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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:Short stature
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Accession:HP:0004322 term browser browse the term
Definition:A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:exact_synonym: Decreased body height;   Height less than 3rd percentile;   Small stature;   Stature below 3rd percentile
 alt_id: HP:0001509;   HP:0003501;   HP:0003507;   HP:0003512;   HP:0003518;   HP:0003519;   HP:0008871;   HP:0008882;   HP:0008888;   HP:0008913
 xref: SNOMEDCT_US:237836003;   UMLS:C0349588


show annotations for term's descendants           Sort by:
Short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO OMIM:231550 ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:616339 ORPHA:442835 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:2203 ORPHA:3124 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO OMIM:601847 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO ORPHA:241 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO OMIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:388 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ABCG4 ATP binding cassette subfamily G member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653 		JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO OMIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACAN aggrecan IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACER3 alkaline ceramidase 3 IAGP HPO OMIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACRV1 acrosomal vesicle protein 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,671,522...125,680,847
Ensembl chr11:125,671,522...125,680,874 		JBrowse link
G ACTB actin beta IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:243310 ORPHA:79107 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO OMIM:614583 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ACTL6B actin like 6B IAGP HPO ORPHA:442835 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO OMIM:277600 ORPHA:3449 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO OMIM:613195 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO OMIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,404,923...130,428,609
Ensembl chr11:130,404,923...130,428,609 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO OMIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP HPO OMIM:618862 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO OMIM:615286 ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRB3 adhesion G protein-coupled receptor B3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:68,635,282...69,389,506
Ensembl chr 6:68,635,282...69,390,571 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO OMIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO OMIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF2 ALF transcription elongation factor 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:309548 ORPHA:100973 NCBI chr  X:148,500,617...149,000,663
Ensembl chr  X:148,500,617...149,000,663 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO OMIM:616368 ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO OMIM:616577 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO OMIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase IAGP HPO OMIM:232400 ORPHA:366 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP HPO ORPHA:2850 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO OMIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:219150 OMIM:601162 OMIM:616586 ORPHA:447760 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO OMIM:270200 ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO OMIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 ORPHA:313 ORPHA:79394 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO OMIM:205100 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO OMIM:615686 ORPHA:401805 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO OMIM:618625 ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ANGPT2 angiopoietin 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO OMIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO OMIM:616681 ORPHA:2512 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP DNA:mutations:CDS:multiple
DNA:deletions, SNPs:CDS:multiple		 HPO
RGD		 PMID:25424714 PMID:21782149 OMIM:148050 ORPHA:2332, RGD:11086621, RGD:11068938 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP HPO OMIM:619504 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP001993.1 novel transcript IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:127,067,002...127,101,306
Ensembl chr11:127,021,736...127,172,363 		JBrowse link
G AP1B1 adaptor related protein complex 1 subunit beta 1 IAGP HPO OMIM:242150 NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO ORPHA:85329 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO ORPHA:442835 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO OMIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO OMIM:613744 ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO OMIM:614067 ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811 		JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA4 apolipoprotein A4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOA5 apolipoprotein A5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G APOC3 apolipoprotein C3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G AQP2 aquaporin 2 IAGP HPO OMIM:125800 ORPHA:223 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:128,965,060...129,279,632
Ensembl chr11:128,965,060...129,279,324 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,336,413...120,489,937
Ensembl chr11:120,336,413...120,489,937 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO OMIM:614607 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:9536098 PMID:15057123 PMID:17576681 PMID:22405089 PMID:25741868 More... OMIM:135900 ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO OMIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO OMIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO OMIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSL arylsulfatase L IAGP HPO OMIM:302950 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP HPO ORPHA:442835 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO OMIM:300004 ORPHA:2508 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO OMIM:608716 ORPHA:2512 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO OMIM:208900 ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:442835 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:442835 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO OMIM:618120 ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO OMIM:278250 ORPHA:2834 ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 ORPHA:442835 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO OMIM:616455 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO OMIM:617402 ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO OMIM:309400 ORPHA:388 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 IAGP HPO ORPHA:1766 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO OMIM:211600 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 IAGP HPO ORPHA:254913 NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO ORPHA:808 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G ATRIP ATR interacting protein IAGP HPO ORPHA:808 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:309580 ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO OMIM:615834 ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP HPO OMIM:304800 ORPHA:223 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BACE1 beta-secretase 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259 		JBrowse link
G BACE1-AS BACE1 antisense RNA IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP HPO OMIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BARX2 BARX homeobox 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:129,375,233...129,452,279
Ensembl chr11:129,375,848...129,452,279 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO OMIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP HPO OMIM:617101 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:300166 ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP HPO ORPHA:893 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BGN biglycan IAGP HPO OMIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BLID BH3-like motif containing, cell death inducer IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,115,340...122,116,215
Ensembl chr11:122,115,340...122,116,215 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO OMIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:617877 ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2639 ORPHA:93384 ORPHA:93388 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO OMIM:617755 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 OMIM:163950 OMIM:613706 OMIM:613707 ORPHA:1340 ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO OMIM:617883 ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO OMIM:605724 ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G BRD4 bromodomain containing 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO OMIM:616202 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO OMIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G BSX brain specific homeobox IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,977,570...122,981,834
Ensembl chr11:122,977,570...122,981,834 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO OMIM:307200 ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO OMIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G BUD13 BUD13 homolog IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,748,173...116,772,987
Ensembl chr11:116,748,170...116,772,987 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G C18orf32 chromosome 18 open reading frame 32 IAGP HPO OMIM:619985 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO OMIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO OMIM:259730 ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CA8 carbonic anhydrase 8 IAGP HPO ORPHA:1766 NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:442835 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO ORPHA:442835 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:442835 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CADM1 cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:115,169,236...115,504,415
Ensembl chr11:115,169,218...115,504,957 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO OMIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAMK2G calcium/calmodulin dependent protein kinase II gamma IAGP HPO OMIM:618522 NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO OMIM:614756 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CAPN15 calpain 15 IAGP HPO OMIM:619318 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO OMIM:300749 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CASP8 caspase 8 IAGP HPO OMIM:607271 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:601198 ORPHA:417 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:612526 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:613563 ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO OMIM:619795 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164 		JBrowse link
G CCDC15 coiled-coil domain containing 15 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,954,202...125,041,489
Ensembl chr11:124,954,121...125,041,489 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO OMIM:614205 ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCNQ cyclin Q IAGP HPO OMIM:300707 ORPHA:140952 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CD96 CD96 molecule IAGP HPO OMIM:211750 ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO OMIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997 		JBrowse link
G CDH3 cadherin 3 IAGP HPO ORPHA:1573 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 IAGP HPO OMIM:615631 NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO OMIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO OMIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO ORPHA:442835 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP HPO OMIM:604804 ORPHA:2512 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170 		JBrowse link
G CDK6 cyclin dependent kinase 6 IAGP HPO ORPHA:2512 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:436144 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:95496 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CDSN corneodesmosin IAGP HPO OMIM:270300 NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO ORPHA:442835 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793 		JBrowse link
G CENPE centromere protein E IAGP HPO OMIM:616051 ORPHA:2512 ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G CENPJ centromere protein J IAGP HPO ORPHA:2512 ORPHA:808 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP135 centrosomal protein 135 IAGP HPO ORPHA:2512 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO OMIM:613823 ORPHA:2512 ORPHA:808 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 ORPHA:3156 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO OMIM:614114 ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO OMIM:614728 ORPHA:2512 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CEP76 centrosomal protein 76 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:12,661,956...12,702,777
Ensembl chr18:12,661,833...12,702,777 		JBrowse link
G CERS3 ceramide synthase 3 IAGP HPO ORPHA:79394 NCBI chr15:100,400,395...100,544,683
Ensembl chr15:100,400,395...100,544,995 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 OMIM:617547 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO OMIM:616209 ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 1:147,172,747...147,295,762
Ensembl chr 1:147,242,654...147,295,765 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO OMIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHEK1 checkpoint kinase 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
