multiple RGD PMID:15987486 RGD:5490238 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP DNA:snp:promoter:c.-132T>A (rs2071592) HPO
RGD		 PMID:12509789 OMIM:180300, RGD:1331681 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO OMIM:186580 ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP HPO OMIM:617099 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:180300 ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:668 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP HPO OMIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Joint swelling ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:33782605 OMIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:668 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Juvenile rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:275 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
Knee contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G COX11 cytochrome c oxidase copper chaperone COX11 IAGP HPO OMIM:620275 NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Knee dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO OMIM:618000 ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 OMIM:108721 OMIM:150250 ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:178145 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP HPO OMIM:615553 ORPHA:370943 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Knee flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:616228 ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO OMIM:616681 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO OMIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO OMIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:615043 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CFL2 cofilin 2 IAGP HPO OMIM:610687 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO OMIM:616313 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO OMIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO OMIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DMD dystrophin IAGP HPO OMIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO OMIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G EMD emerin IAGP HPO OMIM:310300 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO ORPHA:401785 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:184900 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP DNA:deletion:cds:c.4904_4912del (human) HPO
RGD		 PMID:15654694 OMIM:305620, RGD:11565126 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO OMIM:148210 ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:353327 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple HPO
RGD		 PMID:22265017 OMIM:606170 ORPHA:85201, RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO OMIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO OMIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYO9A myosin IXA IAGP HPO OMIM:618198 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO OMIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO OMIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:616531 OMIM:619621 OMIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO OMIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO OMIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO OMIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Flexion contractures at both knees ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Flexion contractures at both knees ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO OMIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO OMIM:617239 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:619303 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO OMIM:616330 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO OMIM:612713 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STX5 syntaxin 5 IAGP HPO OMIM:620454 NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051 		JBrowse link
G SVIL supervillin IAGP HPO OMIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO OMIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO OMIM:615490 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO OMIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
Knee joint hypermobility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:329967 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
Knee osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G AR androgen receptor IAGP DNA:repeat:exon:c.172(CAG)8-34 RGD PMID:16098017 RGD:10043199 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:604864 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 no_association IAGP DNA:SNP:5' utr: (rs17039192)
DNA:SNP:5' utr: (rs17039192) 		RGD PMID:20495570 PMID:22247019 RGD:10395368, RGD:10395367 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:polymorphisms, haplotype:intron, exon
DNA:repeat:promoter:-1174(TA)9-25
DNA:SNPs:intron: (rs2234693, rs9340799)
DNA:SNP:cds:c.1782G>A (rs2228480) 		RGD PMID:15380041 PMID:16098017 PMID:24772413 PMID:20128071 RGD:10045840, RGD:10043199, RGD:10045829, RGD:10045835 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 IAGP DNA:repeat:intron:c.1092+3607(CA)13-27 RGD PMID:16098017 RGD:10043199 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL4 interleukin 4 susceptibility IAGP DNA:repeat:intron: (rs8179190) RGD PMID:24406619 RGD:10402787 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Large elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
Large joint dislocations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Large knee term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO ORPHA:83629 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO OMIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
Lateral displacement of patellae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Limitation of knee mobility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO OMIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO OMIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
Limitation of movement at ankles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:100988 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:98794 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Limited elbow extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO OMIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO OMIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BGN biglycan IAGP HPO OMIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO OMIM:610313 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO OMIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:271700 ORPHA:1856 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO OMIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:123790 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:100800 OMIM:146000 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:309350 OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP HPO OMIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO OMIM:300882 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO OMIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO OMIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:608728 ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:602111 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G PCNT pericentrin IAGP HPO OMIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO OMIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:250250 OMIM:607095 ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO OMIM:616723 ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO OMIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO OMIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase IAGP HPO OMIM:600627 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Limited elbow extension and supination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO OMIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Limited elbow flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:226900 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Limited elbow flexion/extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
