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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 long bone morphology
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Accession:HP:0011314 term browser browse the term
Definition:An abnormality of size or shape of the long bones.
Synonyms:exact_synonym: Abnormal shape of long bone;   Abnormality of long bone morphology;   Abnormality of the tubular bones
 alt_id: HP:0100713;   HP:0100714;   HP:0100715
 xref: UMLS:C4021165


show annotations for term's descendants           Sort by:
Abnormal long bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...33,192,766 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:missense mutations:cds:p.M391R, p.Y381D RGD PMID:22387015 RGD:12801468 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		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 chr12:101,745,486...101,830,980 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:52430 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO ORPHA:52430 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		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 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 VCP valosin containing protein IAGP HPO ORPHA:52430 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,671 		JBrowse link
Abnormal diaphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2028 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		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...33,192,766 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO ORPHA:93473 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		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 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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
Abnormal distal femoral metaphysis morphology 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 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Abnormal epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO ORPHA:93283 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2639 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		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 chr17:40,287,831...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 CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:90653 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO 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 1:40,300,487...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...62,841,163 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,325...45,118,421 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO PMID:28488351 PMID:37352860 MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:969 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 GDF5 growth differentiation factor 5 IAGP HPO ORPHA:2639 ORPHA:63442 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 6:24,774,892...24,786,103 		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 HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		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 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 IDUA alpha-L-iduronidase IAGP HPO ORPHA:93473 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		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...240,824,320 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,188...180,278,984 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:931 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP HPO ORPHA:250984 NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,718 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		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 MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 ORPHA:2501 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 ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		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 ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,010...52,404,471 		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...148,021,784 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,394...46,698,394 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:772 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,640 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:772 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:772 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,349...145,918,730 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:772 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:772 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:772 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:772 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:772 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:772 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:772 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:772 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:772 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,653...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:772 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,959,717...42,979,243 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		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 PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		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 PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,574...48,520,814 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,923,089 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		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 PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:2499 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO ORPHA:2078 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		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 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 SHOX SHOX homeobox IAGP HPO 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 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 SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		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 3:133,932,699...134,052,184 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:1509 ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		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...94,596,276 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,373,933...1,543,711 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO ORPHA:2114 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO ORPHA:970 NCBI chr12:752,579...911,452
Ensembl chr12:752,536...911,452 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Abnormal epiphysis morphology of the phalanges of the hand 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 PMID:12205109 MIM:619248 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Abnormal femoral epiphysis 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 MIM:108300 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		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 HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
Abnormal femoral metaphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:668 NCBI chr22:28,687,742...28,741,834
Ensembl chr22:28,687,738...28,742,422 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,778...87,391,939 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:668 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,735...48,599,436 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:668 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Abnormal hand metaphysis morphology 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 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Abnormal humeral metaphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 humerus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:1263 ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP HPO ORPHA:1275 NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,333,609...135,400,023 		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 SHOX SHOX homeobox IAGP HPO MIM: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 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 TBX5 T-box transcription factor 5 IAGP HPO ORPHA:392 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
Abnormal lower-limb metaphysis morphology 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
Abnormal metacarpal epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal metaphyseal trabeculation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
Abnormal metaphyseal vascular invasion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Abnormal metaphysis morphology 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 ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G ADA adenosine deaminase IAGP HPO ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1522 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		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 CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:417 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:668 NCBI chr22:28,687,742...28,741,834
Ensembl chr22:28,687,738...28,742,422 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		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...33,192,766 		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...48,004,689 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:2780 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		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 DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 ORPHA:93271 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 ORPHA:474 ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO PMID:28488351 PMID:37352860 MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		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...148,884,330 		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 FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:1860 ORPHA:429 ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:2484 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1522 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		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 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,950...21,775,615 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		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 LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:931 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 ORPHA:2501 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 ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,996 		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 5:177,131,787...177,300,213 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,727...219,571,859 		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 P4HB prolyl 4-hydroxylase subunit beta IAGP HPO ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		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 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...150,158,260 		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 PSMB10 proteasome 20S subunit beta 10 IAGP HPO ORPHA:39041 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864 		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 PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 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 ORPHA:2499 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:39041 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 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:668 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,735...48,599,436 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		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: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 ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,936,995...32,001,045 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:668 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:166272 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:2635 ORPHA:93304 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:417 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		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 WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		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
Abnormal morphology of ulna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,444 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2639 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		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...140,924,976 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,292...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...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 DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,561 		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 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 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: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...10,101,937 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,318...35,467,106 		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 9:35,073,820...35,082,444 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,854...89,318,091 		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 chr14:45,135,909...45,200,890 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1263 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 ORPHA:2639 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		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 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 MACROH2A1 macroH2A.1 histone IAGP HPO ORPHA:1275 NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,333,609...135,400,023 		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 1:11,657,230...11,692,605 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...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 chr19:4,090,317...4,124,216 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 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 ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		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 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 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 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 PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,213...129,606,681 		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:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,344 		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 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,393...74,666,912 		JBrowse link
G SHOX SHOX homeobox IAGP HPO 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 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 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 chr10:110,567,680...110,606,048 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,328,714...202,341,984 		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
Abnormal proximal femoral metaphysis morphology 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 MIM:156500 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Abnormal tibial metaphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:668 NCBI chr22:28,687,742...28,741,834
Ensembl chr22:28,687,738...28,742,422 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:668 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,735...48,599,436 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:668 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Abnormal ulnar epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal ulnar metaphysis morphology 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 COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177910 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 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 ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177910 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		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 SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177910 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
Abnormal upper limb epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
Abnormal vertebral epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 IAGP HPO PMID:39414788 MIM:621099 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:90653 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Abnormality of radial epiphyses 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 1:40,300,487...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...62,841,163 		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 1:40,300,487...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...62,841,163 		JBrowse link
Abnormality of the epiphyses of the feet 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 1:40,300,487...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...62,841,163 		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...20,012,669 		JBrowse link
Abnormality of the epiphysis of the femoral head 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 ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP HPO PMID:31204009 MIM:618641 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,160...105,567,687 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO ORPHA:2114 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
Abnormality of the medullary cavity of the long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:127000 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
Absent epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Absent epiphyses ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,618...136,439,882 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
Absent epiphyses of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Absent humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
Absent primary metaphyseal spongiosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Absent styloid process of ulna 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 MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Angulated humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:22052668 MIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:28817112 MIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
Anomaly of lower limb diaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Anterior bowing of long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
Anterior tibial bowing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SATB2 SATB homeobox 2 IAGP HPO PMID:17377962 MIM:612313 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,484...199,471,266 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO PMID:12161603 MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
Aplasia of the ulna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO PMID:16380922 MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO PMID:11090342 MIM:200500 ORPHA:931 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO PMID:12116211 MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:8730285 PMID:20519243 MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:16826533 MIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Aplasia/Hypoplasia of the capital femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:215150 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
Aplasia/hypoplasia of the humerus 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:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
Aplasia/Hypoplasia of the ulna 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:1986 ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108720 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		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 WNT7A Wnt family member 7A IAGP HPO PMID:16826533 MIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Avascular necrosis of the capital femoral epiphysis 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...133,575,522 		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 COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Perthes-like femoral head changes
ClinVar Annotator: match by term: Coxa plana
ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysis 		ClinVar
HPO		 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7977371 PMID:8218237 More... MIM:150600 MIM:608805 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:132400 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		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...1,349,945 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,159...184,173,614 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		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 FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		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 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysis ClinVar PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More... NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G HP haptoglobin IAGP DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup RGD PMID:24567965 RGD:11041787 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,071 		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...20,012,669 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO PMID:26633546 MIM:614262 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO PMID:17394201 MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		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...116,874,849 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,720...139,293,557 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO PMID:20176027 MIM:222470 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO PMID:18252230 MIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 MIM:190351 ORPHA:502 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 PMID:27330106 MIM:617383 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 MIM:142669 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP HPO PMID:29429573 MIM:619377 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		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
Bent long bone 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 PMID:22387015 MIM:614592 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Bifid humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP HPO PMID:8571951 MIM:256050 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Bilateral ulnar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO PMID:15952209 MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,240 		JBrowse link
