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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of body height
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Accession:HP:0000002 term browser browse the term
Definition:Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Synonyms:xref: UMLS:C4025901


show annotations for term's descendants           Sort by:
Abnormality of body height term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO OMIM:617800 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 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 ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO OMIM:144750 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NOG noggin IAGP HPO OMIM:186570 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP DNA:snp:enhancer:C>G (rs17038182)
DNA:snp:enhancer:A>G (rs9428104)		 RGD PMID:19893584 PMID:21998595 RGD:11535959, RGD:11535962 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
Birth length greater than 97th percentile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO OMIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO OMIM:618786 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		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
Disproportionate tall stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO OMIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO OMIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO OMIM:236200 ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:frameshift mutations, missense mutations:CDS:multiple HPO
RGD		 PMID:26373698 ORPHA:2953, RGD:11061906 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 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 ClinVar Annotator: match by term: Marfanoid habitus ClinVar NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Reduced upper-lower segment ratio
ClinVar Annotator: match by term: Marfanoid habitus		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP HPO OMIM:618793 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Reduced upper-lower segment ratio
ClinVar Annotator: match by term: Marfanoid habitus		 ClinVar
HPO		 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... OMIM:154700 OMIM:604308 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO ORPHA:300179 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO OMIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO OMIM:259100 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LOX lysyl oxidase IAGP HPO OMIM:617168 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:309520 ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO OMIM:616166 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Dolichostenomelia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NKAP NFKB activating protein IAGP DNA:missense mutations:exon 8-9:multiple (human) HPO
RGD		 PMID:31587868 OMIM:301039, RGD:155641252 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Reduced upper-lower segment ratio ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 More... 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 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Dolichostenomelia ClinVar PMID:10564585 PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:162300 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Disproportionate tall stature
ClinVar Annotator: match by term: Dolichostenomelia
ClinVar Annotator: match by term: Marfanoid habitus		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Marfanoid habitus ClinVar NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Dolichostenomelia ClinVar
HPO		 PMID:16799921 PMID:19542084 PMID:26848186 PMID:26877057 PMID:28492532 More... OMIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO OMIM:619825 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO OMIM:300799 ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO OMIM:229200 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Increased upper to lower segment ratio term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		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
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
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
Overgrowth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP HPO OMIM:300607 NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO OMIM:617798 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO OMIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Overgrowth ClinVar PMID:25741868 PMID:32267004 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO OMIM:618272 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254534 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:615879 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EED embryonic ectoderm development IAGP HPO OMIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO OMIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		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 ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO OMIM:204690 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO OMIM:219100 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: General overgrowth ClinVar
HPO		 PMID:26660953 OMIM:617107 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO OMIM:300942 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G H3-3B H3.3 histone B IAGP HPO OMIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO OMIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:163200 OMIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		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 IGF2 insulin like growth factor 2 IAGP HPO OMIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO OMIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO OMIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		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 KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Overgrowth ClinVar PMID:25741868 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254534 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:614753 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Overgrowth ClinVar
HPO		 PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... OMIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:616592 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Overgrowth ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:602501 OMIM:612918 ORPHA:168984 ORPHA:276280 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO OMIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Overgrowth ClinVar PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO OMIM:605309 ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254534 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO OMIM:616831 OMIM:620155 OMIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO OMIM:618786 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		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
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...17,054,032 		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
Proportionate tall stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		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 FIBP FGF1 intracellular binding protein IAGP HPO ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
Reduced upper to lower segment ratio term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP HPO OMIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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...17,054,032 		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
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 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...104,795,751 		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 7:100,100,898...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 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 chr11:108,222,823...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 chr10:86,756,596...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...13,633,025 		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 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 chr17:59,619,684...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 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 chr22:41,092,592...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:620662 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 PMID:32581362 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 chr11:13,668,668...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...160,200,313 		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...160,070,160 		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 OMIM:604321 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: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 1:156,082,573...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
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...23,177,808 		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 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 chr17:10,383,144...10,623,886 		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 1:247,416,156...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: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 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...32,526,208 		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...17,054,032 		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 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: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 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 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 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...118,121,890 		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 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...7,687,538 		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 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 2:209,771,832...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 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
Slender build term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:161800 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:missense mutations, deletion:CDS:multiple RGD PMID:20004762 RGD:155663488 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CIC capicua transcriptional repressor IAGP HPO OMIM:617600 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO OMIM:615156 ORPHA:352470 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		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 FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		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 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 ORPHA:171439 ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 HPO
RGD		 PMID:26571461 OMIM:300967 ORPHA:466791, RGD:11058183 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:300831 ORPHA:251383 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:603041 OMIM:613662 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP HPO OMIM:617709 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP HPO OMIM:611087 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171439 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO OMIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO OMIM:603041 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO OMIM:300676 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Tall stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP HPO OMIM:613163 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO OMIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 IAGP DNA:SNP: :rs2796749(human) RGD PMID:22496743 RGD:14390074 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G C1R complement C1r IAGP HPO OMIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO OMIM:236200 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:29073 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO OMIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		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 CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:2849 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:615879 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EED embryonic ectoderm development IAGP HPO OMIM:617561 ORPHA:3447 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Increased linear growth ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Tall stature ClinVar
HPO		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... OMIM:154700 OMIM:616914 ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:90024 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:610474 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO OMIM:617107 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:36 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO OMIM:300942 ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO OMIM:617011 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:36 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor IAGP HPO ORPHA:3000 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3152 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO OMIM:202200 ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MC4R melanocortin 4 receptor IAGP HPO OMIM:618406 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 ORPHA:420179 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:615923 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO OMIM:619543 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP DNA:missense mutation:cds:6605G>A(p.C2202Y)(human)
ClinVar Annotator: match by term: Tall stature		 HPO
ClinVar
RGD		 PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... OMIM:117550 ORPHA:3447 ORPHA:821, RGD:11568154 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP ClinVar Annotator: match by term: Increased linear growth ClinVar PMID:25741868 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:217385 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:616592 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:168984 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO OMIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO OMIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:60030 ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMS spermine synthase IAGP HPO OMIM:309583 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SOST sclerostin IAGP HPO ORPHA:3152 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 IAGP HPO OMIM:620439 NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538 		JBrowse link
G SRY sex determining region Y IAGP HPO OMIM:400044 OMIM:400045 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO OMIM:617757 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO OMIM:618786 ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TCF20 transcription factor 20 IAGP HPO OMIM:618430 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO OMIM:614816 ORPHA:60030 ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 ORPHA:60030 ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:1878 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Tall stature ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO OMIM:300676 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP HPO ORPHA:217385 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Growth abnormality 3509
        Abnormality of body height 1774
          Abnormal upper to lower segment ratio + 3
          Short stature + 1650
          Tall stature + 181
paths to the root