G CHKA choline kinase alpha IAGP HPO OMIM:620023 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP HPO ORPHA:199318 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP HPO OMIM:617090 ORPHA:2512 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 More... NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:308990 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO OMIM:618541 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLDN16 claudin 16 IAGP HPO OMIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CLGN calmegin IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:140,388,453...140,427,648
Ensembl chr 4:140,388,453...140,427,661 		JBrowse link
G CLIC4 chloride intracellular channel 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:24,745,447...24,844,321
Ensembl chr 1:24,745,382...24,844,321 		JBrowse link
G CLIP1 CAP-Gly domain containing linker protein 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:122,271,469...122,422,956
Ensembl chr12:122,271,432...122,422,669 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CLMP CXADR like membrane protein IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 ORPHA:2301 NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248 		JBrowse link
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP HPO OMIM:614129 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO ORPHA:442835 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP HPO ORPHA:2116 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO ORPHA:442835 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO OMIM:619033 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COA3 cytochrome c oxidase assembly factor 3 IAGP HPO OMIM:619058 NCBI chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO OMIM:618150 ORPHA:85172 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO OMIM:613612 ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:25741868 PMID:28492532 OMIM:154780 ORPHA:2021 ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO OMIM:215150 ORPHA:2021 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:166220 OMIM:619115 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 ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:28492532 PMID:30311386 OMIM:166220 OMIM:619120 ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO OMIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:missense mutation:cds:p.P986L
ClinVar Annotator: match by term: Short stature		 HPO
ClinVar
RGD		 PMID:25741868 PMID:21204228 OMIM:132450 OMIM:150600 OMIM:184255 OMIM:271700 OMIM:604864 OMIM:616583 OMIM:619248 ORPHA:166011 ORPHA:2380 ORPHA:85198 ORPHA:93296 ORPHA:93315, RGD:8657353 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO OMIM:130050 ORPHA:2500 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO OMIM:255600 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614134 ORPHA:166002 ORPHA:250984 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:614284 ORPHA:166002 ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:166002 ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO OMIM:248340 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO ORPHA:2512 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 IAGP HPO OMIM:619060 NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:300887 OMIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO OMIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CPZ carboxypeptidase Z IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:8,592,765...8,619,752
Ensembl chr 4:8,592,660...8,619,759 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO OMIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CRTAM cytotoxic and regulatory T cell molecule IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,838,500...122,872,643
Ensembl chr11:122,838,500...122,872,643 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO OMIM:610682 ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO OMIM:612199 ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO OMIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO OMIM:604168 ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CTNNA2 catenin alpha 2 IAGP HPO OMIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G CTNND2 catenin delta 2 IAGP HPO ORPHA:281 NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTSK cathepsin K IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 OMIM:265800 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 OMIM:300354 ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CUL7 cullin 7 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:273750 ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CUX1 cut like homeobox 1 IAGP HPO OMIM:618330 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958 		JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP HPO OMIM:250410 ORPHA:166035 NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO ORPHA:442835 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO OMIM:202010 ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO OMIM:139300 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO ORPHA:313 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO ORPHA:442835 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DCPS decapping enzyme, scavenger IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DDC dopa decarboxylase IAGP HPO ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO OMIM:615033 ORPHA:320380 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G DDX25 DEAD-box helicase 25 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DENND4B DENN domain containing 4B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 1:153,929,501...153,946,894
Ensembl chr 1:153,929,501...153,946,718 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO OMIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO OMIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO OMIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO OMIM:617836 ORPHA:442835 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHPS deoxyhypusine synthase IAGP HPO OMIM:618480 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Short stature
ClinVar Annotator: match by term: Stature below 3rd percentile		 ClinVar PMID:25741868 PMID:28327206 PMID:29100085 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DHX34 DExH-box helicase 34 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:31256877 NCBI chr19:47,349,315...47,382,704
Ensembl chr19:47,349,315...47,382,704 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO OMIM:616632 ORPHA:477814 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:305000 ORPHA:1775 ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96184 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO OMIM:277300 ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO OMIM:616113 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO OMIM:615807 ORPHA:808 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396 		JBrowse link
G DNAH17-AS1 DNAH17 antisense RNA 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr17:78,484,910...78,503,056
Ensembl chr17:78,484,882...78,503,056 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO OMIM:260400 OMIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO OMIM:616192 ORPHA:445062 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNM1 dynamin 1 IAGP HPO ORPHA:442835 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:242860 ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DOLK dolichol kinase IAGP HPO ORPHA:91131 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:31407851 OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO OMIM:618027 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO OMIM:616901 ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32576952 OMIM:620062 ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO OMIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP HPO OMIM:616311 ORPHA:2514 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285 		JBrowse link
G DPRX divergent-paired related homeobox IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:53,601,114...53,637,014
Ensembl chr19:53,600,777...53,637,014 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO OMIM:619435 ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO ORPHA:101003 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP HPO OMIM:619847 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 OMIM:616331 ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:616894 ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 IAGP HPO OMIM:618492 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO OMIM:613091 ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO OMIM:615503 ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO OMIM:617088 ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO OMIM:617405 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO OMIM:614104 ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO OMIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:300960 ORPHA:35173 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO ORPHA:388 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:388 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:388 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO ORPHA:442835 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO OMIM:617941 ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO OMIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP DNA:mutations:multiple HPO
RGD		 PMID:22305528 OMIM:610536 ORPHA:79113, RGD:10045557 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,569,477...125,584,684
Ensembl chr11:125,569,280...125,584,684 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EIF3F eukaryotic translation initiation factor 3 subunit F IAGP HPO OMIM:618295 NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO OMIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ELP2 elongator acetyltransferase complex subunit 2 IAGP HPO OMIM:617270 NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:208000 OMIM:613312 ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:180849 OMIM:613684 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO ORPHA:388 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO ORPHA:388 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:601675 ORPHA:1466 ORPHA:220295 ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO OMIM:610651 OMIM:616390 ORPHA:220295 ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:278760 OMIM:615272 ORPHA:220295 ORPHA:84 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 ORPHA:220295 ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO OMIM:617180 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO OMIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO OMIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP DNA:mutation:exon:c.1678G>T(human) RGD PMID:29229899 RGD:155260290 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO OMIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO OMIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO OMIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO OMIM:133700 ORPHA:321 ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO OMIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:2792 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:25741868 PMID:28492532 OMIM:602361 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G FAM118B family with sequence similarity 118 member B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,211,724...126,262,987
Ensembl chr11:126,211,724...126,262,984 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO OMIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP HPO OMIM:300261 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FANCA FA complementation group A IAGP HPO OMIM:227650 ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO OMIM:227645 ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO OMIM:227646 ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO OMIM:600901 ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO OMIM:603467 ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO OMIM:609053 ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:438178 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO OMIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO OMIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3437 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 OMIM:184900 OMIM:608328 OMIM:614185 ORPHA:2084 ORPHA:2833 ORPHA:3449 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBRS fibrosin IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:30,658,431...30,670,810
Ensembl chr16:30,658,431...30,670,810 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP HPO OMIM:606220 NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO OMIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO ORPHA:442835 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,442,881...125,496,265
Ensembl chr11:125,442,881...125,592,568 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO ORPHA:442835 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO ORPHA:442835 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FGF18 fibroblast growth factor 18 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO OMIM:193100 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:147950 ORPHA:220386 ORPHA:280200 ORPHA:3157 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101400 ORPHA:794 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8640234 More... OMIM:602849 ORPHA:794 ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... OMIM:259450 OMIM:610968 ORPHA:2771 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FLCN folliculin IAGP HPO OMIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... OMIM:304120 OMIM:311300 ORPHA:2301 ORPHA:2484 ORPHA:75497 ORPHA:88630 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 ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:150250 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:261483 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FN1 fibronectin 1 IAGP HPO OMIM:184255 ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO ORPHA:95713 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 HPO ORPHA:442835 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO OMIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP HPO OMIM:618822 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486 		JBrowse link