Bowdler spurs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:15782022 MIM:241500 MIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
Bowed forearm bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:19185282 MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO PMID:36097642 MIM:619598 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		JBrowse link
Bowed humerus 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 PMID:25149931 MIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO PMID:11140840 MIM:211350 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:184253 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Bowed humerus ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO PMID:29138412 MIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO PMID:33242826 MIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:30448303 MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO PMID:29769720 MIM:618022 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:26027498 MIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
Bowing of the arm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:33053334 MIM:619131 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:27380894 MIM:301014 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:21353196 MIM:613982 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:20579626 MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO PMID:29872333 MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Bowing of the legs 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 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:241500 MIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ARCN1 archain 1 IAGP HPO PMID:27476655 MIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO PMID:27374770 MIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:300009 MIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLDN16 claudin 16 IAGP HPO PMID:16501001 MIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,522...190,412,460 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:114000 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:12110406 MIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM:264700 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 MIM:600081 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP HPO PMID:29461981 MIM:619073 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,959...99,784,274 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO PMID:19110212 PMID:20223752 MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO PMID:24401050 MIM:615605 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO ORPHA:89937 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		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
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO PMID:16411219 MIM:100800 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO PMID:11941538 PMID:16927315 MIM:255800 ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:33053334 MIM:619131 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G MATN3 matrilin 3 IAGP HPO PMID:15121775 MIM:608728 ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:27380894 MIM:301014 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO PMID:19615667 MIM:250400 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 PMID:19615667 MIM:613073 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO MIM:612847 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,708 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO PMID:24387991 MIM:608940 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO PMID:29213174 MIM: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 PMID:36543534 MIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,396...118,658,038 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:21353196 MIM:613982 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:157215 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM:241530 ORPHA:157215 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:20579626 MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO PMID:29872333 MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO PMID:32755715 MIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G VDR vitamin D receptor IAGP HPO MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Bowing of the long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO MIM:166260 ORPHA:53697 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		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 B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:29931299 MIM:615349 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 MIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		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 BGN biglycan IAGP HPO PMID:7815423 MIM:121050 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2098 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO PMID:7815423 MIM:121050 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:32181939 MIM:619795 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
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...48,004,689 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:30657919 MIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		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 CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Diaphyseal bowing of long bones ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:7815423 PMID:19664000 MIM:121050 MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		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 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 FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,034...260,772 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:7815423 MIM:121050 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 PMID:7815423 MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:166250 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:p.M391R, p.Y381D RGD PMID:22387015 RGD:12801468 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 MIM:187600 ORPHA:1860 ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO ORPHA:2771 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO PMID:16835913 PMID:17264970 MIM:304120 MIM:305620 ORPHA:2484 ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:2098 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		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 HSPG2 heparan sulfate proteoglycan 2 IAGP HPO PMID:11941538 MIM:224410 MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO PMID:31914175 MIM:619751 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 PMID:7815423 MIM:121050 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:14740318 MIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:7815423 MIM:121050 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 ORPHA:2501 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 ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		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 NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:7815423 MIM:121050 ORPHA:40 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		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 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Bowing of the long bones ClinVar
HPO		 PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... ORPHA:2771 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		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 PPIB peptidylprolyl isomerase B IAGP HPO PMID:20089953 MIM:259440 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		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 PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:156400 ORPHA:33067 ORPHA:50945 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 MIM:156250 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:612940 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:21474761 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:611561 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO ORPHA:2460 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:20188343 MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO PMID:20137777 MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SHOX SHOX homeobox IAGP HPO 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 SKI SKI proto-oncogene IAGP HPO PMID:7815423 MIM:121050 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:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:7815423 MIM:121050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,995,125...171,026,775 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		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 SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO PMID:12161603 MIM:114290 ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:20579626 MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO PMID:22883145 MIM:614815 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:29358272 MIM:617952 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:7815423 MIM:121050 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 PMID:7815423 MIM:121050 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:7815423 MIM:121050 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 PMID:7815423 MIM:121050 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:7815423 MIM:121050 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,405 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:20512146 MIM:603194 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:12362049 MIM:174810 MIM:602080 ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO MIM:239000 ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:166272 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 PMID:4992387 MIM:168400 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO PMID:31411728 MIM:619879 ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,318...134,901,635 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO PMID:21473986 MIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Broad 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
Broad distal phalanges of all fingers 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 MIM: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 MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
Broad distal phalanx of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO MIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:25149931 MIM:271640 MIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BGN biglycan IAGP HPO PMID:27632686 MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G CREBBP CREB binding protein IAGP HPO PMID:22991675 MIM:180849 ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		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 EP300 E1A binding protein p300 IAGP HPO PMID:22991675 MIM:180849 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO PMID:26843489 MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO PMID:30057029 MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,507 		JBrowse link
G FLNA filamin A IAGP HPO MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		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 GATAD2B GATA zinc finger domain containing 2B IAGP HPO ORPHA:363686 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GPC4 glypican 4 IAGP HPO PMID:30982611 MIM:301026 ORPHA:2662 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,416,214 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:33159882 MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		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 SETD5 SET domain containing 5 IAGP HPO PMID:25138099 MIM:615761 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,609...9,479,240 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO PMID:22366787 MIM:601358 ORPHA:3051 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO PMID:22019273 MIM:614378 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP HPO PMID:34587386 MIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
Broad distal phalanx of the hallux 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 PMID:11343323 MIM: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 PMID:11343323 MIM:123150 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:113200 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
Broad distal phalanx of the thumb 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 MIM: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 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:113200 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
Broad distal phalanx of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:33159882 MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,277...49,840,383 		JBrowse link
Broad hallux phalanx 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 ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,251 		JBrowse link
G CREBBP CREB binding protein IAGP HPO PMID:19204439 MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,177
Ensembl chr16:67,561,831...67,639,189 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO PMID:19204439 MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:93258 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 ORPHA:1540 ORPHA:168624 ORPHA:93258 ORPHA:93259 ORPHA:93260 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,132...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,785...11,760,002 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:2662 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,416,214 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,950...21,775,615 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		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...91,950,240 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,683 		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 SATB2 SATB homeobox 2 IAGP HPO ORPHA:251019 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,484...199,471,266 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
Broad long bone diaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		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 TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO PMID:31833172 MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,476 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO PMID:22019273 MIM:614376 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
Broad long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:228520 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:166210 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:166210 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:200610 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO PMID:19110212 PMID:20223752 MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:257850 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO ORPHA:1422 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,298 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
Broad metacarpal epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP HPO MIM:112500 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Broad middle phalanx of finger 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 MIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO PMID:31250547 MIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,730,117 		JBrowse link
Broad phalanges of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF141 zinc finger protein 141 IAGP HPO PMID:23160277 MIM:615226 NCBI chr 4:337,814...384,868
Ensembl chr 4:337,800...384,868 		JBrowse link
Broad phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO MIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
Broad phalanx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO PMID:30478443 MIM:618724 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO PMID:33106379 MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		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 RAB33B RAB33B, member RAS oncogene family IAGP HPO PMID:22652534 MIM: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 ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Broad phalanx of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,763...86,932,825 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,660 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,981 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:1934 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,318 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,120 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,447...35,040,455 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,474...798,316 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO PMID:22019273 MIM:614378 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
Broad proximal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:505652 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Broad proximal phalanx of the hallux 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 PMID:11343323 MIM: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 PMID:11343323 MIM:123150 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Broad thumb 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 PMID:24581741 MIM:615777 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAN aggrecan IAGP HPO PMID:19110214 PMID:24581741 MIM:612813 MIM:615777 ORPHA:171866 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACTB actin beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Broad thumb ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,249...157,876,347 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,444 		JBrowse link
G AGPS alkylglycerone phosphate synthase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,576...177,567,024 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,458 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,872,405 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO PMID:24581741 MIM:615777 ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARCN1 archain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,352...119,420,714 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARSB arylsulfatase B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSL arylsulfatase L IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,342...123,761,755 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G BGN biglycan IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO PMID:33232675 MIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO PMID:24581741 MIM:615777 ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,251 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,763...86,932,825 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		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 PMID:24581741 MIM:615777 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,976 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,277...105,315,589 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO ORPHA:435638 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,354,048...101,557,313
Ensembl chr10:101,354,033...101,557,321 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CASR calcium sensing receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO PMID:36241386 MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCNQ cyclin Q IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,831...40,304,657 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,115,732...193,264,613 		JBrowse link
G CDH3 cadherin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPE centromere protein E IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,463 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,038...73,209,422 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:271700 MIM:615777 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,487...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,592,791...3,644,649 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,276...24,922,889 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,400 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CREBBP CREB binding protein IAGP HPO PMID:10573006 PMID:19204439 PMID:22991675 PMID:24581741 PMID:34795756 More... MIM:180849 MIM:615777 ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CTSA cathepsin A IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CTSK cathepsin K IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CUL7 cullin 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,207 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO PMID:29100085 MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,641...47,851,617 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,338...40,939,078 		JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DLX6 distal-less homeobox 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,548...34,958,964 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO PMID:26992161 MIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,588,321...101,609,662
Ensembl chr10:101,570,560...101,609,664 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,821...65,354,262 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,852...50,959,140 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,253,604...116,444,861 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO PMID:24581741 PMID:25817016 PMID:35047859 MIM:180700 MIM:615777 MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO PMID:24581741 PMID:26924530 MIM:615777 MIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,159...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,310 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G EDN1 endothelin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,287,459...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EED embryonic ectoderm development IAGP HPO MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,626 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,807,993...131,895,155 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO PMID:10573006 PMID:15706485 PMID:19204439 PMID:22991675 PMID:24581741 More... MIM:180849 MIM:613684 MIM:615777 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,131 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,051 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO PMID:26843489 MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,353...41,397,441 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO PMID:22177091 PMID:24581741 MIM:277590 MIM:615777 ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:179,017,334...179,076,567
