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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:Abnormality of the calf
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Accession:HP:0002981 term browser browse the term
Definition:An abnormality of the calf, i.e. of the posterior part of the lower leg.
Synonyms:xref: UMLS:C4021832



show annotations for term's descendants           Sort by:
 
Abnormality of fibula morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85198 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO 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 ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:1540 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLNB filamin B IAGP ORPHA:1190 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Abnormality of the tibial metaphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP ORPHA:668 HPO NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:668 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:668 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Abnormality of the tibial plateaux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP ORPHA:93284 HPO NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
Abnormality of tibia morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP ORPHA:64755 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO 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 ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO 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 ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP ORPHA:1525 HPO NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:363700 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SEMA3E semaphorin 3E IAGP ORPHA:138 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP ORPHA:1802 HPO 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 ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G WNT7A Wnt family member 7A IAGP ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Abnormality of tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:166011 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Absent tibia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP OMIM:613091 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:135750 OMIM:188740 ORPHA:2378 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G PITX1 paired like homeodomain 1 IAGP OMIM:119800 HPO NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SEMA3E semaphorin 3E IAGP OMIM:214800 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
Anterior tibial bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
Aplasia/Hypoplasia of the fibula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO 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 ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:2632 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Aplasia/Hypoplasia of the tibia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:1986 ORPHA:3329 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP ORPHA:1827 HPO NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Bowing of the legs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP ORPHA:1855 HPO 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 OMIM:241500 OMIM:241510 HPO NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G CDC45 cell division cycle 45 IAGP OMIM:617063 HPO 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 OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CRTAP cartilage associated protein IAGP OMIM:610682 HPO NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 HPO 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 OMIM:600081 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP OMIM:615605 HPO 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 ORPHA:89937 HPO 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 ORPHA:313855 HPO 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 ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP OMIM:617107 HPO 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 ORPHA:1865 HPO 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 OMIM:619131 HPO NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:608728 ORPHA:156728 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP OMIM:613073 HPO NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP OMIM:112250 HPO 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 ORPHA:97685 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP OMIM:612847 HPO NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP ORPHA:85167 HPO 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 homolog X-linked IAGP OMIM:307800
ClinVar Annotator: match by term: Bowing of the legs
HPO
ClinVar
PMID:25741868 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Bowing of the legs ClinVar PMID:25741868 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ORPHA:157215 HPO NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO 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 OMIM:277440 HPO NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Decreased fibular diameter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTX2 metaxin 2 IAGP OMIM:619127 HPO NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G PAPPA2 pappalysin 2 IAGP OMIM:619489 HPO NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601
JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP OMIM:616897 HPO NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
JBrowse link
Disproportionate shortening of the tibia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK1 NIMA related kinase 1 IAGP OMIM:263520 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
Distal femoral bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ORPHA:289176 HPO 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 ORPHA:289176 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 HPO 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 ORPHA:457395 HPO NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
Distal tibial bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
Femoral bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:3329 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO 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 OMIM:156500 HPO NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:440354 HPO 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 OMIM:166200 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO 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 OMIM:600081 ORPHA:289157 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DYM dymeclin IAGP OMIM:223800 HPO 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 OMIM:613091 HPO 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 OMIM:615503 HPO 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 OMIM:207410 HPO 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 ORPHA:1860 ORPHA:85165
ClinVar Annotator: match by term: Bowed thighbone
HPO
ClinVar
PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP OMIM:304120 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GORAB golgin, RAB6 interacting IAGP OMIM:231070 HPO NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Bowed thighbone ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO 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 OMIM:248500 HPO NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP OMIM:602111 ORPHA:93356 HPO 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 OMIM:615415 HPO NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO 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 OMIM:610915 HPO 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 OMIM:608940 HPO 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 homolog X-linked IAGP OMIM:307800 HPO 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 OMIM:609220
ClinVar Annotator: match by term: Femoral bowing
HPO
ClinVar