G FXYD6-FXYD2 FXYD6-FXYD2 readthrough IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:28492532 ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO ORPHA:442835 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More... OMIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:442835 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO ORPHA:442835 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO ORPHA:442835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO ORPHA:442835 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GABRE gamma-aminobutyric acid type A receptor subunit epsilon IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:151,953,124...151,974,676
Ensembl chr  X:151,953,124...151,974,680 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:442835 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO OMIM:618885 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:619042 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:231000 ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:113100 OMIM:615072 ORPHA:2639 ORPHA:63442 ORPHA:93384 ORPHA:93388 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:388 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP HPO OMIM:619518 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
G GH1 growth hormone 1 IAGP short stature, idiopathic, autosomal,OMIM:604271;DNA:point mutation:exon:C53S HPO
RGD		 PMID:15713716 OMIM:612781, RGD:1601312 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP DNA:missense mutations:cds:
ClinVar Annotator: match by term: Short stature		 HPO
ClinVar
RGD		 PMID:10984309 PMID:25741868 PMID:28492532 PMID:7565946 OMIM:604271 ORPHA:314802, RGD:1601316 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP DNA:mutation:cds:p.A204E(human) HPO
RGD		 PMID:16511605 OMIM:615925 ORPHA:314811, RGD:1625252 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GINS1 GINS complex subunit 1 IAGP HPO OMIM:617827 NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:257850 ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO OMIM:129500 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GK glycerol kinase IAGP HPO OMIM:307030 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230650 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:1486 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO OMIM:618123 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 OMIM:615849 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GM2A ganglioside GM2 activator IAGP HPO ORPHA:309246 NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:11784876 PMID:12970262 PMID:21525160 PMID:23281139 PMID:23796510 More... OMIM:103580 OMIM:612462 OMIM:612463 ORPHA:79443 ORPHA:79444 ORPHA:79445 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252600 ORPHA:423461 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP HPO OMIM:618721 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:2662 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPC6 glypican 6 IAGP HPO ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 IAGP HPO OMIM:614480 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP HPO ORPHA:95496 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G GRAMD1B GRAM domain containing 1B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,358,422...123,627,767
Ensembl chr11:123,358,428...123,627,774 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP HPO OMIM:616029 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO OMIM:300699 ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP HPO OMIM:617864 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,511,748...120,988,906
Ensembl chr11:120,511,746...120,988,906 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO OMIM:245570 ORPHA:289266 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO ORPHA:442835 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO OMIM:614831 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO OMIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G GSC goosecoid homeobox IAGP HPO OMIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO OMIM:616943 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO OMIM:616395 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G GYS2 glycogen synthase 2 IAGP HPO ORPHA:2089 NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847 		JBrowse link
G GZF1 GDNF inducible zinc finger protein 1 IAGP HPO OMIM:617662 NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,182...23,373,062 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:231140 ORPHA:231144 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G H2AP H2A.P histone IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:37,990,779...37,991,314
Ensembl chr  X:37,990,779...37,991,314 		JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H3-3B H3.3 histone B IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:33268356 PMID:34876591 OMIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G H4C11 H4 clustered histone 11 IAGP HPO OMIM:619759 NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO OMIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO OMIM:616756 ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO OMIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HCFC1 host cell factor C1 IAGP HPO OMIM:309541 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:442835 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO OMIM:600430 ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO OMIM:300882 ORPHA:199 ORPHA:3459 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO OMIM:620072 ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,919,250...124,920,677
Ensembl chr11:124,919,250...124,920,677 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:613686 ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO OMIM:182230 ORPHA:3157 ORPHA:95496 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HKDC1 hexokinase domain containing 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO OMIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO OMIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HMGB3 high mobility group box 3 IAGP HPO OMIM:300915 NCBI chr  X:150,980,507...150,990,771
Ensembl chr  X:150,980,509...150,990,771 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:2578 ORPHA:261265 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO OMIM:616026 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:52430 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO ORPHA:52430 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO OMIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO ORPHA:238769 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93387 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO OMIM:300322 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:163200 OMIM:218040 ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP HPO OMIM:218030 ORPHA:320 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO OMIM:233400 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 ORPHA:1606 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO OMIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 ORPHA:67041 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616007 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 OMIM:607015 ORPHA:93473 ORPHA:93476 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO OMIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:615630 ORPHA:110 ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:614099 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO OMIM:617102 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO OMIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO OMIM:300472 ORPHA:52055 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO OMIM:608747 ORPHA:73272 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:270450 ORPHA:73273 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:616489 ORPHA:231140 ORPHA:231144 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 OMIM:607778 ORPHA:63446 ORPHA:93388 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO OMIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO OMIM:617404 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G INSR insulin receptor IAGP HPO OMIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO OMIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G INTS8 integrator complex subunit 8 IAGP HPO OMIM:618572 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO OMIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G INVS inversin IAGP HPO ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G IQSEC1 IQ motif and Sec7 domain ArfGEF 1 IAGP HPO OMIM:618687 NCBI chr 3:12,897,043...13,283,257
Ensembl chr 3:12,897,043...13,283,281 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G IRS4 insulin receptor substrate 4 IAGP HPO OMIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO OMIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO ORPHA:2850 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:54,748,918...54,798,255
Ensembl chr  X:54,748,918...54,798,255 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP HPO OMIM:616022 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO OMIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,092 		JBrowse link
G JHY junctional cadherin complex regulator IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,882,759...122,963,862
Ensembl chr11:122,882,683...122,963,862 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO OMIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO ORPHA:442835 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNA4 potassium voltage-gated channel subfamily A member 4 IAGP HPO OMIM:618284 NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO ORPHA:442835 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO ORPHA:98768 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:48,961,380...48,971,844
Ensembl chr  X:48,961,378...48,971,844 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:612780 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO OMIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNJ5-AS1 KCNJ5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:128,899,565...128,906,231
Ensembl chr11:128,899,565...128,906,044 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO OMIM:618596 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO OMIM:616728 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM3B lysine demethylase 3B IAGP HPO OMIM:618846 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 OMIM:300867 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO OMIM:619476 ORPHA:2754 ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO OMIM:617914 ORPHA:2512 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:614213 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KIF23 kinesin family member 23 IAGP HPO ORPHA:98870 NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:166024 ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO ORPHA:66629 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,423,358...127,000,870
Ensembl chr11:126,423,358...127,003,460 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO OMIM:176400 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP HPO OMIM:613673 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:605130 ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO OMIM:617284 ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 OMIM:620186 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KNL1 kinetochore scaffold 1 IAGP HPO ORPHA:2512 NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 OMIM:609942 ORPHA:1340 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT10 keratin 10 IAGP HPO OMIM:609165 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KYNU kynureninase IAGP HPO OMIM:617661 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO OMIM:303350 ORPHA:2466 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 IAGP HPO OMIM:610798 ORPHA:90023 NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP HPO ORPHA:3459 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Stature below 3rd percentile ClinVar
HPO		 PMID:25741868 PMID:30905398 OMIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:94063 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LEPR leptin receptor IAGP HPO OMIM:614963 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:609813 ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 IAGP HPO OMIM:620007 NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084 		JBrowse link
G LHX1 LIM homeobox 1 IAGP HPO ORPHA:261265 NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO OMIM:221750 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO OMIM:262700 ORPHA:95496 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LINC02873 long intergenic non-protein coding RNA 2873 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,672,956...130,717,352
Ensembl chr11:130,672,956...130,717,352 		JBrowse link
G LIPN lipase family member N IAGP HPO ORPHA:313 NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:988 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO OMIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... ORPHA:79474 ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:619179 ORPHA:2514 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2613 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:21,380,044...21,451,047 JBrowse link
G LOC105370589 uncharacterized LOC105370589 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:78,703,615...78,709,960
Ensembl chr14:78,703,615...78,709,934 		JBrowse link
G LOC122056818 Sharpr-MPRA regulatory region 8387 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:29,324,962...29,325,991 JBrowse link
G LOC123620094 Sharpr-MPRA regulatory region 1078 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 6:35,238,812...35,239,106 JBrowse link