Ensembl chr 1:179,025,804...179,076,567 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,034...260,772 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,667,462...13,732,367 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,981 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,610,666...101,695,295
Ensembl chr10:101,610,663...101,695,295 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,977 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO PMID:24581741 MIM:612961 MIM:615777 ORPHA:3237 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 PMID:15625620 PMID:24581741 MIM:101600 MIM:166250 MIM:615777 ORPHA:93258 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:SNPs, missense mutation:splice junction, CDS:multiple HPO
RGD		 PMID:9002682 PMID:24581741 PMID:7795583 MIM:101200 MIM:101600 MIM:615777 ORPHA:794 ORPHA:87 ORPHA:93258 ORPHA:93259 ORPHA:93260, RGD:155663661 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 PMID:24581741 PMID:26740388 MIM:602849 MIM:615777 ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO PMID:24581741 MIM:304120 MIM:615777 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLNB filamin B IAGP HPO PMID:24581741 MIM:615777 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FMN1 formin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:32,765,544...33,194,714
Ensembl chr15:32,765,544...33,194,714 		JBrowse link
G FN1 fibronectin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,356 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,733...88,856,970 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,128 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,785...11,760,002 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO PMID:24581741 MIM:615777 ORPHA:3237 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 PMID:24581741 MIM:615777 ORPHA:3237 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GH1 growth hormone 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GINS2 GINS complex subunit 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO PMID:18784092 MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO PMID:18784092 MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:22428873 PMID:24581741 PMID:24736735 MIM:174200 MIM:175700 MIM:615777 ORPHA:380 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,892...24,786,103 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,584...109,600,195 		JBrowse link
G GNAS GNAS complex locus IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,196...231,277,973 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,442...64,759,446 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC3 glypican 3 IAGP HPO PMID:24581741 MIM:312870 MIM:615777 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 PMID:30982611 MIM:301026 MIM:312870 ORPHA:2662 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,416,214 		JBrowse link
G GPC6 glypican 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,685 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GSC goosecoid homeobox IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G GZF1 GDNF inducible zinc finger protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,000...23,373,062 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO PMID:33268356 MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,571...226,073,206 		JBrowse link
G H3-3B H3.3 histone B IAGP HPO PMID:33268356 MIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,765,709...42,792,941 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,661 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,376...43,202,855 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO PMID:31079900 MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,358 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO PMID:24581741 MIM:615777 ORPHA:217059 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G ID4 inhibitor of DNA binding 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,366...19,842,197 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO PMID:31595528 MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,795 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:131,273,506...131,289,457
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,179...154,565,047 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO PMID:24581741 MIM:615777 ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,912...75,032,631 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO PMID:25420144 MIM:611816 ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,183 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,302...70,180,044 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO PMID:23541344 MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KL klotho IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KYNU kynureninase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,613...143,055,833 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,180...101,230,401 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,188...180,278,984 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO PMID:18178630 PMID:24581741 MIM:190605 MIM:615777 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LPIN2 lipin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,345 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,472...33,399,509 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,223...20,999,035 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO PMID:35045343 MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,656 		JBrowse link
G MANBA mannosidase beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,999 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,317...4,124,216 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,322...173,268,909 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO PMID:24581741 PMID:27426733 MIM:615777 MIM:617137 ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680 		JBrowse link
G MATN3 matrilin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,123...35,425,431 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Broad thumb ClinVar
HPO		 PMID:10405444 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 More... MIM:305450 MIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO PMID:23063620 PMID:24581741 MIM:614976 MIM:615777 ORPHA:65759 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO MIM:600987 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,307 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G MGP matrix Gla protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,887,639 		JBrowse link
G MIR140 microRNA 140 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,532...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO PMID:24581741 MIM:615777 ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,938,396...15,947,022 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,332...30,377,991 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G NADSYN1 NAD synthetase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,674...98,083,087 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIN ninein IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,504 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,668 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NOG noggin IAGP HPO PMID:24581741 MIM:184460 MIM:615777 ORPHA:3237 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPPC natriuretic peptide C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO PMID:24581741 MIM:615777 ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,870,559...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,673...125,367,729 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,237...6,633,304 		JBrowse link
G NXN nucleoredoxin IAGP HPO PMID:24581741 PMID:29276006 MIM:615777 MIM:618529 ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,727...219,571,859 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO PMID:16783569 PMID:24581741 MIM:300209 MIM:615777 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,010...52,404,471 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,784 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,394...46,698,394 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO PMID:28343629 MIM:617452 ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PAPPA2 pappalysin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601 		JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,708 		JBrowse link
G PAX3 paired box 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDHGC4 protocadherin gamma subfamily C, 4 IAGP HPO PMID:34244665 MIM:619880 NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975 		JBrowse link
G PCNT pericentrin IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,653...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,959,717...42,979,243 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,489...31,662,239 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,525 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,333 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,514...64,269,395 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,890...127,899,224 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLS3 plastin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,074,590...52,154,735 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO PMID:26739615 MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLL DNA polymerase lambda IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,578,882...101,588,270
Ensembl chr10:101,576,051...101,588,270 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,549 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,693...106,510,201 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,599,735...60,666,280 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,562...28,802,940 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKD1 protein kinase D1 IAGP HPO PMID:27479907 MIM:617364 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO PMID:24581741 PMID:34782440 MIM:615777 MIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,094...78,330,098 		JBrowse link
G PSMB1 proteasome 20S subunit beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,116...170,553,327 		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 PTDSS1 phosphatidylserine synthase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,755 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...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 1:225,919,397...225,924,340 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO PMID:24581741 MIM:615777 ORPHA:65759 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,848 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,637...82,034,204 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RALA RAS like proto-oncogene A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,445...39,708,124 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,905...64,745,456 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO PMID:24581741 MIM:274000 MIM:615777 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO PMID:27087320 MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,408 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP HPO MIM:300978 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,627 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,675...103,555,239 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO PMID:15952209 PMID:24581741 PMID:35344616 MIM:113000 MIM:268310 MIM:615777 ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,240 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,637...89,567,834 		JBrowse link
G RRAS RAS related IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,418...7,251,982 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,479 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO PMID:9425907 PMID:24581741 MIM:107480 MIM:615777 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,683 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO PMID:24581741 MIM:615777 ORPHA:251019 ORPHA:251028 ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,484...199,471,266 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,859...35,253,080 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,939 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:435638 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,609...9,479,240 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,020...2,841,291 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,917,932...111,017,307 		JBrowse link
G SHOX SHOX homeobox IAGP HPO PMID:24581741 MIM:615777 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 SIAH1 siah E3 ubiquitin protein ligase 1 IAGP HPO PMID:32430360 MIM:619314 NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,364...73,654,014 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,699...134,052,184 		JBrowse link
G SLCO5A1 solute carrier organic anion transporter family member 5A1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:69,667,046...69,834,978
Ensembl chr 8:69,667,041...69,835,064 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,824...11,079,426 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,056 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO PMID:27236920 MIM:601707 ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,511...129,213,546 		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 SMOC2 SPARC related modular calcium binding 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,440,656...168,673,445 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO PMID:22279524 MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,884 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,906 		JBrowse link
G SOST sclerostin IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,740 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SPR sepiapterin reductase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,379...72,892,158 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,139...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO PMID:22265015 PMID:24581741 MIM:136140 MIM:615777 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SULF1 sulfatase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:69,466,781...69,660,912
Ensembl chr 8:69,466,624...69,660,935 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO PMID:24581741 MIM:272200 MIM:615777 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,936,995...32,001,045 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:24581741 MIM:615777 ORPHA:392 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,933 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,099...57,299,707 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,491 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THPO thrombopoietin IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,652...55,453,397 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TP63 tumor protein p63 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,402,114 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,595...49,856,597 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO PMID:31278393 MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO PMID:10465122 PMID:24581741 MIM:180750 MIM:615777 ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO PMID:24607389 MIM:300919 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,431...41,236,579 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,173 		JBrowse link
G VDR vitamin D receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT10B Wnt family member 10B IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO PMID:24581741 MIM:180700 MIM:615777 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT6 Wnt family member 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:218,859,805...218,874,233
Ensembl chr 2:218,859,805...218,874,233 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 ORPHA:370930 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,058,335...114,256,765 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO PMID:34313816 MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,842...31,074,240 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Broad ulna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOX SHOX homeobox IAGP HPO MIM: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
Bulging epiphyses 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 MIM:300009 MIM: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 MIM:264700 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 MIM:600081 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM: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 MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Calcaneal epiphyseal stippling 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 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,884 		JBrowse link
Coarse metaphyseal trabecularization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AXIN1 axin 1 IAGP HPO PMID:37582359 MIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,730 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:2780 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,697 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,459...178,153,961 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		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 NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,086...171,411,810 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,699...14,632,728 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP HPO PMID:29122926 MIM:618961 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,514...64,269,395 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,574...48,520,814 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,060 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,085 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		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 TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,515...676,613 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		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 WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,505 		JBrowse link
Cone-shaped capital femoral epiphysis 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 MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Cone-shaped distal radial epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
Cone-shaped epiphyses fused within their metaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
Cone-shaped epiphyses of phalanges 2 to 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM: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 MIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
Cone-shaped epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS28 mitochondrial ribosomal protein S28 IAGP HPO PMID:30566640 MIM:618958 NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,401...80,030,304 		JBrowse link
Cone-shaped epiphyses of the middle phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 MIM:190351 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Cone-shaped epiphyses of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:30290151 MIM:618150 ORPHA:85172 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G DYM dymeclin IAGP HPO MIM: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 MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		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 FGFR3 fibroblast growth factor receptor 3 IAGP HPO PMID:9042914 PMID:26740388 MIM:602849 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 ORPHA:2484 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO MIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO PMID:27874174 MIM:266920 MIM:617781 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO PMID:26880018 MIM:617102 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO PMID:32101163 MIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,090...222,668,007 		JBrowse link
