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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lower Extremity Deformities, Congenital
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Accession:DOID:9007794 term browser browse the term
Definition:Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms:exact_synonym: Lower Limb Deformities, Congenital
 primary_id: MESH:D038061;   RDO:0000381
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Lower Extremity Deformities, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9409668 NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Acheiropodia OMIM
ClinVar		 PMID:11090342 PMID:33863876 NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar		 PMID:25691407 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:25741868 PMID:33537682 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 PMID:25741868 More... NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTHLH parathyroid hormone like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB1 high mobility group box 1 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr11:7,195,556...7,321,071 JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:20301294 More... NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
clubfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 5:92,935,688...93,061,406
Ensembl chr 5:92,935,694...93,061,405 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO OMIM:119800 MouseDO NCBI chr 2:59,256,546...59,267,171
Ensembl chr 2:59,253,342...59,267,165 		JBrowse link
G FLNB filamin B ISO DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) RGD PMID:27395407 RGD:12791025 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO OMIM:119800 MouseDO NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:119800 MouseDO NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,040...31,020,901 		JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr15:81,900,962...81,902,327
Ensembl chr15:81,900,833...81,902,995 		JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More...
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,598...101,937,256 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,419...267,287,729 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot OMIM
ClinVar		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,200,423...137,206,979 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G RET ret proto-oncogene ISO OMIM:119800 MouseDO NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO OMIM:119800 MouseDO NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 PMID:24319099 More... NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 1:117,163,115...117,765,125
Ensembl chr 1:117,166,300...117,723,335 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775 		JBrowse link
Complex Camptosynpolydactyly 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 ISO ClinVar Annotator: match by term: Camptosynpolydactyly, complex OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:46,641,389...46,643,923
Ensembl chr12:46,642,545...46,643,219 		JBrowse link
Congenital Foot Deformities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD10 homeobox D10 ISO ClinVar Annotator: match by term: Congenital vertical talus OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:19155175 PMID:27726070 PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082 		JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,098,746...33,130,245 JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285 		JBrowse link
G BAG1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,338...33,240,724 		JBrowse link
G C10H9orf24 chromosome 10 C9orf24 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884 		JBrowse link
G C1H9orf131 chromosome 1 C9orf131 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,212,769...33,227,237
Ensembl chr10:33,211,516...33,227,302 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503 		JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,673,982...32,714,940
Ensembl chr10:32,674,045...32,714,940 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,432,529...33,445,556
Ensembl chr10:33,432,844...33,445,532 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114 		JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333 		JBrowse link
G FAM166B family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		JBrowse link
G FAM205C SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G FAM219A family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G FBXO10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,232,855...238,308,661
Ensembl chr 1:238,232,867...238,308,625 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,371,311...238,511,714
Ensembl chr 1:238,371,336...238,511,715 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,532,316...236,535,263 JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138 		JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375 		JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,126,460...33,200,819
Ensembl chr10:33,126,607...33,200,680 		JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,022,035...33,035,201
Ensembl chr10:33,022,035...33,035,200 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993 		JBrowse link
G POLR1E RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,197,659...238,219,475
Ensembl chr 1:238,197,684...238,220,524 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,111,002...237,240,311
Ensembl chr 1:237,111,012...237,235,485 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,399,383...33,426,313
Ensembl chr10:33,399,383...33,430,971 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,246,260...33,255,617
Ensembl chr10:33,246,247...33,255,688 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922 		JBrowse link
G TMEM215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,663,263...33,670,510
Ensembl chr10:33,664,793...33,670,295 		JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,328,894...238,333,066 JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,865,967...33,878,135
Ensembl chr10:33,865,959...33,879,070 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TRMT10B tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,516,042...238,536,372
Ensembl chr 1:238,516,058...238,537,149 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,755,707...32,897,260
Ensembl chr10:32,756,040...32,892,867 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,894,424...33,014,473