G LOC126805641 BRD4-independent group 4 enhancer GRCh37_chr1:19446050-19447249 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:19,119,556...19,120,755 JBrowse link
G LOC126805726 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32576952 NCBI chr 1:43,971,353...43,972,882 JBrowse link
G LOC126859661 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33308444 NCBI chr 6:35,243,292...35,244,491 JBrowse link
G LOC126860950 MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:69,231,834...69,233,372 JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC129931343 ATAC-STARR-seq lymphoblastoid active region 1622 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:31089205 NCBI chr 1:145,977,432...145,977,521 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G LOC130067016 ATAC-STARR-seq lymphoblastoid silent region 13504 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr22:20,982,365...20,982,494 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:28492532 OMIM:600373 ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO OMIM:259770 ORPHA:2788 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:2850 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO OMIM:619451 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) HPO
RGD		 PMID:22539340 OMIM:614819 ORPHA:3449, RGD:243049250 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO OMIM:601216 OMIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Short stature
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)		 ClinVar
HPO
RGD		 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... OMIM:605275 OMIM:616564 ORPHA:648, RGD:151708718 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO OMIM:617243 ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO OMIM:601088 ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 OMIM:615547 ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MALT1 MALT1 paracaspase IAGP HPO OMIM:615468 NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO OMIM:614202 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP HPO OMIM:620651 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 OMIM:615279 ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:615280 ORPHA:1340 ORPHA:638 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:32721402 ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO OMIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO OMIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO OMIM:616734 ORPHA:2505 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP HPO OMIM:618273 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:607078 ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO OMIM:156200 ORPHA:228402 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 IAGP HPO OMIM:618392 NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP HPO OMIM:618124 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297 		JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP HPO OMIM:609981 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP HPO ORPHA:2512 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP HPO OMIM:616185 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MCPH1 microcephalin 1 IAGP DNA:insertion:exon:c.427insA
ClinVar Annotator: match by term: Short stature		 HPO
ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 PMID:12046007 OMIM:251200 ORPHA:2512, RGD:9589021 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO OMIM:618681 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO OMIM:312750 ORPHA:1762 ORPHA:3077 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 OMIM:305450 ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MED24 mediator complex subunit 24 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr17:40,019,104...40,054,408
Ensembl chr17:40,019,097...40,061,215 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96184 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO OMIM:600987 ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO OMIM:277300 ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G METTL5 methyltransferase 5, N6-adenosine IAGP HPO ORPHA:2512 NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931 		JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO ORPHA:2512 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:212066 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MGP matrix Gla protein IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:37923733 ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MIR100 microRNA 100 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,152,229...122,152,308
Ensembl chr11:122,152,229...122,152,308 		JBrowse link
G MIR125B1 microRNA 125b-1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,099,757...122,099,844
Ensembl chr11:122,099,757...122,099,844 		JBrowse link
G MIR17HG miR-17-92a-1 cluster host gene IAGP HPO ORPHA:391646 NCBI chr13:91,347,820...91,354,575
Ensembl chr13:91,347,686...91,397,592 		JBrowse link
G MIRLET7A2 microRNA let-7a-2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,146,522...122,146,593
Ensembl chr11:122,146,522...122,146,593 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO OMIM:617306 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 ORPHA:2473 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO OMIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:250400 ORPHA:1040 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO OMIM:619090 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3319 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO OMIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO OMIM:618499 ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP HPO ORPHA:251347 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP HPO OMIM:619025 NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339 		JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,766,498...124,800,406
Ensembl chr11:124,766,498...124,800,706 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 IAGP HPO OMIM:616834 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO OMIM:617675 ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP HPO ORPHA:551 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:551 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... ORPHA:324525 ORPHA:550 ORPHA:551 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TP mitochondrially encoded tRNA-Pro (CCN) IAGP HPO ORPHA:551 NCBI chr MT:15,956...16,023
Ensembl chr MT:15,956...16,023 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 ORPHA:551 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTA3 metastasis associated 1 family member 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:42,494,110...42,756,946
Ensembl chr 2:42,494,569...42,756,947 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... OMIM:614947 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase IAGP HPO OMIM:618367 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP HPO OMIM:250940 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTX2 metaxin 2 IAGP HPO OMIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:610377 ORPHA:29 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MXRA5 matrix remodeling associated 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:3,308,565...3,346,652
Ensembl chr  X:3,308,565...3,346,652 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:618436 ORPHA:1147 ORPHA:2053 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:255160 ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 OMIM:158300 ORPHA:3377 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,817...10,684,235 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO OMIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYO5B myosin VB IAGP HPO OMIM:619868 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO OMIM:618116 ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G N4BP2L2 NEDD4 binding protein 2 like 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr13:32,432,485...32,538,868
Ensembl chr13:32,432,417...32,538,885 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO OMIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1147 ORPHA:2053 ORPHA:371364 ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NAT8L N-acetyltransferase 8 like IAGP HPO OMIM:614063 NCBI chr 4:2,059,327...2,069,089
Ensembl chr 4:2,059,327...2,069,089 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO OMIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 IAGP HPO OMIM:617983 NCBI chr12:6,494,102...6,531,955
Ensembl chr12:6,493,356...6,531,955 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 IAGP HPO OMIM:617984 ORPHA:2512 NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO OMIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		JBrowse link
G NCDN neurochondrin IAGP HPO OMIM:619373 NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO OMIM:605013 OMIM:614019 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 IAGP HPO OMIM:616116 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211 		JBrowse link
G NDUFA4 NDUFA4 mitochondrial complex associated IAGP HPO OMIM:619065 NCBI chr 7:10,931,943...10,940,153
Ensembl chr 7:10,931,943...10,940,153 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO OMIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP HPO ORPHA:442835 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO OMIM:252100 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:162200 OMIM:193520 OMIM:601321 ORPHA:139474 ORPHA:363700 ORPHA:638 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP HPO OMIM:617744 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NFRKB nuclear factor related to kappaB binding protein IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:129,863,636...129,895,578
Ensembl chr11:129,863,636...129,895,590 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,185,475...119,190,213
Ensembl chr11:119,185,457...119,190,223 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NIN ninein IAGP HPO ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 ORPHA:95713 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 HPO ORPHA:95712 ORPHA:95713 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO OMIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:191900 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NOG noggin IAGP HPO ORPHA:1412 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:102500 ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO OMIM:130720 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP4 nephrocystin 4 IAGP HPO ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 OMIM:613224 ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO OMIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NRGN neurogranin IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210 		JBrowse link
G NRTN neurturin IAGP HPO ORPHA:388 NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324 		JBrowse link
G NRXN3 neurexin 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:78,170,373...79,868,291
Ensembl chr14:78,170,373...79,868,291 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP associated with Growth Disorders;DNA:duplications:multiple HPO
RGD		 PMID:23599694 ORPHA:228415, RGD:9590157 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 OMIM:619695 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO OMIM:611091 ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO ORPHA:442835 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33721060 NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:618348 ORPHA:2065 ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP37 nucleoporin 37 IAGP HPO ORPHA:2512 NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120 		JBrowse link
G NUP85 nucleoporin 85 IAGP HPO OMIM:618176 ORPHA:808 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G NXN nucleoredoxin IAGP HPO OMIM:618529 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G NXPE2 neurexophilin and PC-esterase domain family member 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:114,464,276...114,813,702
Ensembl chr11:114,678,527...114,707,069 		JBrowse link
G NXPE4 neurexophilin and PC-esterase domain family member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:114,570,591...114,678,250
Ensembl chr11:114,570,591...114,595,786 		JBrowse link
G OAF out at first homolog IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,211,032...120,230,334
Ensembl chr11:120,211,032...120,230,334 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Stature below 3rd percentile ClinVar
HPO		 PMID:19481195 PMID:25741868 OMIM:612921 ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300804 OMIM:311200 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OGDH oxoglutarate dehydrogenase IAGP HPO ORPHA:31 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066 		JBrowse link
G OR10G4 olfactory receptor family 10 subfamily G member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,012,997...124,018,732
Ensembl chr11:124,012,997...124,018,732 		JBrowse link
G OR10G7 olfactory receptor family 10 subfamily G member 7 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,036,013...124,041,325
Ensembl chr11:124,036,013...124,041,325 		JBrowse link
G OR10G8 olfactory receptor family 10 subfamily G member 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,026,798...124,030,634
Ensembl chr11:124,026,798...124,030,634 		JBrowse link
G OR10G9 olfactory receptor family 10 subfamily G member 9 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,023,013...124,023,948
Ensembl chr11:124,023,013...124,023,948 		JBrowse link
G OR10S1 olfactory receptor family 10 subfamily S member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,976,661...123,977,781
Ensembl chr11:123,976,661...123,977,781 		JBrowse link
G OR4D5 olfactory receptor family 4 subfamily D member 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,939,617...123,940,573
Ensembl chr11:123,939,617...123,940,573 		JBrowse link
G OR6M1 olfactory receptor family 6 subfamily M member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,805,408...123,806,349
Ensembl chr11:123,805,408...123,806,349 		JBrowse link
G OR6T1 olfactory receptor family 6 subfamily T member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,942,867...123,943,838