G MIR140 microRNA 140 IAGP HPO PMID:30804514 MIM:618618 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO PMID:22464250 MIM:101800 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...116,874,849 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:11940090 MIM:250460 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:136140 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		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 PMID:19232556 MIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Cone-shaped epiphyses of the proximal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Cone-shaped epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP HPO PMID:21415077 MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO ORPHA:808 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G ATRIP ATR interacting protein IAGP HPO ORPHA:808 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93384 ORPHA:93388 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO PMID:32031333 MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CENPE centromere protein E IAGP HPO ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,463 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO ORPHA:808 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP164 centrosomal protein 164 IAGP HPO ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,605 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:3156 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		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 CPAP centrosome assembly and centriole elongation protein IAGP HPO ORPHA:808 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,276...24,922,889 		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 8:67,062,381...67,196,778 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:808 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO MIM:613091 ORPHA:474 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 ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO PMID:26130459 MIM:617088 ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:21683322 MIM:102370 MIM:614185 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO ORPHA:3237 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:53271 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3237 ORPHA:93384 ORPHA:93388 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 ORPHA:3237 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 ORPHA:63446 ORPHA:93388 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G INVS inversin IAGP HPO ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,098,699...100,306,072 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,399...121,835,093 		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 KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO MIM:613328 ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO PMID:27426734 MIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3237 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP4 nephrocystin 4 IAGP HPO ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,804...5,993,455 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,673...125,367,729 		JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:808 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		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:13,734,675...13,777,955 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP HPO PMID:25961942 MIM:112410 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO PMID:22464250 MIM:614613 ORPHA:439822 ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:613328 ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,730,117 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,890...127,899,224 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,074,590...52,154,735 		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 RBBP8 RB binding protein 8, endonuclease IAGP HPO ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		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...57,240,479 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,255,349...243,500,095 		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 SMAD4 SMAD family member 4 IAGP HPO PMID:22158539 MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,402,114 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,595...49,856,597 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:166272 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		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 PMID:19232556 MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:3156 ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO PMID:30639322 MIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,929...79,316,550 		JBrowse link
Cone-shaped epiphysis of the 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Cone-shaped metacarpal epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO MIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 ORPHA:63446 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		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 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
Congenital pseudoarthrosis of the clavicle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO ORPHA:435638 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO PMID:36241386 MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:435638 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,609...9,479,240 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Corner fracture of metaphysis 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 PMID:29100092 MIM:184255 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G FN1 fibronectin 1 IAGP HPO PMID:29100092 MIM:184255 ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		JBrowse link
Cortical diaphyseal thickening of the upper limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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
Cortical subperiosteal resorption of humeral metaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP HPO ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,261...58,679,526 		JBrowse link
Cortical thickening of long bone diaphyses 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 ORPHA:1310 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:93324 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO PMID:15894597 MIM:131300 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
Cortically dense long tubular bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOST sclerostin IAGP HPO MIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
Crumpled long bones 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 ClinVar Annotator: match by term: Crumpled long bones ClinVar
HPO		 PMID:8364588 PMID:25741868 PMID:27081514 MIM:166210 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:27081514 MIM:166210 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO MIM:610682 ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2788 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
Cuboidal metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:201250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Cupped metaphyses of hand bones 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 PMID:29213174 MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
Delayed distal femoral epiphyseal 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 PMID:24144387 MIM:200610 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Delayed epiphyseal ossification 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 MIM:300009 MIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:156550 ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO MIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:7670472 PMID:20301660 MIM:132400 MIM:177170 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		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 CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM: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 MIM:600081 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO PMID:28263186 MIM:602557 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,651,284...152,129,619 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO PMID:9002682 MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO MIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:28328135 MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO PMID:23273567 MIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO PMID:25808063 MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MATN3 matrilin 3 IAGP DNA:missense mutation:cds:p.V194D (human) RGD PMID:11479597 RGD:1599920 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MIR140 microRNA 140 IAGP HPO PMID:30804514 MIM:618618 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO PMID:24786642 MIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO PMID:31263216 MIM:618889 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,489...31,662,239 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 ORPHA:79106 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 PMID:21474761 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO PMID:12161603 MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		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 VDR vitamin D receptor IAGP HPO MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Delayed phalangeal epiphyseal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,183 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
Delayed proximal femoral epiphyseal ossification 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 MIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93296 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,325...45,118,421 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,188...180,278,984 		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...20,012,669 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,373,933...1,543,711 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Delayed tibial epiphyseal 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 PMID:24144387 MIM:200610 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Dense metaphyseal bands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRK1 leucine rich repeat kinase 1 IAGP HPO PMID:27055475 MIM:615198 NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO PMID:17404618 MIM:611497 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
Diaphyseal cortical sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO MIM:166260 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
Diaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,139...38,357,249 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO MIM:231095 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More... NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO PMID:22683087 MIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,652...55,453,397 		JBrowse link
G TMEM53 transmembrane protein 53 IAGP HPO PMID:33824347 MIM:619727 NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481 		JBrowse link
Diaphyseal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 IAGP HPO MIM:259730 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:30982609 MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G SOST sclerostin IAGP HPO MIM:122860 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,261...58,679,526 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
Diaphyseal undertubulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERI1 exoribonuclease 1 IAGP HPO PMID:37352860 MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:8213919 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:14740318 PMID:24988918 MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3152 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2790 ORPHA:3416 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:20089953 MIM:259440 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO PMID:24241535 MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		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 SLC35D1 solute carrier family 35 member D1 IAGP HPO ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SOST sclerostin IAGP HPO ORPHA:1513 ORPHA:3152 ORPHA:3416 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO ORPHA:1513 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
Disproportionate shortening of the tibia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK1 NIMA related kinase 1 IAGP HPO MIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
Distal femoral bowing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 6:131,807,993...131,895,155 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:201250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		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...57,240,479 		JBrowse link
Distal femoral metaphyseal irregularity 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 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Distal humeral metaphyseal irregularity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO PMID:35427807 MIM:619598 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		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 MIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Distal ulnar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Distal ulnar hypoplasia ClinVar PMID:25741868 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO PMID:29378527 MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
Dorsal subluxation of ulna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOX SHOX homeobox IAGP HPO MIM: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
Dumbbell-shaped femur term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...33,192,766 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:7874117 MIM:156550 ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:256050 ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO PMID:19232556 PMID:20577006 MIM:156530 MIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Dumbbell-shaped humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 IAGP HPO MIM:211350 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
Dumbbell-shaped long bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:228520 ORPHA:440354 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 PMID:14729840 MIM:151210 MIM:156550 ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO MIM:269250 ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
Dumbbell-shaped metaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO PMID:19232556 MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Early ossification of capital femoral epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		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
Enlarged epiphyses 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 MIM:208230 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:30290151 MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:184840 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		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...48,004,689 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
Enlarged epiphyses of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
Enlarged epiphysis of the middle phalanx of the 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Enlarged epiphysis of the middle phalanx of the 3rd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Enlarged epiphysis of the proximal phalanx of the 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Enlarged epiphysis of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Enlarged humeral head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Enlarged metaphyses 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 MIM: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 MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		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...48,004,689 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO PMID:31630789 MIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,637...89,567,834 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO ORPHA:3005 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		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
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
Enlargement of the distal femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Enlargement of the proximal femoral epiphysis 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 MIM:208230 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 PMID:16088909 MIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Epiphyseal deformities of tubular bones 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 MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,733...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
Epiphyseal dysplasia 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 PMID:24581741 MIM:615777 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAN aggrecan IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACTB actin beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,249...157,876,347 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,444 		JBrowse link
G AGPS alkylglycerone phosphate synthase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,576...177,567,024 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,458 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,872,405 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARCN1 archain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,352...119,420,714 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARSB arylsulfatase B IAGP HPO PMID:24581741 MIM:253200 MIM:615777 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSL arylsulfatase L IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,342...123,761,755 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:24581741 MIM:271640 MIM:615349 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G BGN biglycan IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,251 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,976 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,277...105,315,589 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,354,048...101,557,313
Ensembl chr10:101,354,033...101,557,321 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO PMID:24581741 PMID:28742282 MIM:615777 MIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CASR calcium sensing receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCNQ cyclin Q IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,831...40,304,657 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,115,732...193,264,613 		JBrowse link
G CDH3 cadherin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO PMID:24581741 MIM:614732 MIM:615777 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPE centromere protein E IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,463 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,038...73,209,422 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:184840 MIM:215150 MIM:615777 ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:132450 MIM:615777 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO PMID:16909383 PMID:21421862 PMID:24581741 MIM:614134 MIM:615777 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 ClinVar Annotator: match by term: Epiphyseal dysplasia ClinVar
HPO		 PMID:20358595 PMID:24581741 PMID:25741868 MIM:600204 MIM:615777 ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,487...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO PMID:24581741 MIM:600969 MIM:615777 ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,592,791...3,644,649 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:7670472 PMID:24581741 MIM:132400 MIM:615777 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,276...24,922,889 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,400 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CREBBP CREB binding protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CTSA cathepsin A IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CTSK cathepsin K IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CUL7 cullin 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,207 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,338...40,939,078 		JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DLX6 distal-less homeobox 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,548...34,958,964 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,588,321...101,609,662
Ensembl chr10:101,570,560...101,609,664 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,821...65,354,262 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,852...50,959,140 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,253,604...116,444,861 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,159...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO PMID:24581741 MIM:615777 ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,310 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G EDN1 endothelin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,287,459...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,626 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO PMID:10932183 PMID:24581741 MIM:226980 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,807,993...131,895,155 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,131 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,051 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,353...41,397,441 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO PMID:24581741 PMID:28132690 MIM:615777 MIM:617425 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:179,017,334...179,076,567
Ensembl chr 1:179,025,804...179,076,567 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,034...260,772 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,667,462...13,732,367 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,981 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,610,666...101,695,295
Ensembl chr10:101,610,663...101,695,295 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,977 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLNB filamin B IAGP HPO PMID:24581741 MIM:272460 MIM:615777 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FMN1 formin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:32,765,544...33,194,714
Ensembl chr15:32,765,544...33,194,714 		JBrowse link
G FN1 fibronectin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Epiphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,363...41,602,384 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,356 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,733...88,856,970 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,128 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO PMID:25558065 MIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GH1 growth hormone 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GINS2 GINS complex subunit 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,892...24,786,103 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,584...109,600,195 		JBrowse link
G GNAS GNAS complex locus IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,196...231,277,973 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:17998446 PMID:24581741 MIM:252940 MIM:615777 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,442...64,759,446 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC3 glypican 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC6 glypican 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,685 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GSC goosecoid homeobox IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G GZF1 GDNF inducible zinc finger protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,000...23,373,062 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,765,709...42,792,941 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,661 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,376...43,202,855 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO PMID:24581741 PMID:26598328 MIM:615777 MIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G ID4 inhibitor of DNA binding 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,366...19,842,197 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,795 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:131,273,506...131,289,457