Limited elbow movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP HPO OMIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:183900 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO OMIM:265050 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO OMIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:300590 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO OMIM:610759 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Limited knee extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:36387 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO OMIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO OMIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP HPO ORPHA:33069 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:36387 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:36387 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G PCDH19 protocadherin 19 IAGP HPO ORPHA:33069 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G STX1B syntaxin 1B IAGP HPO ORPHA:36387 NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,638 		JBrowse link
Limited knee flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Limited knee flexion/extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
Limited pronation/supination of forearm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC10 collectin subfamily member 10 IAGP HPO ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO OMIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO OMIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO OMIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO OMIM:620019 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO OMIM:179300 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
Limited wrist extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
Limited wrist movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO OMIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Lower extremity joint dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
Madelung deformity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COG4 component of oligomeric golgi complex 4 IAGP HPO OMIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G NIN ninein IAGP HPO OMIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 OMIM:249700 ORPHA:240 ORPHA:2632 ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
Malaligned carpal bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:228900 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Metacarpal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:157801 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO OMIM:608180 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO OMIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:35099 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO OMIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO ORPHA:35099 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:35099 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO ORPHA:35099 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
Metacarpophalangeal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Metatarsal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 IAGP HPO OMIM:608180 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO OMIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO OMIM:107480 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Multiple carpal ossification centers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Multiple joint dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GZF1 GDNF inducible zinc finger protein 1 IAGP HPO OMIM:617662 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,182...23,373,062 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
Multiple pterygia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:253290 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
Narrow joint spaces of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRB10 growth factor receptor bound protein 10 IAGP HPO ORPHA:96182 NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462 		JBrowse link
Neck pterygia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G IRX5 iroquois homeobox 5 IAGP HPO OMIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
Neuropathic arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP HPO ORPHA:36386 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP HPO OMIM:615632 ORPHA:36386 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO OMIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO OMIM:256800 ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:36386 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO ORPHA:36386 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
Oligoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO OMIM:106300 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO OMIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO OMIM:142680 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO OMIM:619510 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO ORPHA:435804 ORPHA:93283 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 IAGP DNA:missense mutation:cds: (rs4747096) RGD PMID:18790654 RGD:6771189 NCBI chr10:70,672,506...70,762,441
Ensembl chr10:70,672,506...70,762,441 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 no_association IAGP DNA:missense mutations:exon: (rs226794, rs2830585)
DNA:missense mutation:exon:p.R614H		 RGD PMID:18240210 PMID:22961118 RGD:10043105, RGD:10043102 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO OMIM:618000 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO OMIM:118600 ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ASPN asporin IAGP HPO OMIM:607850 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO OMIM:208230 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association IAGP DNA:SNP:intron:IVS1 HPO
RGD		 PMID:10743824 ORPHA:287, RGD:5688331 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31755234 OMIM:108300 ORPHA:166011 ORPHA:166100 ORPHA:85198 ORPHA:90653 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:130000 ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614135 ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO OMIM:620080 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:SNP:intron: (rs2234693)
DNA:SNPs:introns: (rs2234693, rs9340799)		 RGD PMID:20417295 PMID:19884274 RGD:10045662, RGD:10045830 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 IAGP DNA:SNP:intron: (rs1256031) RGD PMID:19884274 RGD:10045830 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G F8 coagulation factor VIII IAGP HPO OMIM:306700 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F9 coagulation factor IX IAGP HPO OMIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FRZB frizzled related protein IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar PMID:15210948 PMID:25741868 NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GHR growth hormone receptor IAGP DNA:deletion:exon: HPO
RGD		 PMID:23740230 ORPHA:633, RGD:10003113 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:2762 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:1525 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:140600 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:602111 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NGF nerve growth factor IAGP HPO OMIM:608654 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO OMIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO OMIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TLR8 toll like receptor 8 IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TLR8-AS1 TLR8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:12,902,817...12,943,300
Ensembl chr  X:12,902,817...12,908,333 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO OMIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:142669 ORPHA:2114 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF687 zinc finger protein 687 IAGP HPO OMIM:616833 NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176 		JBrowse link
Osteoarthritis of the distal interphalangeal joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin IAGP HPO OMIM:607850 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Osteoarthritis of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