Ensembl chr11:123,942,867...123,943,838 		JBrowse link
G OR6X1 olfactory receptor family 6 subfamily X member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,753,580...123,754,518
Ensembl chr11:123,753,580...123,754,518 		JBrowse link
G OR8A1 olfactory receptor family 8 subfamily A member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,569,997...124,571,374
Ensembl chr11:124,566,660...124,582,942 		JBrowse link
G OR8B12 olfactory receptor family 8 subfamily B member 12 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,542,722...124,543,654
Ensembl chr11:124,539,635...124,545,333 		JBrowse link
G OR8B2 olfactory receptor family 8 subfamily B member 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,382,394...124,397,320
Ensembl chr11:124,382,394...124,384,499 		JBrowse link
G OR8B3 olfactory receptor family 8 subfamily B member 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,395,534...124,409,807
Ensembl chr11:124,395,534...124,399,024 		JBrowse link
G OR8B4 olfactory receptor family 8 subfamily B member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,423,942...124,424,871
Ensembl chr11:124,423,942...124,424,871 		JBrowse link
G OR8B8 olfactory receptor family 8 subfamily B member 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,437,445...124,445,696
Ensembl chr11:124,437,445...124,445,696 		JBrowse link
G OR8D1 olfactory receptor family 8 subfamily D member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,302,831...124,313,949
Ensembl chr11:124,302,831...124,315,099 		JBrowse link
G OR8D2 olfactory receptor family 8 subfamily D member 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,319,262...124,320,197
Ensembl chr11:124,319,262...124,320,197 		JBrowse link
G OR8D4 olfactory receptor family 8 subfamily D member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,902,167...123,909,229
Ensembl chr11:123,902,167...123,909,229 		JBrowse link
G OR8G1 olfactory receptor family 8 subfamily G member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,241,095...124,254,364
Ensembl chr11:124,241,095...124,254,364 		JBrowse link
G OR8G5 olfactory receptor family 8 subfamily G member 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,256,376...124,266,224
Ensembl chr11:124,256,376...124,266,224 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO ORPHA:3204 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO OMIM:613800 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OSBP oxysterol binding protein IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr11:59,574,398...59,615,774
Ensembl chr11:59,574,398...59,615,774 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO OMIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO OMIM:617452 ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO OMIM:610125 OMIM:613986 ORPHA:3157 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO OMIM:112240 ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO ORPHA:442835 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,144,287...117,178,173
Ensembl chr11:117,144,284...117,176,894 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase IAGP HPO OMIM:619859 NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP HPO OMIM:300558 NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO OMIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PANX3 pannexin 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,611,428...124,620,356
Ensembl chr11:124,611,428...124,620,356 		JBrowse link
G PAPPA2 pappalysin 2 IAGP HPO OMIM:619489 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601 		JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO OMIM:612847 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:442835 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PATE1 prostate and testis expressed 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,746,279...125,749,867
Ensembl chr11:125,746,279...125,749,867 		JBrowse link
G PATE2 prostate and testis expressed 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,776,113...125,778,828
Ensembl chr11:125,776,113...125,778,828 		JBrowse link
G PATE3 prostate and testis expressed 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,788,127...125,791,600
Ensembl chr11:125,788,127...125,791,600 		JBrowse link
G PATE4 prostate and testis expressed 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,833,316...125,840,072
Ensembl chr11:125,833,316...125,840,072 		JBrowse link
G PAX1 paired box 1 IAGP HPO ORPHA:2792 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481 		JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 ORPHA:97362 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:893 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PAX8 paired box 8 IAGP HPO ORPHA:95712 ORPHA:95713 ORPHA:95720 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PBX1 PBX homeobox 1 IAGP HPO ORPHA:97362 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO OMIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO OMIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO OMIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PCNA proliferating cell nuclear antigen IAGP HPO OMIM:615919 ORPHA:438134 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO OMIM:608940 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP HPO OMIM:112410 ORPHA:1276 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PDZRN3 PDZ domain containing ring finger 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:73,382,431...73,624,941
Ensembl chr 3:73,382,431...73,624,941 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO OMIM:614886 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:616716 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 ORPHA:44 ORPHA:772 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO OMIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO OMIM:614207 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO OMIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PHC1 polyhomeotic homolog 1 IAGP HPO OMIM:615414 ORPHA:2512 NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHF20 PHD finger protein 20 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:35,772,015...35,950,370
Ensembl chr20:35,771,974...35,950,370 		JBrowse link
G PHF6 PHD finger protein 6 IAGP HPO OMIM:301900 ORPHA:127 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO OMIM:261750 ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO OMIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 OMIM:114300 OMIM:617146 ORPHA:376 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:31034465 OMIM:618440 ORPHA:557003 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 HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO OMIM:616005 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO OMIM:618889 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,221 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,164,751...125,433,389
Ensembl chr11:125,164,687...125,433,389 		JBrowse link
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLEC plectin IAGP HPO OMIM:226670 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO OMIM:616171 ORPHA:2518 ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO OMIM:609220 ORPHA:2771 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO OMIM:312080 ORPHA:280210 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP HPO OMIM:213200 ORPHA:1170 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 IAGP HPO ORPHA:79394 NCBI chr 6:36,243,168...36,313,955
Ensembl chr 6:36,243,203...36,313,955 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO OMIM:610717 ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO OMIM:245800 ORPHA:1173 ORPHA:2377 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:616364 ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301030 ORPHA:163976 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO OMIM:615139 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO OMIM:616462 ORPHA:1200 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR2E RNA polymerase II, I and III subunit E IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:1,086,574...1,095,375
Ensembl chr19:1,086,574...1,095,380 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO OMIM:264090 OMIM:607694 ORPHA:3455 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO OMIM:607694 OMIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:31089205 OMIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO OMIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G POU2F3 POU class 2 homeobox 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,236,638...120,319,945
Ensembl chr11:120,236,640...120,319,945 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO OMIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO OMIM:617450 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO OMIM:617506 ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO OMIM:616817 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO OMIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO OMIM:617711 OMIM:618265 ORPHA:442835 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 ORPHA:93945 ORPHA:93946 ORPHA:93947 ORPHA:93950 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRDM10 PR/SET domain 10 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PREPL prolyl endopeptidase like IAGP HPO OMIM:616224 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 OMIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:3157 ORPHA:95496 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO OMIM:262600 ORPHA:90695 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO OMIM:300661 ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 ORPHA:201 ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:600002 ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO OMIM:613382 ORPHA:93387 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Short stature		 ClinVar
HPO
RGD		 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 More... OMIM:151100 OMIM:163950 ORPHA:500 ORPHA:648, RGD:1581292 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:3437 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRU protein tyrosine phosphatase receptor type U IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:29,236,522...29,326,800
Ensembl chr 1:29,236,516...29,326,813 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO OMIM:616263 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO OMIM:615583 ORPHA:508488 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO OMIM:617931 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO OMIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO OMIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:2512 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G PYGB glycogen phosphorylase B IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:25,248,085...25,298,012
Ensembl chr20:25,248,085...25,298,012 		JBrowse link
G PYGL glycogen phosphorylase L IAGP HPO ORPHA:369 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483 		JBrowse link
G QRICH1 glutamine rich 1 IAGP HPO OMIM:617982 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO OMIM:300271 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:600118 OMIM:619420 ORPHA:1387 ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:212720 ORPHA:1387 ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RACGAP1 Rac GTPase activating protein 1 IAGP HPO ORPHA:98870 NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:614701 ORPHA:199 ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP HPO OMIM:613078 NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO OMIM:613390 ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO OMIM:611553 OMIM:611554 ORPHA:500 ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO OMIM:182290 ORPHA:1713 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO OMIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 IAGP HPO OMIM:620655 NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RASA3 RAS p21 protein activator 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr13:113,977,783...114,132,623
Ensembl chr13:113,977,783...114,132,623 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:1587 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:606744 ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO OMIM:612079 ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RDH11 retinol dehydrogenase 11 IAGP HPO OMIM:616108 ORPHA:436245 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793 		JBrowse link
G RECQL RecQ like helicase IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:35025765 OMIM:620370 NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 OMIM:266280 OMIM:268400 ORPHA:1225 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... ORPHA:388 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO OMIM:612015 ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO OMIM:616298 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO OMIM:613075 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP HPO OMIM:618641 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More... OMIM:615355 ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP HPO OMIM:300978 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:250460 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO OMIM:300953 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNF168 ring finger protein 168 IAGP HPO OMIM:611943 ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RNF214 ring finger protein 214 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,232,671...117,286,454
Ensembl chr11:117,232,625...117,286,454 		JBrowse link
G RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G RNF26 ring finger protein 26 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,334,527...119,337,309
Ensembl chr11:119,334,527...119,337,309 		JBrowse link
G RNF31 ring finger protein 31 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO OMIM:618160 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 More... OMIM:226960 OMIM:616651 ORPHA:1824 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25410734 PMID:25741868 OMIM:620303 ORPHA:95496 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROBO3 roundabout guidance receptor 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471 		JBrowse link