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,179...154,565,047 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,912...75,032,631 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,302...70,180,044 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO PMID:24581741 MIM:615777 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO PMID:22587682 PMID:24581741 MIM:607131 MIM:615777 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KL klotho IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KYNU kynureninase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,613...143,055,833 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,180...101,230,401 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,188...180,278,984 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP HPO ORPHA:250984 NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,718 		JBrowse link
G LPIN2 lipin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,345 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,472...33,399,509 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:24581741 MIM:615777 MIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,223...20,999,035 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MANBA mannosidase beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,999 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,317...4,124,216 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,322...173,268,909 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680 		JBrowse link
G MATN3 matrilin 3 IAGP HPO PMID:24581741 MIM:607078 MIM:615777 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,123...35,425,431 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G MGP matrix Gla protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,887,639 		JBrowse link
G MIR140 microRNA 140 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,532...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,938,396...15,947,022 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,332...30,377,991 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G NADSYN1 NAD synthetase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,674...98,083,087 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIN ninein IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,504 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,668 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NOG noggin IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPPC natriuretic peptide C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:24581741 MIM:615777 MIM:615923 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,870,559...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,673...125,367,729 		JBrowse link
G NXN nucleoredoxin IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,727...219,571,859 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,010...52,404,471 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,784 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,394...46,698,394 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PAPPA2 pappalysin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601 		JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,708 		JBrowse link
G PAX3 paired box 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCNT pericentrin IAGP HPO PMID:24581741 MIM:615777 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,653...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,959,717...42,979,243 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,489...31,662,239 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,525 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,333 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,514...64,269,395 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,890...127,899,224 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLS3 plastin 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,074,590...52,154,735 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLL DNA polymerase lambda IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:101,578,882...101,588,270
Ensembl chr10:101,576,051...101,588,270 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,549 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,693...106,510,201 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,599,735...60,666,280 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,562...28,802,940 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,094...78,330,098 		JBrowse link
G PSMB1 proteasome 20S subunit beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,116...170,553,327 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,755 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,848 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,637...82,034,204 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RALA RAS like proto-oncogene A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,445...39,708,124 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,905...64,745,456 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,408 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,675...103,555,239 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:24581741 MIM:615777 ORPHA:1824 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,240 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,637...89,567,834 		JBrowse link
G RRAS RAS related IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,418...7,251,982 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,479 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,683 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,484...199,471,266 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,859...35,253,080 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,939 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,020...2,841,291 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,917,932...111,017,307 		JBrowse link
G SHOX SHOX homeobox IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,364...73,654,014 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO PMID:24581741 MIM:226900 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,699...134,052,184 		JBrowse link
G SLCO5A1 solute carrier organic anion transporter family member 5A1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:69,667,046...69,834,978
Ensembl chr 8:69,667,041...69,835,064 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,824...11,079,426 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,056 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,440,656...168,673,445 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,884 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,906 		JBrowse link
G SOST sclerostin IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO PMID:24581741 MIM:615777 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,740 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SPR sepiapterin reductase IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,379...72,892,158 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,139...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SULF1 sulfatase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:69,466,781...69,660,912
Ensembl chr 8:69,466,624...69,660,935 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,933 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO PMID:24581741 MIM:615777 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,099...57,299,707 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,491 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO PMID:24581741 MIM:615777 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THPO thrombopoietin IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO PMID:24581741 MIM:614727 MIM:615777 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,652...55,453,397 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:24581741 MIM:615777 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO PMID:24581741 MIM:615777 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 PMID:24581741 MIM:615777 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TP63 tumor protein p63 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,402,114 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,595...49,856,597 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO PMID:24581741 MIM:615777 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO PMID:24581741 MIM:615777 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 PMID:20577006 PMID:24581741 MIM:156530 MIM:615777 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO PMID:24581741 MIM:615777 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,173 		JBrowse link
G VDR vitamin D receptor IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT10B Wnt family member 10B IAGP HPO PMID:24581741 MIM:615777 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT6 Wnt family member 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 2:218,859,805...218,874,233
Ensembl chr 2:218,859,805...218,874,233 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:24581741 MIM:615777 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:24581741 MIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:24581741 MIM:615777 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO PMID:24581741 MIM:615777 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,058,335...114,256,765 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO PMID:24581741 MIM:615777 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:24581741 MIM:615777 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP HPO MIM:600121 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,576...177,567,024 		JBrowse link
G ARSL arylsulfatase L IAGP HPO MIM:302950 ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		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 EBP EBP cholestenol delta-isomerase IAGP HPO PMID:10391218 MIM:302960 ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,819 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO PMID:9843043 PMID:20583171 MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,196...231,277,973 		JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:14684697 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,887,639 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO PMID:12668600 MIM:308050 ORPHA:139 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		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 PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 MIM:601539 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,640 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614870 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,349...145,918,730 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO MIM:614859 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614876 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO MIM:614872 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO MIM:614882 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,653...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO PMID:8940266 MIM:614862 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,959,717...42,979,243 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO PMID:21651393 MIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		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 THRB thyroid hormone receptor beta IAGP HPO MIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO PMID:31712251 MIM:619135 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
Epiphyseal stippling of the humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Epiphyseal stippling of toe phalanges 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
Expanded phalanges with widened medullary cavities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
Femoral bowing 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 BMP1 bone morphogenetic protein 1 IAGP HPO PMID:22052668 MIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO MIM:211350 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:300009 MIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO PMID:12554676 MIM:156500 ORPHA:174 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:440354 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:166200 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM: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 MIM:600081 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G DYM dymeclin IAGP HPO PMID:19816730 MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO MIM: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 MIM:615503 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:207410 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 ClinVar Annotator: match by term: Femoral bowing ClinVar
HPO		 PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... MIM:100800 MIM:187600 MIM:616482 ORPHA:1860 ORPHA:85165 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FLNA filamin A IAGP HPO PMID:12612583 PMID:17264970 MIM:304120 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:18348262 MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO PMID:33242826 MIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Bowed thighbone ClinVar
HPO		 PMID:25741868 PMID:26938784 PMID:30448303 MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:24988918 MIM: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 MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MATN3 matrilin 3 IAGP HPO PMID:15121775 MIM:608728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO PMID:23418306 PMID:26862157 MIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO PMID:26908619 MIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO PMID:31250547 MIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:17277775 MIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:608940 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO PMID:9768646 MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Femoral bowing ClinVar
HPO		 PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... MIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:25913037 MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 MIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO PMID:34782440 MIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO PMID:32227665 MIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:250250 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO MIM:616723 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,479 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO MIM:126550 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:29358272 MIM:617952 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:26911354 MIM:615066 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:25063546 MIM:602080 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:29861107 MIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G VDR vitamin D receptor IAGP HPO MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:16826533 MIM:228930 MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Femoral bowing present at birth, straightening with time 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 MIM:166220 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:166220 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
Femur fracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 IAGP HPO PMID:27751653 MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP HPO PMID:30905398 MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,148 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO PMID:34210262 MIM:259700 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:18606301 MIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:26027496 MIM:605822 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
Fibular bowing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC47 coiled-coil domain containing 47 IAGP HPO PMID:30401460 MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:19185282 MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:300009 MIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		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...33,192,766 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM:264700 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 MIM:600081 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:85165 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO PMID:21378989 MIM:102500 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:20188343 MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM: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 MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Fibular hypoplasia 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 PMID:33961779 MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
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 AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		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 BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2098 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO PMID:25361962 MIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:228520 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO MIM:613091 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO PMID:21271648 MIM:268305 ORPHA:3102 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO PMID:25759469 MIM:164745 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 PMID:20683927 MIM:200700 MIM:201250 MIM:228900 MIM:615072 ORPHA:2098 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO PMID:27158779 MIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:607278 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SHOX SHOX homeobox IAGP HPO PMID:17394206 MIM:127300 MIM: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
G SLC35D1 solute carrier family 35 member D1 IAGP HPO ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO PMID:21194678 MIM: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 PMID:12161603 MIM:114290 ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
Fibular metaphyseal irregularity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...57,240,479 		JBrowse link
Flared femoral metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...33,192,766 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:23653587 MIM:184253 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:21599986 MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Flared humeral metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Flared lower limb metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:25913037 MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
Flared metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,872,405 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO PMID:20358596 PMID:22150416 MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G AXIN1 axin 1 IAGP HPO PMID:37582359 MIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,730 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:23664117 MIM:271640 MIM: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 PMID:31438591 MIM: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 PMID:31438591 MIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO MIM:211350 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO PMID:31438591 MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:30290151 MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:215150 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:156550 ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		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 CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP HPO PMID:29461981 MIM:619073 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,959...99,784,274 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO MIM:602557 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO PMID:37055165 MIM:620819 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G EED embryonic ectoderm development IAGP HPO PMID:25787343 MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO PMID:23623389 MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,333...45,478,867 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO PMID:16411219 MIM:100800 MIM:146000 MIM:187600 MIM:187601 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 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 MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G GSC goosecoid homeobox IAGP HPO PMID:24290375 MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:28328135 MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:3377005 PMID:25348816 PMID:30448303 MIM:215140 MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO PMID:27426733 MIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,674...98,083,087 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO PMID:24387991 MIM:608940 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO PMID:33106379 MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM: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 MIM:215045 ORPHA:50945 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 PMID:11370632 MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:156510 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO PMID:31438591 MIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:26365339 MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO PMID:20577006 MIM:156530 MIM:184252 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		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...70,801,173 		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
Flat capital femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO MIM:608361 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		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 PMID:8723097 MIM:271700 MIM:609162 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO PMID:11565064 PMID:16909383 MIM:614134 MIM:614135 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO PMID:20034096 MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:226900 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO MIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM: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 MIM:142669 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
Flat distal femoral epiphysis 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 PMID:11565064 MIM:614135 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