Osteoarthritis of the first carpometacarpal joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin IAGP HPO OMIM:607850 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
Osteoarthritis of the small joints of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 no_association IAGP DNA:SNPs:exons: (rs2077647, rs1801132) RGD PMID:19884274 RGD:10045830 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 no_association IAGP DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) RGD PMID:19884274 RGD:10045830 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G IL4 interleukin 4 no_association IAGP DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL4R interleukin 4 receptor no_association IAGP DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:85169 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Osteochondritis dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP ClinVar Annotator: match by term: Osteochondritis dissecans
ClinVar Annotator: match by term: Osteochondrosis dissecans		 ClinVar
HPO		 PMID:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:27870580 More... OMIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:250400 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
Osteochondrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
Partial fusion of carpals term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
Partial fusion of tarsals term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
Patellar aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO OMIM:616835 ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple HPO
RGD		 PMID:22265017 OMIM:606170 ORPHA:85201, RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:135750 ORPHA:988 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO OMIM:613800 ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:988 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Patellar dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARF1 ADP ribosylation factor 1 IAGP HPO ORPHA:98892 NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP HPO ORPHA:98892 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO OMIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:98892 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:98892 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:228900 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:603736 OMIM:606170 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP HPO ORPHA:98892 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO ORPHA:98892 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO OMIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO ORPHA:98892 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 IAGP HPO OMIM:309610 NCBI chr  X:54,192,823...54,358,900
Ensembl chr  X:54,192,823...54,358,642 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO OMIM:617557 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Patellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G FLNB filamin B IAGP ClinVar Annotator: match by term: Patellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31836586 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP HPO OMIM:619189 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Patellar overgrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:607115 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
Patellar subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:615879 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO OMIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 IAGP HPO OMIM:309610 NCBI chr  X:54,192,823...54,358,900
Ensembl chr  X:54,192,823...54,358,642 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Periarticular soft-tissue mass term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
Phalangeal dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
Plantar flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
Podagra term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO OMIM:300322 OMIM:300323 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
Polyarticular arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD244 CD244 molecule IAGP HPO OMIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO OMIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Polyarticular arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G IL10 interleukin 10 IAGP HPO OMIM:180300 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO OMIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G LOC129930561 ATAC-STARR-seq lymphoblastoid silent region 902 IAGP ClinVar Annotator: match by term: Polyarticular arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More...
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:134610 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP HPO OMIM:180300 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO OMIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:191900 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:180300 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP HPO OMIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO OMIM:616744 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO OMIM:142680 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
Polyarticular arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
Polyarticular chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO OMIM:118600 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
Popliteal pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO OMIM:119500 ORPHA:1300 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 ORPHA:1234 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
Popliteal synovial cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
Premature osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO OMIM:184840 OMIM:215150 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:mutations:cds:p.G204A,p.G393S(human) RGD PMID:20131279 RGD:11667104 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:607078 ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Progressive cervical vertebral spine fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO OMIM:135100 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
Progressive joint destruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
Protrusio acetabuli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO OMIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Protrusio acetabuli ClinVar
HPO		 PMID:25741868 OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 OMIM:610968 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO OMIM:613982 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO OMIM:614816 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
Proximal radio-ulnar synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:794 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO OMIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
Proximal symphalangism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Proximal symphalangism of hands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:186570 OMIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
Proximal tibial and fibular fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
Proximal/middle symphalangism of 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Proximal/middle symphalangism of 4th toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Proximal/middle symphalangism of 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO OMIM:609432 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:615298 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) HPO
RGD		 PMID:16151340 OMIM:184460 OMIM:186500, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