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G POLR1A RNA polymerase I subunit A IAGP OMIM:616462 HPO 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 OMIM:201750 OMIM:207410 ORPHA:95699 HPO 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 OMIM:619638 HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250250 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP OMIM:616723 HPO NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP OMIM:126550 HPO 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 OMIM:241530 HPO 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 OMIM:114290 ORPHA:140 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP OMIM:617952 HPO 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 OMIM:615066 HPO NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP OMIM:618188 HPO 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 OMIM:277440 HPO 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 OMIM:228930 OMIM:276820 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:166220 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:166220 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
Fibular aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP OMIM:300373 HPO NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNA filamin A IAGP ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP OMIM:108720 OMIM:112310 ORPHA:56305 HPO 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 OMIM:228900 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO 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 OMIM:228930 OMIM:276820 ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Fibular bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO 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 ORPHA:1427 HPO NCBI chr 6:33,162,694...33,193,137
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 HPO 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 OMIM:600081 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:85165 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP OMIM:307800 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO 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 OMIM:277440 HPO NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Fibular duplication term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:135750 OMIM:188740 ORPHA:2378 ORPHA:3332 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:3332 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Fibular hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF3 AF4/FMR2 family member 3 IAGP OMIM:619297 HPO NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428
JBrowse link
G AFF4 AF4/FMR2 family member 4 IAGP ORPHA:444077 HPO 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 OMIM:300373 HPO 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 ORPHA:3329 HPO 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 ORPHA:2098 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:228520 HPO 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 OMIM:613091 HPO 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 OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:200700 OMIM:201250 OMIM:228900 ORPHA:2098 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPC6 glypican 6 IAGP OMIM:258315 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 HPO 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 ORPHA:3144 HPO NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INTU inturned planar cell polarity protein IAGP OMIM:617925 HPO NCBI chr 4:127,622,953...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP OMIM:607278 HPO NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 ORPHA:79106 HPO 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 ORPHA:1788 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP ORPHA:3144 HPO NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP OMIM:206920 ORPHA:1106 HPO 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 OMIM:114290 ORPHA:140 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
Fibular overgrowth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDRGK1 DDRGK domain containing 1 IAGP OMIM:602557 HPO NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Genu valgum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:608361 HPO 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 ORPHA:171436 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ARSB arylsulfatase B IAGP OMIM:253200 HPO 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 OMIM:619698 HPO NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP OMIM:304150 ORPHA:198 HPO 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 OMIM:309580 HPO 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 OMIM:271640 HPO 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 OMIM:245600 HPO 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 ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP OMIM:614078 HPO 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 ORPHA:1340 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CBS cystathionine beta-synthase IAGP ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCN6 cellular communication network factor 6 IAGP ORPHA:1159 HPO 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 OMIM:618702 HPO NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811
JBrowse link
G CFL2 cofilin 2 IAGP ORPHA:171436 HPO NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 OMIM:245600 ORPHA:263463 HPO 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 ORPHA:53 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP ORPHA:263487 HPO 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 OMIM:156500 HPO NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:250984 ORPHA:560 HPO 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 ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:132450 OMIM:184250 ORPHA:166011 ORPHA:85198 ORPHA:93315 ORPHA:93316 ORPHA:94068 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614134 ORPHA:166002 ORPHA:250984 HPO 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 ORPHA:166002 ORPHA:250984 HPO NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 ORPHA:250984 HPO NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:132400 OMIM:177170 ORPHA:93308 HPO 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 OMIM:618870 HPO NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP OMIM:612199 HPO NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,056
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP OMIM:219800 HPO 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 ORPHA:91 HPO 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 ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G DYM dymeclin IAGP OMIM:223800 OMIM:607326 ORPHA:239 HPO 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 ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO 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 ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP OMIM:613312 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP OMIM:225500 ORPHA:289 HPO 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 OMIM:225500 ORPHA:289 HPO 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 OMIM:133700 ORPHA:321 ORPHA:502 HPO 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 OMIM:133701 ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:2462 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO 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 OMIM:305620 OMIM:309350 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FN1 fibronectin 1 IAGP ORPHA:93315 HPO NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP OMIM:253000 HPO NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GAN gigaxonin IAGP ORPHA:643 HPO NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809
JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:253010 HPO 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 OMIM:618123 ORPHA:289 HPO 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 OMIM:252605 HPO 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 ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G GUSB glucuronidase beta IAGP OMIM:253220 HPO NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:231214 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP OMIM:176270 HPO 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 OMIM:619194 HPO 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 OMIM:614880 HPO 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 ORPHA:800 HPO 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 OMIM:616007 ORPHA:436174 HPO NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
JBrowse link