Flattened epiphysis 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 MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO MIM: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 MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 ORPHA:1856 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO PMID:20358595 MIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,487...40,317,813 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Flattened epiphysis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,363...41,602,384 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO PMID:22587682 MIM:607131 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO PMID:29987841 MIM: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 PMID:22652534 MIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM: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 MIM:222600 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
Flattened femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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
Flattened humeral epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		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 PMID:8528240 MIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,487...40,317,813 		JBrowse link
Flattened radial epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Flattened, squared-off epiphyses of tubular bones 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 MIM:156550 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
Forearm undergrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO PMID:28191891 MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		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 RECQL4 RecQ like helicase 4 IAGP HPO PMID:15964893 MIM:218600 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 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
Fractured radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:26365339 MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
Fractured rib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO PMID:18382993 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:29861107 MIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Fragmentation of the metacarpal epiphyses 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 1:40,300,487...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...62,841,163 		JBrowse link
Fragmented epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 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 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
Fragmented, irregular epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
Genu valgum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACAN aggrecan IAGP HPO MIM: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...229,434,789 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO PMID:24531329 MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G ARSB arylsulfatase B IAGP HPO PMID:15324318 MIM: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 PMID:34916232 MIM:619698 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO PMID:7842019 MIM: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 MIM: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 MIM: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 MIM: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 BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,277
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BGN biglycan IAGP HPO PMID:15884042 MIM:182212 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO PMID:21549340 MIM: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...140,924,976 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO PMID:25561519 MIM:616202 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,277...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 7:73,683,568...73,698,228 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO PMID:29100089 MIM: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 PMID:36241386 MIM: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 PMID:15884042 MIM:182212 ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO PMID:39414788 MIM:621099 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		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 PMID:29228025 MIM: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 MIM:143095 MIM: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...1,475,104 		JBrowse link
G CLDN16 claudin 16 IAGP HPO PMID:27067446 MIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,522...190,412,460 		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...74,405,943 		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 PMID:16088909 MIM: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 7:94,394,820...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:132450 MIM:184250 MIM:184253 ORPHA:85198 ORPHA:93315 ORPHA:93316 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO PMID:16909383 MIM:614134 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 1:40,300,487...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...62,841,163 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:132400 MIM: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 PMID:31325655 MIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO PMID:31239556 MIM:615502 NCBI chr16:67,562,526...67,639,177
Ensembl chr16:67,561,831...67,639,189 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM: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 PMID:19816730 PMID:24300288 MIM:223800 MIM: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...43,810,012 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM: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...74,069,909 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:613312 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,807,993...131,895,155 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 PMID:15884042 MIM:182212 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 PMID:15884042 MIM:182212 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		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 MIM:305620 MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		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...215,436,120 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:35477222 MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,733...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...81,390,884 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM: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 PMID:28973407 MIM: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 PMID:20034096 MIM: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...74,760,706 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,452,463...74,602,619 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,144...74,851,611 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:26908836 MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G H3-3B H3.3 histone B IAGP HPO PMID:33268356 MIM: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 PMID:35213692 MIM:620072 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,964...50,107,272 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO PMID:22043168 MIM: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 PMID:33159882 MIM: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 PMID:21700882 MIM: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 PMID:25130867 PMID:28328135 MIM:616007 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607016 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM: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 MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO MIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,553 		JBrowse link
G IPO8 importin 8 IAGP HPO PMID:15884042 PMID:33875846 MIM:182212 MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO PMID:22043168 MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO PMID:32041641 MIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,998 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO PMID:22152677 MIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO PMID:22587682 MIM:607131 ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,687...169,526,262 		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 PMID:25348816 MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...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...74,122,527 		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 PMID:25574826 PMID:25808063 MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO PMID:22043168 MIM: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 chr19:12,643,831...12,666,762 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...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 chr19:4,090,317...4,124,216 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO PMID:30612693 MIM: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 PMID:14729835 MIM:607078 ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,526...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 7:73,834,012...73,842,539 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:15884042 MIM:182212 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO PMID:22043168 MIM: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 PMID:22043168 MIM:176270
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM: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 PMID:32917887 MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO PMID:38480682 MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,954 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,773,975...74,789,376 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO PMID:27466185 MIM: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 PMID:31250547 MIM: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 MIM:162200 ORPHA:363700 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO MIM: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 MIM: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 PMID:22043168 MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM: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 MIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,010...52,404,471 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO PMID:25078763 MIM:618493 ORPHA:436141 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 PMID:9768646 MIM: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 PMID:36543534 MIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,396...118,658,038 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO PMID:37919452 MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,172...63,616,883 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		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 PMID:33058759 MIM: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 PMID:33058759 MIM: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 PMID:33106379 MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,224 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO PMID:22043168 MIM: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 PMID:22043168 MIM: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 MIM:201000 ORPHA:65759 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,848 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO PMID:22652534 MIM: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...116,874,849 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,223,231...74,254,458 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO PMID:17558409 MIM: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...57,240,479 		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 SCARF2 scavenger receptor class F member 2 IAGP HPO PMID:29378527 MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO PMID:34344887 MIM: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 PMID:27355534 MIM:265900 ORPHA:3005 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 PMID:15884042 MIM: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 PMID:29878199 MIM: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 PMID:34064542 MIM:222600 ORPHA:56304 ORPHA:628 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:15884042 MIM:182212 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO PMID:22043168 MIM: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 PMID:22043168 MIM: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...36,370,215 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO PMID:34211179 MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,288...54,671,446 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,205...73,719,691 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO PMID:24515783 MIM:248000 ORPHA:2477 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 PMID:30595499 MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,476 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO PMID:25480037 MIM:616145 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO PMID:15894597 MIM:131300 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:15884042 MIM:182212 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 PMID:15884042 MIM:182212 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:15884042 MIM:182212 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 PMID:15884042 MIM:182212 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:15884042 MIM:182212 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		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 MIM: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 PMID:30773277 MIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		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 PMID:4992387 PMID:14755468 PMID:20577006 MIM:156530 MIM:168400 MIM: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 PMID:31820119 MIM:618744 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,950...63,891,590 		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 MIM: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 WNT7A Wnt family member 7A IAGP HPO MIM:613005 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,356 		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 PMID:33875846 MIM: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 PMID:29851065 MIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,046 		JBrowse link
Genu varum 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 MIM:615777 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAN aggrecan IAGP HPO MIM:608361 MIM:615777 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:615777 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		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...229,434,789 		JBrowse link
G ACTB actin beta IAGP HPO MIM:615777 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO MIM:615777 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,249...157,876,347 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO MIM:615777 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO MIM:615777 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:615777 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO MIM:615777 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO MIM:615777 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,444 		JBrowse link
G AGPS alkylglycerone phosphate synthase IAGP HPO MIM:615777 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,576...177,567,024 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:615777 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO MIM:615777 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,458 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:615777 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:615777 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,872,405 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:615777 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:615777 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO MIM:615777 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:615777 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO MIM:615777 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		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 ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:615777 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO MIM:615777 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO MIM:615777 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO MIM:615777 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO MIM:615777 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARCN1 archain 1 IAGP HPO MIM:615777 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:615777 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,352...119,420,714 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:615777 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:615777 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSL arylsulfatase L IAGP HPO MIM:615777 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:615777 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,342...123,761,755 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:615777 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:615777 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 MIM:615777 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 MIM:615777 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G BGN biglycan IAGP HPO PMID:27236923 MIM:300106 MIM:615777 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO MIM:615777 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO MIM:615777 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:615777 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,251 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO MIM:615777 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:615777 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,976 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO MIM:615777 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,277...105,315,589 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:615777 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP HPO MIM:615777 NCBI chr10:101,354,048...101,557,313
Ensembl chr10:101,354,033...101,557,321 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO MIM:615777 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO PMID:28742282 MIM:251450 MIM:615777 MIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CASR calcium sensing receptor IAGP HPO MIM:615777 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO MIM:615777 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:615777 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO MIM:615777 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO MIM:615777 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO PMID:39414788 MIM:621099 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO MIM:208230 MIM:615777 ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCNQ cyclin Q IAGP HPO MIM:615777 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:615777 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,831...40,304,657 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO MIM:615777 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,115,732...193,264,613 		JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:615777 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:615777 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO MIM:615777 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPE centromere protein E IAGP HPO MIM:615777 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,463 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO MIM:615777 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:615777 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:615777 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO MIM:615777 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO MIM:615777 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		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 CHST11 carbohydrate sulfotransferase 11 IAGP HPO MIM:615777 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:615777 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 MIM:615777 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 MIM:615777 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:615777 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO MIM:615777 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:615777 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:615777 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:615777 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,038...73,209,422 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:615777 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO PMID:12554676 PMID:16088909 MIM:156500 MIM:615777 ORPHA:174 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 MIM:615777 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 MIM:615777 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:615777 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:615777 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO MIM:615777 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 PMID:7874117 PMID:29100092 MIM:156550 MIM:184255 MIM:615777 ORPHA:85166 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO MIM:615777 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 PMID:20358595 MIM:600204 MIM:615777 ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,487...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO MIM:615777 ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO MIM:615777 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,592,791...3,644,649 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:27432013 MIM:177170 MIM:615777 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO MIM:615777 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,276...24,922,889 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:615777 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,400 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO MIM:615777 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:615777 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO MIM:615777 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO MIM:615777 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:615777 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO MIM:615777 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CTSA cathepsin A IAGP HPO MIM:615777 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CTSK cathepsin K IAGP HPO MIM:615777 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CUL7 cullin 7 IAGP HPO MIM:615777 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO MIM:615777 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM:615777 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 MIM:615777 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,247 		JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP HPO PMID:29461981 MIM:619073 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,959...99,784,274 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:615777 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO PMID:28263186 MIM:602557 MIM:615777 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,188,734...3,204,700 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:615777 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,207 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO MIM:615777 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 MIM:615777 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO MIM:615777 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,338...40,939,078 		JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO MIM:615777 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO MIM:615777 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DLX6 distal-less homeobox 6 IAGP HPO MIM:615777 NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO MIM:615777 ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:615777 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:615777 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,548...34,958,964 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO MIM:615777 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO MIM:615777 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO MIM:615777 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) IAGP HPO MIM:615777 NCBI chr10:101,588,321...101,609,662