Ensembl chr10:32,894,432...33,014,473 		JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,153,165...238,179,344
Ensembl chr 1:238,153,168...238,177,461 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,820,675...238,068,505
Ensembl chr 1:237,820,363...238,068,305 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,609...82,696,126 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:32707087 NCBI chr 3:17,938,129...17,941,071
Ensembl chr 3:17,938,129...17,941,268 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982 		JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		JBrowse link
Flatfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Fuhrmann syndrome OMIM
ClinVar		 PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454 		JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome OMIM
ClinVar		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,376,325 		JBrowse link
G HOXA9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr18:45,404,594...45,411,512
Ensembl chr18:45,408,375...45,411,509 		JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)		 CTD
RGD		 PMID:12843316 PMID:30067223 RGD:11556209 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Holt-Oram syndrome OMIM
ClinVar		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 More... NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,774,171...37,825,401 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1641873 PMID:7581378 PMID:7655462 PMID:7719329 PMID:7719344 More... NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:109,306,489...109,421,947
Ensembl chr  X:109,306,368...109,421,785 		JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome OMIM
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM
ClinVar		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum OMIM
ClinVar		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G RNF32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr18:1,941,176...1,969,852
Ensembl chr18:1,941,182...1,969,225 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005 		JBrowse link
Preaxial Polydactyly II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18463159 PMID:20569257 RGD:12801447 RGD:12801448 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr12:2,285,679...2,311,750
Ensembl chr12:2,285,579...2,313,874 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884 		JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX3 sorting nexin 3 ISO OMIM NCBI chr 1:74,306,450...74,349,735
Ensembl chr 1:74,306,455...74,349,335 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183 		JBrowse link
Talipes Cavus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
Teebi hypertelorism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr14:49,332,937...49,463,965
Ensembl chr14:49,333,009...49,463,963 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:7,235,386...7,906,049
Ensembl chr  X:7,237,942...7,620,011 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 ClinVar
OMIM		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:30472488 PMID:31953237 More... NCBI chr14:49,332,937...49,463,965
Ensembl chr14:49,333,009...49,463,963 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:33811546 NCBI chr 6:25,782,746...25,933,753
Ensembl chr 6:25,783,597...25,933,634 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARD alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,715,688...21,720,760
Ensembl chr 4:21,715,819...21,720,764 		JBrowse link
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,701...19,514,406 		JBrowse link
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,692,990...20,143,740
Ensembl chr 4:19,692,830...19,744,135 		JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,955,026...22,053,683
Ensembl chr 4:21,954,874...22,058,699 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,319,815...19,433,492
Ensembl chr 4:19,319,810...19,433,488 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		JBrowse link
G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,593,536...19,658,695
Ensembl chr 4:19,593,536...19,617,671 		JBrowse link
G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,198,740...21,215,634
Ensembl chr 4:21,198,743...21,215,618 		JBrowse link
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,517,009...21,557,747
Ensembl chr 4:21,517,486...21,555,746 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,180,215...19,267,416
Ensembl chr 4:19,180,320...19,267,071 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:10615131 PMID:10679937 PMID:11112658 PMID:11391482 More... NCBI chr 4:22,905,627...23,162,862
Ensembl chr 4:22,905,637...23,159,546 		JBrowse link
G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 4:21,934,796...21,940,994
Ensembl chr 4:21,934,434...21,940,952 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome ClinVar PMID:24033266 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17287
    disease of anatomical entity 14854
      musculoskeletal system disease 7678
        Musculoskeletal Abnormalities 3298
          Congenital Limb Deformities 1069
            Lower Extremity Deformities, Congenital 193
              Congenital Foot Deformities + 185
              Corneodermatoosseous Syndrome 0
              Ectrodactyly Cardiopathy Dysmorphism 0
              Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
              Familial Streblodactyly 0
              Holt-Oram syndrome 3
              Keipert syndrome 1
              Merlob Grunebaum Reisner Syndrome 0
              Osteofibrous Dysplasia 1
              popliteal pterygium syndrome + 3
Path 2
Term Annotations click to browse term
  disease 17287
    Developmental Disease 17051
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16933
        Congenital Abnormalities 7221
          Musculoskeletal Abnormalities 3298
            Congenital Limb Deformities 1069
              Lower Extremity Deformities, Congenital 193
                Congenital Foot Deformities + 185
                Corneodermatoosseous Syndrome 0
                Ectrodactyly Cardiopathy Dysmorphism 0
                Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
                Familial Streblodactyly 0
                Holt-Oram syndrome 3
                Keipert syndrome 1
                Merlob Grunebaum Reisner Syndrome 0
                Osteofibrous Dysplasia 1
                popliteal pterygium syndrome + 3
paths to the root