G IDUA alpha-L-iduronidase IAGP OMIM:607016 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP OMIM:182250 HPO 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 OMIM:615630 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP OMIM:176270 HPO NCBI chr15:25,116,545...25,122,476 JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 ORPHA:93360 HPO NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:607131 ORPHA:166024 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G KLHL41 kelch like family member 41 IAGP ORPHA:171436 HPO NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1340 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LIFR LIF receptor subunit alpha IAGP ORPHA:3206 HPO 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 ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LMOD3 leiomodin 3 IAGP ORPHA:171436 HPO 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 OMIM:600373 HPO 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 ORPHA:250984 HPO NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690
JBrowse link
G MAGEL2 MAGE family member L2 IAGP OMIM:176270 HPO 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 ORPHA:309282 HPO NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ORPHA:1340 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ORPHA:1340 HPO NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ORPHA:65759 HPO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP OMIM:176270 HPO 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 OMIM:176270 HPO
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP OMIM:250400 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MPZ myelin protein zero IAGP ORPHA:3115 HPO 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 OMIM:619127 HPO NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NDN necdin, MAGE family member IAGP OMIM:176270 HPO NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP OMIM:618913 HPO NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,767...95,116,455
JBrowse link
G NEB nebulin IAGP ORPHA:171436 HPO 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 OMIM:618853 HPO 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 OMIM:162200 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP OMIM:613330 HPO 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 OMIM:102500 HPO 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 OMIM:176270 HPO NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP OMIM:117550 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP OMIM:309000 ORPHA:534 HPO 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 OMIM:224690 HPO NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP OMIM:618493 HPO 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 ORPHA:742 HPO NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,791
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ORPHA:89936 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:3115 HPO 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 OMIM:619142 HPO 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 OMIM:619143 HPO 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 OMIM:619636 HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ORPHA:488627 HPO NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP OMIM:176270 HPO 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 OMIM:176270 HPO 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 OMIM:201000 ORPHA:65759 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP OMIM:615222 HPO NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ORPHA:1452 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SERPINH1 serpin family H member 1 IAGP OMIM:613848 HPO NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP OMIM:164210 HPO 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 OMIM:265900 HPO NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:240 ORPHA:314795 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SKI SKI proto-oncogene IAGP OMIM:182212 ORPHA:2462 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP OMIM:618363 HPO 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 ORPHA:56304 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP OMIM:176270 HPO 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 OMIM:176270 HPO NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP OMIM:176270 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SPART spartin IAGP ORPHA:101000 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP OMIM:619475 HPO NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO 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 OMIM:301066 HPO NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:131300 ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO 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 OMIM:259710 HPO 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 OMIM:271510 HPO NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:171436 HPO 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 ORPHA:502 HPO 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 OMIM:156530 OMIM:168400 OMIM:184095 HPO 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 ORPHA:300570 HPO 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 OMIM:618744 HPO NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562
JBrowse link
G VDR vitamin D receptor IAGP ORPHA:93160 HPO 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 OMIM:216550 ORPHA:193 HPO 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 ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ORPHA:261537 HPO 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 OMIM:619488 HPO NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
G ZPR1 ZPR1 zinc finger IAGP OMIM:619321 HPO NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039
JBrowse link
Genu varum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:608361 HPO 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 ORPHA:171436 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ORPHA:1777 HPO NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:251450 HPO NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CCN6 cellular communication network factor 6 IAGP OMIM:208230 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G CFL2 cofilin 2 IAGP ORPHA:171436 HPO NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 ORPHA:174 HPO NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:184255 ORPHA:85166 ORPHA:93315 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:166002 HPO 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 OMIM:600204 ORPHA:166002 HPO NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP ORPHA:289157 HPO 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 ORPHA:289157 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 IAGP OMIM:619073 HPO NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248
JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP OMIM:602557 ORPHA:93352 HPO NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ORPHA:289176 HPO NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G DYM dymeclin IAGP OMIM:223800 OMIM:607326 HPO NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP OMIM:617941 HPO NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP OMIM:613312 ORPHA:289176 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:100800 OMIM:146000 ORPHA:429 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FN1 fibronectin 1 IAGP OMIM:184255 HPO NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Genu varum ClinVar PMID:10984309 PMID:25741868 PMID:28492532 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP ORPHA:2796 HPO NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:99646 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 ORPHA:63446 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G KLHL41 kelch like family member 41 IAGP ORPHA:171436 HPO NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
JBrowse link
G LMOD3 leiomodin 3 IAGP ORPHA:171436 HPO NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
JBrowse link