Ensembl chr10:101,570,560...101,609,664 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO MIM:615777 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,821...65,354,262 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:615777 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,852...50,959,140 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO MIM:615777 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,253,604...116,444,861 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:615777 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO MIM:615777 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,159...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO PMID:19005420 PMID:19816730 MIM:223800 MIM:607326 MIM:615777 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO MIM:615777 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:615777 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO MIM:615777 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,310 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:615777 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO MIM:615777 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G EDN1 endothelin 1 IAGP HPO MIM:615777 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,287,459...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO MIM:615777 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO PMID:28331068 MIM:615777 MIM:617941 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:615777 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO MIM:615777 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,626 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO PMID:20137773 MIM:613312 MIM:615777 ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,807,993...131,895,155 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO MIM:615777 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:615777 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO MIM:615777 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,131 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:615777 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 MIM:615777 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 MIM:615777 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO MIM:615777 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,051 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:615777 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,353...41,397,441 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:615777 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:615777 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:615777 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase IAGP HPO MIM:615777 NCBI chr 1:179,017,334...179,076,567
Ensembl chr 1:179,025,804...179,076,567 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:615777 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,034...260,772 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO MIM:615777 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,667,462...13,732,367 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO MIM:615777 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,981 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:615777 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:615777 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 IAGP HPO MIM:615777 NCBI chr10:101,610,666...101,695,295
Ensembl chr10:101,610,663...101,695,295 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO MIM:615777 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:615777 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO MIM:615777 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,977 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO MIM:615777 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO MIM:615777 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO MIM:615777 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 MIM:615777 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 MIM:615777 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 ClinVar Annotator: match by term: Genu varum ClinVar
HPO		 PMID:16912704 PMID:19215249 PMID:25741868 PMID:28492532 PMID:32981126 MIM:100800 MIM:146000 MIM:615777 ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:615777 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 MIM:615777 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO MIM:615777 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO MIM:615777 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLNB filamin B IAGP HPO MIM:615777 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FMN1 formin 1 IAGP HPO MIM:615777 NCBI chr15:32,765,544...33,194,714
Ensembl chr15:32,765,544...33,194,714 		JBrowse link
G FN1 fibronectin 1 IAGP HPO PMID:29100092 MIM:184255 MIM:615777 ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:615777 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,356 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO MIM:615777 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO MIM:615777 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:615777 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,733...88,856,970 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO MIM:615777 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,128 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO MIM:615777 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO MIM:615777 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO MIM:615777 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GH1 growth hormone 1 IAGP HPO MIM:615777 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Genu varum ClinVar
HPO		 PMID:10984309 PMID:25741868 PMID:28492532 MIM:615777 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO MIM:615777 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP HPO MIM:615777 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GINS2 GINS complex subunit 2 IAGP HPO MIM:615777 NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:615777 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,577...121,449,727 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:615777 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO MIM:615777 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,892...24,786,103 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:615777 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,584...109,600,195 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:615777 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:615777 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,196...231,277,973 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO MIM:615777 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:615777 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO MIM:615777 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:615777 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,442...64,759,446 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:615777 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:615777 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:615777 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP HPO MIM:615777 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,685 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO MIM:615777 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:615777 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:615777 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G GZF1 GDNF inducible zinc finger protein 1 IAGP HPO MIM:615777 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,000...23,373,062 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO MIM:615777 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO MIM:615777 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,765,709...42,792,941 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:615777 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,661 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO MIM:615777 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO MIM:615777 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO MIM:615777 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:615777 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,376...43,202,855 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO MIM:615777 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO MIM:615777 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO MIM:615777 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:615777 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO MIM:615777 ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:615777 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:615777 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:615777 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:615777 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:615777 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615777 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G ID4 inhibitor of DNA binding 4 IAGP HPO MIM:615777 NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,366...19,842,197 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO MIM:615777 ORPHA:296 ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO MIM:615777 ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615777 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO MIM:615777 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:615777 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:615777 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615777 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO MIM:615777 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO MIM:615777 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,925...43,647,299 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO MIM:615777 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP HPO MIM:615777 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,795 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO MIM:615777 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:615777 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:615777 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP HPO MIM:615777 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP HPO MIM:615777 NCBI chr  X:131,273,506...131,289,457
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 MIM:615777 ORPHA:63446 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO MIM:615777 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:615777 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,179...154,565,047 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO MIM:615777 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:615777 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:615777 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO MIM:615777 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:615777 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO PMID:32041641 MIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,998 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:615777 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,912...75,032,631 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:615777 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,302...70,180,044 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO MIM:615777 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO MIM:615777 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:615777 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO PMID:22152677 MIM:603546 MIM:615777 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:615777 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KL klotho IAGP HPO MIM:615777 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,687...169,526,262 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:615777 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:615777 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KYNU kynureninase IAGP HPO MIM:615777 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,613...143,055,833 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO MIM:615777 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:615777 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO MIM:615777 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,180...101,230,401 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:615777 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:615777 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO MIM:615777 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO MIM:615777 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,188...180,278,984 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:615777 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...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 LMX1B LIM homeobox transcription factor 1 beta IAGP HPO MIM:615777 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:615777 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LPIN2 lipin 2 IAGP HPO MIM:615777 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,345 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:615777 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:615777 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 IAGP HPO MIM:615777 NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO PMID:33991472 MIM:615777 MIM:619451 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,472...33,399,509 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO MIM:615777 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:615777 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO MIM:615777 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:615777 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,223...20,999,035 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO MIM:615777 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:615777 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MANBA mannosidase beta IAGP HPO MIM:615777 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,999 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:615777 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO MIM:615777 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,317...4,124,216 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO MIM:615777 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,322...173,268,909 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO MIM:615777 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO MIM:615777 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680 		JBrowse link
G MATN3 matrilin 3 IAGP HPO MIM:615777 ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:615777 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 IAGP HPO MIM:615777 NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,123...35,425,431 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO MIM:615777 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:615777 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO MIM:615777 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO MIM:615777 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO MIM:615777 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:615777 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:615777 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,887,639 		JBrowse link
G MIR140 microRNA 140 IAGP HPO MIM:615777 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:615777 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 MIM:615777 ORPHA:2501 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO MIM:615777 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,532...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:615777 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO PMID:19615667 MIM:613073 MIM:615777 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO MIM:615777 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO MIM:615777 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO MIM:615777 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:615777 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:615777 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,938,396...15,947,022 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,332...30,377,991 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO MIM:615777 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G NADSYN1 NAD synthetase 1 IAGP HPO MIM:615777 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:615777 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:615777 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,674...98,083,087 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO MIM:615777 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		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 NEK1 NIMA related kinase 1 IAGP HPO MIM:615777 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:615777 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:615777 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:615777 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:615777 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIN ninein IAGP HPO MIM:615777 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,504 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:615777 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 MIM:613330 MIM:615777 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO MIM:615777 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,668 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:615777 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NOG noggin IAGP HPO MIM:615777 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO MIM:615777 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:615777 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPPC natriuretic peptide C IAGP HPO MIM:615777 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:615777 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO MIM:615777 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:615777 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:615777 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:615777 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,870,559...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:615777 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:615777 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,673...125,367,729 		JBrowse link
G NXN nucleoredoxin IAGP HPO MIM:615777 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO MIM:615777 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,727...219,571,859 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:615777 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 MIM:615777 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,010...52,404,471 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO MIM:615777 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,784 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 MIM:615777 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,394...46,698,394 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:615777 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO MIM:615777 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO MIM:615777 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:615777 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO MIM:615777 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PAPPA2 pappalysin 2 IAGP HPO MIM:615777 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601 		JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO MIM:615777 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,708 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:615777 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:615777 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:615777 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP HPO MIM:615777 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:615777 ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:615777 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,653...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO MIM:615777 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,959,717...42,979,243 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:615777 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,548...136,914,598 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:615777 ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:615777 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO MIM:615777 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:615777 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO MIM:615777 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,489...31,662,239 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO MIM:615777 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:615777 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO MIM:615777 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,525 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO MIM:615777 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,333 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP HPO MIM:615777 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,514...64,269,395 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:615777 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO MIM:615777 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO MIM:615777 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,890...127,899,224 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO MIM:615777 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO MIM:615777 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLS3 plastin 3 IAGP HPO MIM:615777 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO MIM:615777 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:615777 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,074,590...52,154,735 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:615777 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLL DNA polymerase lambda IAGP HPO MIM:615777 NCBI chr10:101,578,882...101,588,270