G ROBO4 roundabout guidance receptor 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500 		JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO ORPHA:1946 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33937263 OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO OMIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO OMIM:614900 ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO OMIM:612528 ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO OMIM:612527 ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO OMIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS23 ribosomal protein S23 IAGP HPO OMIM:617412 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO OMIM:613309 ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO OMIM:606164 ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO OMIM:303600 ORPHA:192 ORPHA:276630 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO OMIM:612563 ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,202,096...126,211,650
Ensembl chr11:126,202,096...126,211,692 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO OMIM:612649 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO OMIM:612650 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO OMIM:616723 ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96184 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RTTN rotatin IAGP HPO OMIM:614833 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:91,954,967...92,103,385
Ensembl chr 8:91,954,972...92,103,385 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 OMIM:156510 ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:19191333 PMID:25741868 PMID:28492532 PMID:32403337 PMID:33333461 More... OMIM:619542 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO OMIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein IAGP HPO ORPHA:2512 NCBI chr 1:100,083,570...100,132,930
Ensembl chr 1:100,083,563...100,132,955 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO OMIM:612313 ORPHA:251019 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... OMIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SC5D sterol-C5-desaturase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO ORPHA:442835 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:99735 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO ORPHA:442835 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33308444 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:615993 ORPHA:110 ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:252011 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO OMIM:607812 ORPHA:50814 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO OMIM:616294 ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO OMIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G SELENON selenoprotein N IAGP HPO OMIM:602771 ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SEMA3C semaphorin 3C IAGP HPO ORPHA:388 NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359 		JBrowse link
G SEMA3D semaphorin 3D IAGP HPO ORPHA:388 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SEMA5A semaphorin 5A IAGP HPO ORPHA:281 NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO OMIM:162100 ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO OMIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP HPO OMIM:619056 NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO OMIM:616831 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO OMIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:329249 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO OMIM:147250 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:988 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human)
Noonan syndrome-like disorder with loose anagen hair 1; DNA:mutation:cds:p.Ser2Gly(human)		 HPO
RGD		 PMID:20882035 PMID:23918763 OMIM:607721 ORPHA:2701, RGD:11071178, RGD:11071098 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:300582 ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SHPK sedoheptulokinase IAGP HPO ORPHA:440713 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G SHROOM4 shroom family member 4 IAGP HPO ORPHA:85288 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G SIAE sialic acid acetylesterase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,633,113...124,676,303
Ensembl chr11:124,633,113...124,695,707 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,178,743...117,197,442
Ensembl chr11:117,178,736...117,197,445 		JBrowse link
G SIK3 SIK family kinase 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO OMIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:369873 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 ORPHA:94065 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO OMIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:1946 ORPHA:442835 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO OMIM:249270 ORPHA:49827 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO ORPHA:442835 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 ORPHA:2095 ORPHA:2963 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC25A36 solute carrier family 25 member 36 IAGP HPO OMIM:620211 NCBI chr 3:140,941,836...140,980,995
Ensembl chr 3:140,941,830...140,980,995 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:226900 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP HPO ORPHA:95713 ORPHA:95720 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 ORPHA:168569 ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO OMIM:608885 ORPHA:168577 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 ORPHA:157215 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO ORPHA:157215 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO OMIM:266265 ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,063,305...125,090,516
Ensembl chr11:125,063,302...125,090,516 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:232220 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 ORPHA:442835 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP DNA:missense mutation:cds:p.G74D HPO
RGD		 PMID:18985159 OMIM:612350, RGD:11553861 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO OMIM:201100 ORPHA:37 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO OMIM:616721 ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO OMIM:611590 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO OMIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO OMIM:234500 ORPHA:2116 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO OMIM:300352 ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 IAGP HPO OMIM:616291 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO OMIM:613951 ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619656 OMIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD4 SMAD family member 4 IAGP DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M HPO
RGD		 PMID:22158539 OMIM:139210, RGD:12880042 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:601358 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO OMIM:614609 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:143,513,702...143,557,486
Ensembl chr 4:143,513,702...143,557,486 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO OMIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO OMIM:616938 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:300590 ORPHA:199 ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO OMIM:610759 ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO OMIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:619995 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:241800 ORPHA:388 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO OMIM:257200 OMIM:607616 ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SMS spermine synthase IAGP HPO OMIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP HPO OMIM:620515 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO OMIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:177910 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SNX19 sorting nexin 19 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,866,250...130,916,479
Ensembl chr11:130,866,250...130,916,479 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO OMIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SORL1 sortilin related receptor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... OMIM:610733 ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO OMIM:616559 ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:122860 ORPHA:1513 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO OMIM:615866 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO OMIM:206900 ORPHA:3157 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP DNA:duplication:cds:c.712_744dup
ClinVar Annotator: match by term: Stature below 3rd percentile		 HPO
ClinVar
RGD		 PMID:23757202 PMID:25741868 PMID:28492532 PMID:12428212 OMIM:300123 ORPHA:3157 ORPHA:67045 ORPHA:90695, RGD:11535974 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO OMIM:613849 ORPHA:1513 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPA17 sperm autoantigenic protein 17 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO OMIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPART spartin IAGP HPO OMIM:275900 ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO OMIM:145420 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO ORPHA:634 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO OMIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP HPO OMIM:620416 OMIM:620417 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO OMIM:136140 OMIM:619595 ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO OMIM:612713 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO ORPHA:388 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO OMIM:260400 OMIM:618752 ORPHA:811 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRPRA SRP receptor subunit alpha IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,235,930...126,268,895
Ensembl chr11:126,262,938...126,269,144 		JBrowse link
G SRPX sushi repeat containing protein X-linked IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:38,149,339...38,220,871
Ensembl chr  X:38,149,336...38,220,924 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,355,686...126,414,638
Ensembl chr11:126,355,640...126,440,344 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO OMIM:255995 ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO OMIM:301022 ORPHA:220386 ORPHA:521258 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STAMBP STAM binding protein IAGP HPO OMIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... OMIM:614162 ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO OMIM:618985 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO OMIM:620532 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:2512 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:185070 ORPHA:3204 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO OMIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO OMIM:612073 ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO OMIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:442835 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:442835 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SYTL5 synaptotagmin like 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:37,888,915...38,128,820
Ensembl chr  X:38,006,553...38,128,819 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO ORPHA:442835 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP HPO ORPHA:228410 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP HPO OMIM:619052 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP HPO OMIM:617432 ORPHA:2512 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO OMIM:617126 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
G TAGLN transgelin IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO OMIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO OMIM:615663 ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBC1D23 TBC1 domain family member 23 IAGP HPO OMIM:617695 NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCEL tubulin folding cofactor E like IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:121,024,102...121,090,776
Ensembl chr11:121,024,072...121,090,776 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO OMIM:602342 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,622,864...124,635,926
Ensembl chr11:124,622,836...124,635,926 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 OMIM:192430 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO OMIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TBX22 T-box transcription factor 22 IAGP HPO OMIM:302905 ORPHA:921 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 ORPHA:238578 ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO OMIM:258860 ORPHA:2754 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP HPO OMIM:615031 ORPHA:320385 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO OMIM:613989 ORPHA:1775 ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:313 ORPHA:79394 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G THG1L tRNA-histidine guanylyltransferase 1 like IAGP HPO OMIM:618800 NCBI chr 5:157,731,420...157,741,449
Ensembl chr 5:157,731,420...157,741,449 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO OMIM:300957 ORPHA:457240 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:3319 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G THUMPD1 THUMP domain containing 1 IAGP HPO OMIM:619989 NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084 		JBrowse link
G THY1 Thy-1 cell surface antigen IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO OMIM:613990 ORPHA:1775 ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TIRAP TIR domain containing adaptor protein IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845 		JBrowse link
G TLCD5 TLC domain containing 5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,325,299...120,333,686
Ensembl chr11:120,325,296...120,333,686 		JBrowse link
