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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:Skeletal muscle hypertrophy
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Accession:HP:0003712 term browser browse the term
Definition:Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
Comment:Increased muscle bulk based on clinical observation.
Synonyms:exact_synonym: Hypertrophic muscles;   Increased skeletal muscle cells;   Muscle hypertrophy;   Muscular hypertrophy
 xref: UMLS:C2265792


show annotations for term's descendants           Sort by:
 
Skeletal muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP OMIM:606072 HPO NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP OMIM:613327 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP OMIM:160800 OMIM:255700 HPO NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G DNM2 dynamin 2 IAGP OMIM:160150 HPO NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G FKTN fukutin IAGP OMIM:611588 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP OMIM:619566 HPO NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G LMNA lamin A/C IAGP OMIM:151660 ORPHA:2348 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MPZ myelin protein zero IAGP ORPHA:101082 HPO NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MSTN myostatin IAGP OMIM:614160 HPO NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP OMIM:160150 HPO NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G PLIN1 perilipin 1 IAGP OMIM:613877 HPO NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,975,149...78,029,515 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP OMIM:613157 HPO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP OMIM:613158 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ORPHA:99014 HPO NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP OMIM:168300 OMIM:608390 ORPHA:682 ORPHA:99736 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 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 SMAD4 SMAD family member 4 IAGP DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M
ORPHA:2588		 HPO
RGD		 PMID:22158539 RGD:12880042 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP OMIM:619714 HPO NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
Calf muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP OMIM:611307 OMIM:613319 ORPHA:206549 HPO NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G AR androgen receptor IAGP OMIM:313200 HPO NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BIN1 bridging integrator 1 IAGP ORPHA:169189 HPO NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CAPN3 calpain 3 IAGP ORPHA:267
ClinVar Annotator: match by term: Calf muscle hypertrophy		 HPO
ClinVar		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAV3 caveolin 3 IAGP OMIM:614321 HPO NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP OMIM:615048 HPO NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ORPHA:435651 HPO NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP OMIM:616052 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP ORPHA:280333 HPO NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,703...49,535,618 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP OMIM:618733 HPO NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DMD dystrophin IAGP ORPHA:98896
ClinVar Annotator: match by term: Calf muscle hypertrophy
ClinVar Annotator: match by term: Increased size of calf muscles		 HPO
ClinVar		 PMID:7581396 PMID:17041906 PMID:21969337 PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNM2 dynamin 2 IAGP ORPHA:169189 HPO NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP ORPHA:263494 HPO NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DYSF dysferlin IAGP ORPHA:268 ORPHA:45448 HPO NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FKRP fukutin related protein IAGP OMIM:606612 OMIM:607155 ORPHA:34515 ORPHA:370968 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:253800 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FRG1 FSHD region gene 1 IAGP OMIM:158900 HPO NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,870...189,963,202 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:370968 HPO NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP ORPHA:37612 HPO NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP OMIM:618138 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP ORPHA:370968 HPO NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP OMIM:616827 HPO NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LMNA lamin A/C IAGP ORPHA:79474 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ORPHA:98896 HPO NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP OMIM:617760 HPO NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP OMIM:615673 HPO NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ORPHA:169189 HPO NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP ORPHA:169189 HPO NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLIN1 perilipin 1 IAGP ORPHA:280356 HPO NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:101081 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP OMIM:618135 HPO NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP DNA:mutations: :multiple
ORPHA:370968 ORPHA:86812		 HPO
RGD		 PMID:16575835 RGD:11532686 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP ORPHA:206559 ORPHA:370968 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POPDC3 popeye domain containing 3 IAGP OMIM:618848 HPO NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:169189 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SGCA sarcoglycan alpha IAGP OMIM:608099 HPO NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP ORPHA:119 HPO NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP OMIM:601287 HPO NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGCG sarcoglycan gamma IAGP DNA:mutation:cds: c.787G>A (p.Glu263Lys)
ORPHA:353		 HPO
RGD		 PMID:25802879 RGD:13605619 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP OMIM:618197 HPO NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G TCAP titin-cap IAGP OMIM:601954 HPO NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TTN titin IAGP OMIM:603689 OMIM:611705 ORPHA:178464 HPO NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP OMIM:619178 HPO NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