Proximal/middle symphalangism of 5th toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK3 alpha kinase 3 IAGP HPO OMIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO OMIM:259450 ORPHA:2771 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO OMIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G GPC6 glypican 6 IAGP HPO ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:224410 ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO ORPHA:79403 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,427,354...172,506,459 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:79403 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO OMIM:224230 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO OMIM:224230 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO OMIM:609220 ORPHA:2771 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621 		JBrowse link
Radial head subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO OMIM:601390 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Radioulnar synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:300166 ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO OMIM:248340 ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO OMIM:265050 ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:2319 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101400 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO ORPHA:71289 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:606170 ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO OMIM:212780 ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO OMIM:601088 ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO OMIM:257920 ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP ClinVar Annotator: match by term: Radioulnar synostosis ClinVar
HPO		 OMIM:616738 ORPHA:71289 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:248700 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:614701 ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO OMIM:614900 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 ORPHA:2307 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO OMIM:154400 ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Radioulnar synostosis ClinVar
HPO		 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:28991257 More... OMIM:179300 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBX22 T-box transcription factor 22 IAGP HPO OMIM:302905 ORPHA:921 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:392 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Recurrent joint dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:frameshift mutations, missense mutations:CDS:multiple HPO
RGD		 PMID:26373698 ORPHA:2953, RGD:11061906 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 HPO OMIM:619115 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO OMIM:130010 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
Recurrent mandibular subluxations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO OMIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
Recurrent patellar dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G MAB21L2 mab-21 like 2 IAGP HPO OMIM:615877 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO OMIM:619143 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:178145 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Recurrent shoulder dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:212112 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
Rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237 		JBrowse link
G CD244 CD244 molecule IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:18794858 OMIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:23261301 PMID:25741868 PMID:28492532 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:15821736 PMID:15897313 PMID:16849401 PMID:25741868 PMID:28492532 OMIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:180300 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85410 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LOC128462409 CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,772,123...206,772,744 JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:12509789 OMIM:180300 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PADI2 peptidyl arginine deiminase 2 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 1:17,066,761...17,119,451
Ensembl chr 1:17,066,761...17,119,451 		JBrowse link
G PADI4 peptidyl arginine deiminase 4 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:25741868 NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85410 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... OMIM:180300 ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar
HPO		 PMID:14608356 OMIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85410 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G SUPT20H SPT20 homolog, SAGA complex component IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr13:37,009,312...37,059,688
Ensembl chr13:37,009,312...37,059,713 		JBrowse link
G TLR1 toll like receptor 1 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:32594150 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
Sacroiliac arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphisms:cds:HLA-B27, HLA-B60 HPO
RGD		 PMID:8733445 OMIM:106300, RGD:7364914 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 severity IAGP DNA:polymorphism:cds:HLA-DQA1*0401 RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism:cds:HLA-DQB1*0603 RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP DNA:SNP:enhancer: (rs3027898) RGD PMID:20500689 RGD:7495783 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G JAK2 Janus kinase 2 susceptibility IAGP DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) RGD PMID:20627814 RGD:6483025 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Arthritis, sacroiliac ClinVar NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
Sacroiliac joint synovitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
Scapulohumeral synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSC goosecoid homeobox IAGP HPO OMIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
Sclerotic foci within carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
Septic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 OMIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO OMIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CFI complement factor I IAGP HPO OMIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO OMIM:607676 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP HPO OMIM:617780 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO OMIM:612260 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NGF nerve growth factor IAGP HPO OMIM:608654 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
Shallow acetabular fossae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO OMIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO OMIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO OMIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:142669 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Shoulder dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO OMIM:618000 ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G ARF1 ADP ribosylation factor 1 IAGP HPO ORPHA:98892 NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP HPO ORPHA:98892 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:98892 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:98892 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP HPO ORPHA:98892 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO ORPHA:98892 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO ORPHA:98892 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
Shoulder subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Shoulder subluxation ClinVar
HPO		 OMIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Shoulder subluxation ClinVar NCBI chr 9:134,819,415...134,872,618 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Steep acetabular roof term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPJ centromere protein J IAGP HPO OMIM:613676 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:313855 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Sterile arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO OMIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
Stippled calcification in carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
Stippled calcification of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Symphalangism affecting the phalanges of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO OMIM:609432 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
Symphalangism affecting the proximal phalanx of the 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G GNG3 G protein subunit gamma 3 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,706,446...62,709,201
Ensembl chr11:62,707,676...62,709,201 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
Symphalangism of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:488232 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
Synostosis involving bones of the upper limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
Synostosis involving the 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
Synostosis of carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:157801 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2098 ORPHA:2639 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:311300 ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:2098 ORPHA:2639 ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO ORPHA:2438 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:988 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP HPO ORPHA:1275 NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:3238 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G NOG noggin IAGP HPO ORPHA:140908 ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:896 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO ORPHA:1275 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:2307 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:988 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Synostosis of carpals/tarsals term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
Synostosis of joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO ORPHA:337 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1234 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP HPO OMIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
Synovial lining hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO OMIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
Synovitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO OMIM:186580 ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Talipes valgus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:36387 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO OMIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:615879 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:36387 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:36387 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:36387 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Talipes valgus ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 More... NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:36387 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:36387 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:36387 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:36387 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G STX1B syntaxin 1B IAGP HPO ORPHA:36387 NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,638 		JBrowse link
Talocalcaneal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
Tarsal synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:609441 ORPHA:2098 ORPHA:2639 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO OMIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO OMIM:608180 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:53271 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 ORPHA:2098 ORPHA:2639 ORPHA:3250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:617898 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:2473 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:618469 ORPHA:1147 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1147 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:186500 OMIM:186570 OMIM:611377 ORPHA:1412 ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1147 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
Trident acetabulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO OMIM:617405 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
Trident pelvis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0753 KIAA0753 IAGP HPO OMIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO OMIM:614815 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
Two carpal ossification centers present at birth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
Ulnar deviation of the wrist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO OMIM:619501 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Ulnar deviation of the wrist ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:1147 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1147 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:1529 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO OMIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO OMIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Ulnar deviation of wrists ClinVar
HPO		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 OMIM:601680 ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO OMIM:618435 ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1147 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
Ulnar radial head dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOX SHOX homeobox IAGP HPO ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
Unilateral wrist flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:616531 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
Vertebral fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO OMIM:148050 ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:253290 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO OMIM:277300 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:606612 OMIM:607155 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar
HPO		 PMID:25741868 OMIM:613686 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO OMIM:277300 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NADSYN1 NAD synthetase 1 IAGP HPO OMIM:618845 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO OMIM:130720 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO OMIM:615583 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:113000 OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO OMIM:206900 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO OMIM:122600 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Vertebral fusion ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
Wind-swept deformity of the knees term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Wrist flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP HPO OMIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO OMIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO OMIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO OMIM:300055 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO OMIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO OMIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Wrist swelling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal joint morphology 1369
              Abnormal mandibular symphysis morphology 0
              Abnormal sacroiliac joint morphology + 14
              Abnormal synovial membrane morphology + 17
              Abnormality of lower limb joint + 742
              Abnormality of upper limb joint + 593
              Arthritis + 333
              Arthropathy + 47
              Chondrocalcinosis + 24
              Enlarged joints + 13
              Joint dislocation + 386
              Joint hemorrhage 17
              Joint subluxation + 31
              Joint swelling 55
              Loose body in joint 0
              Osteochondrosis + 11
              Periarticular soft-tissue mass 1
              Progressive joint destruction 1
              Pterygium + 45
              Purulent synovial fluid 0
              Synostosis of joints + 219
              Synovial fluid crystals 0
paths to the root