G TLK2 tousled like kinase 2 IAGP HPO OMIM:618050 NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 ORPHA:1394 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO OMIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM225 transmembrane protein 225 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,882,920...123,885,670
Ensembl chr11:123,882,920...123,885,670 		JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,531,192...118,547,286
Ensembl chr11:118,531,041...118,547,280 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO OMIM:615066 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629 		JBrowse link
G TMEM45B transmembrane protein 45B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:129,815,848...129,860,003
Ensembl chr11:129,815,848...129,860,003 		JBrowse link
G TMEM53 transmembrane protein 53 IAGP HPO OMIM:619727 NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:117,900,641...117,929,402
Ensembl chr11:117,900,641...117,929,459 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,077,078...118,125,505
Ensembl chr11:118,077,012...118,125,510 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO OMIM:239000 ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO OMIM:601680 ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO OMIM:619185 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TOMM7 translocase of outer mitochondrial membrane 7 IAGP HPO OMIM:620601 NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO OMIM:618097 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... OMIM:618165 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:128,934,731...128,942,871
Ensembl chr11:128,934,731...128,943,399 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO OMIM:617730 ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TP63 tumor protein p63 IAGP HPO OMIM:129400 ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:108120 ORPHA:1147 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO OMIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO OMIM:616777 ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO ORPHA:442835 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP HPO OMIM:620027 ORPHA:2512 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:28492532 OMIM:615356 ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO ORPHA:2512 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP HPO OMIM:617862 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:225750 ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRH thyrotropin releasing hormone IAGP HPO OMIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO OMIM:618573 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G TRIM29 tripartite motif containing 29 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:120,111,286...120,138,113
Ensembl chr11:120,111,286...120,185,529 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO OMIM:253250 ORPHA:2576 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 ORPHA:166272 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO OMIM:617598 ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO OMIM:616033 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 OMIM:190350 OMIM:190351 ORPHA:502 ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184095 OMIM:606071 OMIM:617383 ORPHA:93304 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:417 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO OMIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:95713 ORPHA:95720 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G TSTD3 thiosulfate sulfurtransferase like domain containing 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:99,424,906...99,586,256
Ensembl chr 6:99,520,976...99,589,899 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO OMIM:613819 ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TTI1 TELO2 interacting protein 1 IAGP HPO OMIM:620445 NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO OMIM:615541 ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Stature below 3rd percentile ClinVar
HPO		 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 ORPHA:324604 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Stature below 3rd percentile ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TUBB tubulin beta class I IAGP HPO ORPHA:2505 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:1766 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO OMIM:612438 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO ORPHA:2518 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO OMIM:251270 ORPHA:2518 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO OMIM:608572 ORPHA:1200 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO OMIM:620040 ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO OMIM:617132 ORPHA:442835 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO OMIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBASH3B ubiquitin associated and SH3 domain containing B IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:122,655,722...122,814,473
Ensembl chr11:122,655,722...122,814,473 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO OMIM:616435 ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:238446 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO OMIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:619639 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO OMIM:243800 ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 1:19,074,510...19,210,266
Ensembl chr 1:19,074,510...19,210,266 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP HPO OMIM:619189 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO OMIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559 		JBrowse link
G UROC1 urocanate hydratase 1 IAGP HPO OMIM:276880 NCBI chr 3:126,481,166...126,517,773
Ensembl chr 3:126,481,166...126,517,773 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO OMIM:604173 ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		JBrowse link
G USP2 ubiquitin specific peptidase 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,355,215...119,381,690
Ensembl chr11:119,355,215...119,381,711 		JBrowse link
G USP24 ubiquitin specific peptidase 24 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:55,066,359...55,215,364
Ensembl chr 1:55,066,359...55,215,378 		JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728 		JBrowse link
G USP51 ubiquitin specific peptidase 51 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:55,484,616...55,489,848
Ensembl chr  X:55,484,616...55,489,848 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:52430 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VLDLR very low density lipoprotein receptor IAGP HPO OMIM:224050 ORPHA:1766 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 More... OMIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:620010 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO OMIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,747,474...124,752,255
Ensembl chr11:124,747,474...124,752,255 		JBrowse link
G VWA5A von Willebrand factor A domain containing 5A IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:124,115,450...124,147,721
Ensembl chr11:124,115,404...124,147,721 		JBrowse link
G VWCE von Willebrand factor C and EGF domains IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr11:61,258,286...61,295,316
Ensembl chr11:61,258,286...61,295,316 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WASHC4 WASH complex subunit 4 IAGP HPO OMIM:615817 NCBI chr12:105,107,731...105,169,130
Ensembl chr12:105,107,324...105,169,130 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO OMIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:95496 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 OMIM:614378 ORPHA:3156 ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 OMIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO OMIM:618346 OMIM:618347 ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO ORPHA:2512 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO OMIM:610185 ORPHA:1766 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 IAGP HPO OMIM:618453 NCBI chr 7:5,190,233...5,233,855
Ensembl chr 7:5,190,196...5,233,840 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP HPO OMIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO OMIM:615220 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 ORPHA:2578 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WNT5A Wnt family member 5A IAGP ClinVar Annotator: match by term: Short stature HPO
ClinVar		 PMID:25741868 OMIM:180700 ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:20443122 PMID:25741868 PMID:28492532 OMIM:277700 ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:893 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:442835 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO OMIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:370930 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO OMIM:605822 ORPHA:85194 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO OMIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP HPO ORPHA:442835 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
G ZBED4 zinc finger BED-type containing 4 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr22:49,852,850...49,890,080
Ensembl chr22:49,853,844...49,890,080 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO OMIM:612337 ORPHA:36367 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:130,226,677...130,314,917
Ensembl chr11:130,226,677...130,314,917 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 OMIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFC3H1 zinc finger C3H1-type containing IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:71,609,599...71,663,848
Ensembl chr12:71,609,599...71,667,725 		JBrowse link
G ZFHX3 zinc finger homeobox 3 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
G ZFHX3-AS1 ZFHX3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:72,665,133...72,821,654
Ensembl chr16:72,665,123...72,828,293
Ensembl chr16:72,665,123...72,828,293 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 IAGP HPO OMIM:619522 NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP HPO OMIM:301111 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO OMIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZNF202 zinc finger protein 202 IAGP ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr11:123,723,914...123,741,660
Ensembl chr11:123,723,914...123,741,675 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP HPO OMIM:619557 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		JBrowse link
G ZNF446 zinc finger protein 446 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:58,476,352...58,489,533
Ensembl chr19:58,474,017...58,481,230 		JBrowse link
G ZNF449 zinc finger protein 449 IAGP ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:135,344,796...135,363,413
Ensembl chr  X:135,344,796...135,363,413 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP ClinVar Annotator: match by term: Short stature ClinVar
HPO		 PMID:32581362 OMIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Birth length less than 3rd percentile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO OMIM:614104 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO OMIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO OMIM:618908 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO OMIM:613800 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO OMIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO OMIM:618907 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO OMIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO OMIM:244460 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
Childhood onset short-limb short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Childhood-onset short-trunk short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:113500 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Childhood-onset short-trunk short stature ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
Disproportionate short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO OMIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:1856 ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO OMIM:617425 ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:616482 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO OMIM:250220 ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Short stature, severe disproportionate 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 LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:250400 ORPHA:2501 ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G(human) RGD PMID:21211617 RGD:11069733 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar
HPO		 PMID:35741827 ORPHA:40 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PCNT pericentrin IAGP HPO OMIM:210720 ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93298 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Disproportionate short-limb short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP HPO OMIM:600121 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:609441 ORPHA:2098 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:166210 OMIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:166210 OMIM:259420 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 ClinVar Annotator: match by term: Short limb dwarfism ClinVar
HPO		 PMID:25741868 OMIM:184250 OMIM:200610 ORPHA:85166 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 OMIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO OMIM:602557 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:225500 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Disproportionate short-limb short stature HPO
ClinVar		 PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... OMIM:146000 OMIM:187600 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:200700 ORPHA:2098 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Disproportionate short-limb short stature 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 GPC6 glypican 6 IAGP HPO OMIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:224410 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO OMIM:258480 ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO OMIM:619131 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO OMIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:608728 ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO OMIM:618644 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828 		JBrowse link