Facial muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ORPHA:684 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Generalized muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ORPHA:99735 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SMAD4 SMAD family member 4 IAGP OMIM:139210 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP OMIM:235730 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Macroglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ORPHA:99886 HPO NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACTB actin beta IAGP ORPHA:79107 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		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 AGA aspartylglucosaminidase IAGP OMIM:208400 ORPHA:93 HPO NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ORPHA:528 HPO NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP ORPHA:963 HPO NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:201 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP ORPHA:79321 HPO NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ORPHA:79320 HPO NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP ORPHA:79325 HPO NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP OMIM:615809 HPO NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		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 ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP OMIM:616455 ORPHA:3473 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP OMIM:301040 OMIM:309580 ORPHA:847 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		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 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ORPHA:528 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		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 CAV1 caveolin 1 IAGP ORPHA:528 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP ORPHA:528 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP OMIM:618268 HPO NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CDCA7 cell division cycle associated 7 IAGP ORPHA:2268 HPO NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP OMIM:130650 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		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 CRPPA CDP-L-ribitol pyrophosphorylase A IAGP OMIM:616052 ORPHA:352479 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CUL4B cullin 4B IAGP OMIM:300354 HPO NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254528 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		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 DNMT3B DNA methyltransferase 3 beta IAGP OMIM:242860 ORPHA:2268 HPO NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Macroglossia ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ORPHA:95716 HPO 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 ORPHA:95716 HPO NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP OMIM:610253 ORPHA:96147 HPO NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		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 ERLIN2 ER lipid raft associated 2 IAGP ORPHA:280384 HPO NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G FDX2 ferredoxin 2 IAGP OMIM:251900 HPO NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,310,045...10,316,015 		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 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 FKRP fukutin related protein IAGP OMIM:606612 OMIM:607155 ORPHA:370959 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP ORPHA:528 HPO NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G FOXE1 forkhead box E1 IAGP ORPHA:95713 HPO NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FOXG1 forkhead box G1 IAGP ORPHA:261144 HPO NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP OMIM:612938 HPO NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP OMIM:230000 HPO NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GAA alpha glucosidase IAGP OMIM:232300 HPO NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,556...80,119,881 		JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLB1 galactosidase beta 1 IAGP ORPHA:79255 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:370959 HPO NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP OMIM:252500 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Lingual hypertrophy
OMIM:252940		 ClinVar
HPO		 PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 ORPHA:373 HPO 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 OMIM:312870 ORPHA:373 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP ORPHA:963 HPO NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		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 H19-ICR H19/IGF2 imprinting control region IAGP OMIM:130650 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HELLS helicase, lymphoid specific IAGP ORPHA:2268 HPO NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,501,434...94,613,905 		JBrowse link
G HESX1 HESX homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP OMIM:268800 HPO NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP ORPHA:352665 HPO NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,616 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:218040 ORPHA:3071 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		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 HYMAI hydatidiform mole associated and imprinted IAGP ORPHA:99886 HPO NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G IDS iduronate 2-sulfatase IAGP OMIM:309900 ORPHA:217085 ORPHA:217093 HPO 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 ORPHA:93473 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:266920 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:130650 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP OMIM:618523 HPO NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP OMIM:213300 HPO NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G INSR insulin receptor IAGP ORPHA:769 HPO NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		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 IYD iodotyrosine deiodinase IAGP ORPHA:95716 HPO NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:3473 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ORPHA:99886 HPO NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP OMIM:618729 HPO NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ORPHA:3473 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP OMIM:130650 HPO NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP OMIM:130650 HPO NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ORPHA:201 HPO NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ORPHA:258 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP OMIM:608840 HPO NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ORPHA:226307 HPO 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 ORPHA:226307 HPO NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		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 MAN2B1 mannosidase alpha class 2B member 1 IAGP OMIM:248500 ORPHA:309282 ORPHA:309288 HPO NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MED13L mediator complex subunit 13L IAGP ORPHA:369891 HPO NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254528 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		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 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 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ORPHA:254864 HPO NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		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 NKX2-1 NK2 homeobox 1 IAGP ORPHA:95713 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:95712 ORPHA:95713 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G PAX8 paired box 8 IAGP OMIM:218700 ORPHA:95712 ORPHA:95713 ORPHA:95720 HPO NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP OMIM:214100 HPO NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP OMIM:618143 HPO NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP OMIM:616025 HPO NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP OMIM:618440 HPO NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:201 HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ORPHA:99886 HPO NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ORPHA:370959 HPO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP ORPHA:370959 HPO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP OMIM:613155 ORPHA:370959 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP OMIM:613150 OMIM:613156 ORPHA:370959 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP OMIM:617396 HPO NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ORPHA:528 HPO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ORPHA:93947 HPO NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP OMIM:261740 HPO NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,125 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP OMIM:256040 HPO NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:201 ORPHA:65285 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		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 RNF125 ring finger protein 125 IAGP OMIM:616260 HPO NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:254528 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ORPHA:201 HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ORPHA:201 HPO NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ORPHA:201 HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP ORPHA:201 HPO NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		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 SGCG sarcoglycan gamma IAGP ORPHA:353 HPO NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ORPHA:95713 ORPHA:95720 HPO NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP OMIM:274400 ORPHA:95716 HPO NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP OMIM:614501 HPO NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP OMIM:105830 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SNX14 sorting nexin 14 IAGP ORPHA:397709 HPO NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		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 TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP ORPHA:488632 HPO NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		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 TG thyroglobulin IAGP ORPHA:95716 HPO NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G THRA thyroid hormone receptor alpha IAGP OMIM:614450 HPO NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		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 TPO thyroid peroxidase IAGP ORPHA:95716 HPO NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP OMIM:615527 HPO NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP ORPHA:254864 HPO NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP OMIM:275100 ORPHA:90674 HPO 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 ORPHA:90673 ORPHA:95713 ORPHA:95720 HPO NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP OMIM:105830 HPO NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP ORPHA:201 HPO NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP ORPHA:505248 HPO NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494 		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 WNT5A Wnt family member 5A IAGP OMIM:180700 HPO NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP ORPHA:2268 HPO NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,462,594...109,483,219 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP ORPHA:99886 HPO NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Marked muscular hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIDEC cell death inducing DFFA like effector c IAGP ORPHA:435651 HPO NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP OMIM:300280 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ORPHA:435660 HPO NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ORPHA:79083 HPO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
Muscle hypertrophy of the lower extremities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 IAGP OMIM:255700 HPO NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G LMNA lamin A/C IAGP ORPHA:280365 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SRY sex determining region Y IAGP ORPHA:1772 HPO NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
Neck muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ORPHA:420492 HPO NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
Proximal upper limb muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP ORPHA:280365 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
Thigh hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP OMIM:606612 OMIM:607155 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:86812 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
Triangular tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIMS2 LIM zinc finger domain containing 2 IAGP OMIM:616827 HPO NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14724
    Phenotypic abnormality 14721
      Abnormality of the musculoskeletal system 4009
        Abnormality of the musculature 2906
          Abnormal skeletal muscle morphology 1848
            Abnormality of muscle size 682
              Skeletal muscle hypertrophy 206
                Facial muscle hypertrophy 1
                Generalized muscle hypertrophy 3
                Macroglossia + 154
                Marked muscular hypertrophy 4
                Muscle hypertrophy of the lower extremities + 47
                Neck muscle hypertrophy 1
                Paraspinal muscle hypertrophy 0
                Scapular muscle hypertrophy 0
                Upper limb muscle hypertrophy + 2
paths to the root