G MATN3 matrilin 3 IAGP ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP OMIM:602111 ORPHA:2501 ORPHA:93356 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G NEB nebulin IAGP ORPHA:171436 HPO NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP OMIM:613330 HPO NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP OMIM:224690 HPO NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP OMIM:613803 HPO NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ORPHA:89936 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP OMIM:619636 HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO 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 OMIM:250460 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RPL13 ribosomal protein L13 IAGP OMIM:618728 HPO NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP DNA:duplication:exon:g.2061_2081dup RGD PMID:20335586 RGD:7242923 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ORPHA:2796 HPO NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP OMIM:271510 HPO NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:171436 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO 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 ORPHA:93314 HPO 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 OMIM:617974 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
G VDR vitamin D receptor IAGP ORPHA:93160 HPO NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP OMIM:615777 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Hypoplasia of proximal fibula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
Increased fibular diameter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC6 glypican 6 IAGP OMIM:258315 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP ORPHA:3144 HPO NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:3332 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:3332 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP ORPHA:3144 HPO NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148
JBrowse link
Irregular proximal tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
Lateral femoral bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP OMIM:239000 HPO NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
Long fibula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791
JBrowse link
G NANS N-acetylneuraminate synthase IAGP OMIM:610442 HPO NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
Peg-like central prominence of distal tibial metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
Proximal fibular overgrowth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:251450 HPO NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
Proximal tibial and fibular fusion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
Proximal tibial hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
Rudimentary fibula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Rudimentary fibula ClinVar PMID:25741868 PMID:27141300 PMID:28492532 PMID:31680349 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G FLNA filamin A IAGP OMIM:304120 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G SHOX short stature homeobox IAGP OMIM:249700 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
Rudimentary to absent tibiae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Short tibia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP OMIM:607143 HPO NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2098 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:251230 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G FLNB filamin B IAGP ORPHA:56305 HPO 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 OMIM:200700 OMIM:201250 ORPHA:2098 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPC6 glypican 6 IAGP OMIM:258315 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G INTU inturned planar cell polarity protein IAGP OMIM:617925 HPO NCBI chr 4:127,622,953...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO 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 OMIM:188740 OMIM:200500 ORPHA:3332 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:3332 ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 OMIM:249700 ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ORPHA:356961 HPO NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP ORPHA:1106 HPO NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
G TCTN3 tectonic family member 3 IAGP OMIM:258860 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
Small proximal tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
Tibial bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ORPHA:453510 HPO NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:1427 HPO NCBI chr 6:33,162,694...33,193,137
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:114000 OMIM:166210 OMIM:259420 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:166210 OMIM:259420 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93315 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO 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 OMIM:600081 ORPHA:289157 HPO NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ORPHA:289176 HPO NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:289176 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:85165 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G FLNA filamin A IAGP OMIM:304120 OMIM:309350 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP OMIM:108720 OMIM:108721 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FN1 fibronectin 1 IAGP ORPHA:93315 HPO NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GORAB golgin, RAB6 interacting IAGP OMIM:231070 HPO NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP OMIM:602111 ORPHA:93356 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP OMIM:610915 HPO NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO 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 OMIM:608940 HPO 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 homolog X-linked IAGP OMIM:307800 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:251028 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 ORPHA:798 HPO NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 ORPHA:240 ORPHA:314795 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP OMIM:206920 ORPHA:1106 HPO 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 ORPHA:140 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Tibial pseudarthrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP OMIM:162200
ClinVar Annotator: match by term: Tibial pseudarthrosis
ClinVar Annotator: match by term: Tibial pseudoarthrosis
HPO
ClinVar
PMID:1757093 PMID:1783401 PMID:2114220 PMID:7633431 PMID:7649559 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
Tibial torsion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ORPHA:36387 HPO NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP OMIM:618653 HPO NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ORPHA:33069 HPO NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:36387 HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ORPHA:36387 HPO NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP ORPHA:36387 HPO NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G PCDH19 protocadherin 19 IAGP ORPHA:33069 HPO NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G PRR12 proline rich 12 IAGP OMIM:619539 HPO NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ORPHA:36387 HPO NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ORPHA:36387 HPO NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ORPHA:36387 HPO NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ORPHA:36387 HPO NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:56304 HPO 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 OMIM:602782 HPO NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G STX1B syntaxin 1B IAGP ORPHA:36387 HPO NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,638
JBrowse link
Triangular tibia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EN1 engrailed homeobox 1 IAGP OMIM:619218 HPO NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648
JBrowse link
Wind-swept deformity of the knees term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14725
    Phenotypic abnormality 14722
      Abnormality of limbs 2350
        Abnormality of the lower limb 1734
          Abnormality of the calf 283
            Abnormality of fibula morphology + 54
            Abnormality of tibia morphology + 92
            Bowing of the legs + 226
paths to the root