G MIR140 microRNA 140 IAGP HPO OMIM:618618 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO OMIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO OMIM:259440 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 ORPHA:240 ORPHA:2632 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO OMIM:269250 ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO OMIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Disproportionate short-trunk short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSK arylsulfatase family member K IAGP HPO OMIM:619698 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102 		JBrowse link
G BGN biglycan IAGP HPO OMIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO OMIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:156550 OMIM:200610 ORPHA:485 ORPHA:93315 ORPHA:93316 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO OMIM:277300 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 OMIM:607326 ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO OMIM:277300 OMIM:608681 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO OMIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO OMIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Disproportionate short-trunk short stature ClinVar
HPO		 PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... OMIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO OMIM:122600 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO OMIM:313400 ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 OMIM:184252 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO ORPHA:85194 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Infancy onset short-trunk short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Lethal short-limbed short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Lethal short-limbed short stature HPO
ClinVar		 PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... OMIM:187600 OMIM:187601 ORPHA:1860 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Mesomelic short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOX SHOX homeobox IAGP HPO OMIM:249700 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Mesomelic/rhizomelic limb shortening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Mesomelic/rhizomelic limb shortening 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 SHOX SHOX homeobox IAGP HPO ORPHA:2632 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
Mild short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGO1 argonaute RISC component 1 IAGP HPO OMIM:620292 NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:missense mutation;exon:2350C>T(p.H784Y)(human) RGD PMID:18478038 RGD:13439711 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G CAMK2G calcium/calmodulin dependent protein kinase II gamma IAGP HPO OMIM:618522 NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO OMIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DOCK3 dedicator of cytokinesis 3 IAGP HPO OMIM:618292 NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:193530 ORPHA:952 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:193530 ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:169400 OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO OMIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO OMIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G RTTN rotatin IAGP HPO OMIM:614833 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:601358 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Mild short stature ClinVar PMID:25741868 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP HPO OMIM:301111 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
Moderately short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP HPO OMIM:113300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SELENOI selenoprotein I IAGP HPO ORPHA:506353 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO OMIM:612350 ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
Neonatal short-limb short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Short-limbed dwarfism identifiable at birth ClinVar
HPO		 PMID:8364588 PMID:25741868 OMIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:151210 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:225500 ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:100800 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:250250 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 OMIM:600972 ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
Neonatal short-trunk short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Pituitary dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G GH1 growth hormone 1 IAGP HPO OMIM:173100 OMIM:262650 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO OMIM:221750 ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO OMIM:262700 ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO OMIM:312000 ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
Proportionate short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:608361 ORPHA:93283 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO OMIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:404443 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO OMIM:620331 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP DNA:mutations:cds:g.1807335G>T(p.M528I),g.1806131T>C (p.F384L)(human) RGD PMID:25777271 RGD:11568051 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO OMIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:616255 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Proportionate short stature ClinVar PMID:24451042 PMID:25741868 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:171876 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:171876 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP DNA:deletions:multiple: (human) RGD PMID:28464518 RGD:155663379 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO OMIM:244460 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TKT transketolase IAGP HPO OMIM:617044 ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Proportionate short stature ClinVar PMID:11112658 PMID:18946009 PMID:24502542 PMID:25741868 PMID:25792522 More... NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO OMIM:612337 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
Rhizomelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:612813 ORPHA:171866 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G AGPS alkylglycerone phosphate synthase IAGP HPO OMIM:600121 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO OMIM:607143 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ARCN1 archain 1 IAGP HPO OMIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO OMIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 OMIM:245600 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO OMIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:228520 ORPHA:440354 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Rhizomelic shortening ClinVar PMID:8364588 PMID:25741868 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:151210 OMIM:156550 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO OMIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO OMIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO OMIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:166250 ORPHA:2645 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:100800 OMIM:616482 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 OMIM:108721 ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:228900 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GPC6 glypican 6 IAGP HPO OMIM:258315 ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO OMIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GSC goosecoid homeobox IAGP HPO OMIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO OMIM:218330 ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:614099 ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO OMIM:611263 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO OMIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KYNU kynureninase IAGP HPO OMIM:617661 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 OMIM:618019 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MAB21L2 mab-21 like 2 IAGP HPO OMIM:615877 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:301014 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:602111 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO OMIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO OMIM:618116 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO OMIM:608940 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO OMIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO OMIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619636 OMIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO OMIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO OMIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Rhizomelic arm shortening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Rhizomelic arm shortening 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 MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:249700 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Rhizomelic leg shortening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Rhizomelic leg shortening 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
Severe short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2176 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO OMIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPJ centromere protein J IAGP HPO OMIM:613676 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CENPT centromere protein T IAGP HPO OMIM:618702 NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:184250 ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO OMIM:615789 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTSA cathepsin A IAGP HPO OMIM:256540 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO OMIM:277300 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO OMIM:220600 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:618724 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO OMIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 OMIM:278800 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:2319 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:127000 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:102370 ORPHA:969 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:166250 ORPHA:2645 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:112310 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GH1 growth hormone 1 IAGP HPO OMIM:173100 OMIM:262400 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP HPO OMIM:262500 ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO OMIM:618157 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230500 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO OMIM:616835 ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO OMIM:231070 ORPHA:2078 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO OMIM:600092 ORPHA:1422 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO OMIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:224410 ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO OMIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO ORPHA:559 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP HPO OMIM:615071 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO OMIM:619345 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:3238 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:301014 ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO OMIM:277300 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO OMIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G NIN ninein IAGP HPO OMIM:614851 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO OMIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO OMIM:612921 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO OMIM:275400 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO OMIM:618336 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 IAGP HPO OMIM:619057 NCBI chr 2:86,106,235...86,142,157
Ensembl chr 2:86,106,223...86,142,157 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO ORPHA:2078 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPL13 ribosomal protein L13 IAGP HPO OMIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:2307 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO OMIM:126550 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:2632 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93298 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO OMIM:245590 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO OMIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO OMIM:122600 ORPHA:1797 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:93299 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:156530 OMIM:168400 ORPHA:2635 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Severe short-limb dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:1263 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:201250 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO ORPHA:436182 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:436182 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP ClinVar Annotator: match by term: Severe short-limb dwarfism ClinVar PMID:26633546 PMID:34313816 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Growth abnormality 3532
        Growth delay 2147
          Short stature 1663
            Asymmetric short stature 0
            Birth length less than 3rd percentile 15
            Disproportionate short stature + 157
            Pituitary dwarfism 10
            Proportionate short stature + 150
paths to the root