Ensembl chr10:101,576,051...101,588,270 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:615777 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:615777 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:615777 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO PMID:21671373 MIM:264090 MIM:615777 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,549 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:615777 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,693...106,510,201 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO PMID:33602924 MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,168...633,572 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:615777 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO MIM:615777 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO MIM:615777 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,599,735...60,666,280 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO MIM:615777 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,562...28,802,940 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:615777 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:615777 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 PMID:33106379 MIM:615777 MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,086,874...81,217,970 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO MIM:615777 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO MIM:615777 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO MIM:615777 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,094...78,330,098 		JBrowse link
G PSMB1 proteasome 20S subunit beta 1 IAGP HPO MIM:615777 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,116...170,553,327 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:615777 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 MIM:615777 ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO MIM:615777 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,755 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:615777 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 MIM:615777 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,848 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO MIM:615777 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO MIM:615777 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,637...82,034,204 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO MIM:615777 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:615777 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RALA RAS like proto-oncogene A IAGP HPO MIM:615777 NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,445...39,708,124 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO MIM:615777 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,905...64,745,456 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:615777 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 MIM:615777 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,065...145,928,067 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO MIM:615777 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:615777 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO MIM:615777 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO MIM:615777 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO MIM:615777 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,408 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:11940090 MIM:250460 MIM:615777 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO MIM:615777 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,675...103,555,239 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:615777 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:615777 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,240 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:615777 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:615777 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO PMID:31630789 MIM:615777 MIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,637...89,567,834 		JBrowse link
G RRAS RAS related IAGP HPO MIM:615777 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 MIM:615777 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO MIM:615777 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,418...7,251,982 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:615777 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO MIM:615777 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,479 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:615777 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO MIM:615777 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,683 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:615777 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO MIM:615777 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,484...199,471,266 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:615777 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:615777 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO MIM:615777 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,859...35,253,080 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO MIM:615777 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO MIM:615777 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,939 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO MIM:615777 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:615777 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:615777 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO MIM:615777 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO MIM:615777 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO MIM:615777 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,020...2,841,291 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:615777 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO MIM:615777 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:615777 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,917,932...111,017,307 		JBrowse link
G SHOX SHOX homeobox IAGP HPO MIM:615777 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 MIM:615777 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 MIM:615777 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO MIM:615777 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,364...73,654,014 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:615777 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		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 SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM:615777 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO MIM:615777 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO MIM:615777 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,159 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:615777 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,587 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO MIM:615777 ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,699...134,052,184 		JBrowse link
G SLCO5A1 solute carrier organic anion transporter family member 5A1 IAGP HPO MIM:615777 NCBI chr 8:69,667,046...69,834,978
Ensembl chr 8:69,667,041...69,835,064 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:615777 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:615777 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:615777 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:615777 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,824...11,079,426 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:615777 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,056 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:615777 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:615777 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:615777 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 MIM:615777 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP HPO MIM:615777 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,440,656...168,673,445 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:615777 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,884 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO MIM:615777 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,906 		JBrowse link
G SOST sclerostin IAGP HPO MIM:615777 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO MIM:615777 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO MIM:615777 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:615777 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO MIM:615777 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO MIM:615777 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO MIM:615777 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,740 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO MIM:615777 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SPR sepiapterin reductase IAGP HPO MIM:615777 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,379...72,892,158 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO MIM:615777 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,139...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO MIM:615777 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:615777 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:615777 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:615777 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO MIM:615777 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:615777 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SULF1 sulfatase 1 IAGP HPO MIM:615777 NCBI chr 8:69,466,781...69,660,912
Ensembl chr 8:69,466,624...69,660,935 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:615777 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP HPO MIM:615777 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO MIM:615777 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:615777 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO MIM:615777 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:615777 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO MIM:615777 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,933 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO MIM:615777 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:615777 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,099...57,299,707 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:615777 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO MIM:615777 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,491 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO MIM:615777 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:615777 ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO MIM:615777 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO MIM:615777 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:615777 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:615777 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 MIM:615777 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:615777 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO MIM:615777 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,652...55,453,397 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:615777 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO MIM:615777 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO MIM:615777 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:615777 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO MIM:615777 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO MIM:615777 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:615777 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 MIM:271510 MIM:615777 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:615777 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 ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO MIM:615777 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,402,114 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO MIM:615777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,595...49,856,597 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO MIM:615777 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:615777 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:615777 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:184260 MIM:615777 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:615777 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 MIM:615777 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO MIM:615777 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO MIM:615777 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTI1 TELO2 interacting protein 1 IAGP HPO PMID:36724785 MIM:620445 NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO MIM:615777 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:615777 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:615777 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO MIM:615777 MIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,527...185,425,979 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO MIM:615777 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,173 		JBrowse link
G VDR vitamin D receptor IAGP HPO MIM:615777 ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:615777 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO MIM:615777 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:615777 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:615777 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO PMID:20729831 MIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO MIM:615777 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT10B Wnt family member 10B IAGP HPO MIM:615777 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO MIM:615777 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:615777 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT6 Wnt family member 6 IAGP HPO MIM:615777 NCBI chr 2:218,859,805...218,874,233
Ensembl chr 2:218,859,805...218,874,233 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:615777 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:615777 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:615777 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO MIM:615777 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,058,335...114,256,765 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:615777 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:615777 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:615777 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Growth arrest lines term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO MIM:102700 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
Humeral pseudarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,166...30,741,409 		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 PMID:22019272 MIM: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 MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO PMID:19589401 MIM: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 MIM: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 MIM:101200 MIM:101600 MIM: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 MIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO PMID:11545688 MIM: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 PMID:14758361 MIM:201750 MIM: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 PMID:24241535 MIM: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 PMID:19068278 MIM: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 PMID:16826533 MIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Humerus varus 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:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
Hypoplasia of proximal fibula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:30290151 MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
Hypoplasia of proximal radius 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 ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:184253 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,144,284...47,186,814 		JBrowse link
Hypoplasia of the capital femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G AMBN ameloblastin IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:18834968 MIM:612394 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 PMID:18834968 MIM:612394 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 PMID:18834968 MIM:612394 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO PMID:28742282 MIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,707...79,009,867 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:18834968 MIM:612394 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO PMID:21358632 MIM:613805 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,831...40,304,657 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO PMID:18834968 MIM:143095 MIM:612394 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO PMID:19008299 MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,038...73,209,422 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
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...48,004,689 		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 COPB2 COPI coat complex subunit beta 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,942...139,389,736 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		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 EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO PMID:28132690 MIM:617425 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO PMID:33558080 MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:33159882 MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF5B kinesin family member 5B IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,014...32,056,454 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G MATN3 matrilin 3 IAGP HPO MIM:607078 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,090...222,668,007 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:18834968 MIM:612394 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HA1 prolyl 4-hydroxylase subunit alpha 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:73,007,217...73,096,866
Ensembl chr10:73,005,811...73,096,983 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,396...118,658,038 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO PMID:18834968 MIM:612394 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 PMID:18834968 MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,219,968 		JBrowse link
G PLS3 plastin 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:177,928,788...177,984,284
Ensembl chr 1:177,923,956...177,984,303 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,056 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:18834968 MIM:612394 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:18834968 MIM:612394 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO MIM:313400 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT11 Wnt family member 11 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,761 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
Hypoplasia of the radius 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 MIM:607143 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,458 		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 5:112,707,498...112,846,239 		JBrowse link
G CCNQ cyclin Q IAGP HPO ORPHA:140952 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		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 DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO MIM:263750 ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO PMID:28191891 MIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO PMID:35137569 MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO PMID:21271648 MIM:268305 ORPHA:3102 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		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 FANCB FA complementation group B IAGP HPO ORPHA:3412 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCF FA complementation group F IAGP HPO PMID:27714961 MIM:603467 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,854...89,318,091 		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...44,389,977 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:149730 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 4:1,793,286...1,808,873 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:200700 MIM:201250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP HPO PMID:27666822 MIM:617895 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,795 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO PMID:12624140 MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO PMID:20381006 MIM:212780 ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		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 NIPBL NIPBL cohesin loading factor IAGP HPO MIM: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 MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO PMID:17200671 MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		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 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO