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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 globe location
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Accession:HP:0100886 term browser browse the term
Definition:An abnormality in the placement of the ocular globe (eyeball).
Synonyms:exact_synonym: Abnormality of eyeball location;   Abnormality of eyeball position;   Abnormality of globe position
 xref: UMLS:C4021946


show annotations for term's descendants           Sort by:
Abnormality of globe location term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		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
Cyclopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDON cell adhesion associated, oncogene regulated IAGP ClinVar Annotator: match by term: Single central eye ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		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 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 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 FGF8 fibroblast growth factor 8 IAGP ClinVar Annotator: match by term: Single central eye
ClinVar Annotator: match by term: Cyclopia		 ClinVar
HPO		 PMID:18596921 PMID:21045958 PMID:28492532 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		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 GAS1 growth arrest specific 1 IAGP ClinVar Annotator: match by term: Single central eye ClinVar
HPO		 PMID:20583177 PMID:21842183 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 GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Single central eye
ClinVar Annotator: match by term: Cyclopia		 ClinVar
HPO		 PMID:25741868 PMID:28492532 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 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 OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:990 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO MIM:619895 ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO ORPHA:990 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		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 SHH sonic hedgehog signaling molecule IAGP HPO MIM:142945 MIM:147250 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO MIM:157170 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 SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO MIM:301043 ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 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 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 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 ZIC2 Zic family member 2 IAGP ClinVar Annotator: match by term: Single central eye ClinVar
HPO		 PMID:22859937 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
Deeply set eye term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO MIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACTB actin beta IAGP HPO MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase IAGP HPO MIM:232400 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AGO2 argonaute RISC catalytic component 2 IAGP HPO MIM:619149 NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase IAGP HPO MIM:618504 NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP HPO MIM:619504 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO MIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:617183 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:619762 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO MIM:615984 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		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 BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO MIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G 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 CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO MIM:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO MIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO ORPHA:314647 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 IAGP HPO MIM:620782 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		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 CDH2 cadherin 2 IAGP HPO MIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO MIM:300672 ORPHA:505652 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CENPF centromere protein F IAGP HPO MIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO MIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit IAGP ClinVar Annotator: match by term: Sunken eye ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G COA3 cytochrome c oxidase assembly factor 3 IAGP HPO MIM:619058 NCBI chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 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 MIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO MIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO MIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO MIM:613835 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 MIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		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 CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSNK2B casein kinase 2 beta IAGP ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:617915 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G DCPS decapping enzyme, scavenger IAGP HPO MIM:616459 NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005 		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 DHPS deoxyhypusine synthase IAGP HPO MIM:618480 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		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 DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO MIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:293948 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO MIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Enophthalmos
ClinVar Annotator: match by term: Sunken eye		 HPO
ClinVar
RGD		 PMID:18414213 PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 More... MIM:614104 ORPHA:268261 ORPHA:464311, RGD:11076606 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 MIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO MIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO MIM:616393 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO MIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPB41L1 erythrocyte membrane protein band 4.1 like 1 IAGP HPO MIM:614257 NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 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 MIM:610756 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:278760 MIM:610965 ORPHA:90321 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 MIM:133540 MIM:214150 ORPHA:90321 ORPHA:90324 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 MIM:216400 ORPHA:90321 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO MIM: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 MIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 MIM:616914 ORPHA:284979 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 MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO31 F-box protein 31 IAGP HPO MIM:615979 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		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 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 FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		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 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 GATAD2B GATA zinc finger domain containing 2B IAGP HPO MIM:615074 ORPHA:363686 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:257850 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLYCTK glycerate kinase IAGP HPO MIM:220120 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO MIM:300699 ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:614254 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:600430 ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO MIM:300882 ORPHA:3459 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO ORPHA:1422 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		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 HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP HPO MIM:620688 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 IAGP HPO MIM:301025 NCBI chr  X:132,626,015...132,961,370
Ensembl chr  X:132,626,015...132,961,395 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 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 MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		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 JAG1 jagged canonical Notch ligand 1 IAGP HPO MIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO MIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO MIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		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 KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO MIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:617296 ORPHA:521390 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP HPO MIM:618512 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP HPO MIM:615071 ORPHA:319671 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		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 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 LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO 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 MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MED12L mediator complex subunit 12L IAGP HPO MIM:618872 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO MIM:613443 ORPHA:228384 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO MIM:600987 ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP HPO MIM:617228 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		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 MSL3 MSL complex subunit 3 IAGP HPO MIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO ORPHA:647799 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO MIM:305390 ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 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 ORPHA:420179 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NGF nerve growth factor IAGP HPO ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NOVA2 NOVA alternative splicing regulator 2 IAGP HPO MIM:618859 NCBI chr19:45,933,734...45,973,865
Ensembl chr19:45,933,734...45,974,044 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO MIM:619075 ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO MIM:300486 ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		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 OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 IAGP HPO MIM:618158 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP HPO MIM:300558 NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361 		JBrowse link
G PDCD6IP programmed cell death 6 interacting protein IAGP HPO MIM:620047 NCBI chr 3:33,798,630...33,869,703
Ensembl chr 3:33,798,571...33,869,707 		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 PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PHF6 PHD finger protein 6 IAGP HPO MIM:301900 ORPHA:127 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO MIM:617991 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:108145 ORPHA:1154 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO MIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:269880 ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLEC plectin IAGP HPO MIM:612138 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280229 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 ORPHA:3455 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO ORPHA:314647 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO MIM:616355 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		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 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 PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO MIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G 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
G PUS7 pseudouridine synthase 7 IAGP HPO MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:612940 MIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:600118 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 MIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO MIM:182290 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP HPO MIM:618797 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611523 NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028 		JBrowse link
G RECQL RecQ like helicase IAGP HPO MIM:620370 NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RNF2 ring finger protein 2 IAGP HPO MIM:619460 NCBI chr 1:185,045,558...185,102,603
Ensembl chr 1:185,045,497...185,102,603 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 ORPHA:576283 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: Enophthalmos ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO MIM:162100 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:616078 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP HPO MIM:619056 NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		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 SLC32A1 solute carrier family 32 member 1 IAGP HPO MIM:620774 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP HPO MIM:301024 NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO MIM:105830 ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO MIM:619312 ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPIN4 spindlin family member 4 IAGP HPO MIM:301114 NCBI chr  X:63,347,228...63,351,332
Ensembl chr  X:63,347,228...63,351,332 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO MIM:618828 MIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP HPO MIM:616937 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:136140 ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 IAGP HPO MIM:620439 NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO MIM:300934 ORPHA:370927 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO MIM:617635 ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:185070 ORPHA:3204 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SUOX sulfite oxidase IAGP HPO MIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:544254 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO MIM:615663 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:241410 ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO MIM:602342 ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TCF20 transcription factor 20 IAGP HPO MIM:618430 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO MIM:610954 ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:614816 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO MIM:613680 ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO MIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:602152 ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMEM94 transmembrane protein 94 IAGP HPO MIM:618316 NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO MIM:619185 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP HPO MIM:620393 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO MIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO MIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO MIM:617598 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO MIM:615541 ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO MIM:300860 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO MIM:105830 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		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 UGDH UDP-glucose 6-dehydrogenase IAGP HPO MIM:618792 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP HPO MIM:616708 ORPHA:284169 ORPHA:466950 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G WASF1 WASP family member 1 IAGP HPO MIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 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 MIM: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 ZNF668 zinc finger protein 668 IAGP HPO MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO MIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
Hypertelorism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO MIM:264470 ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTB actin beta IAGP HPO MIM:243310 ORPHA:2995 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 MIM:614583 ORPHA:2995 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 MIM:618470 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ACY1 aminoacylase 1 IAGP HPO MIM:609924 ORPHA:137754 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		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 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO MIM:618154 ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ADK adenosine kinase IAGP HPO MIM:614300 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO MIM:616368 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO ORPHA:83473 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:219150 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO MIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:300884 ORPHA:324422 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:263210 MIM:608776 ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO MIM:613456 ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO MIM:609597 MIM:613451 ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMOTL1 angiomotin like 1 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:28492532 PMID:33026150 PMID:36751037 NCBI chr11:94,706,460...94,876,748
Ensembl chr11:94,706,431...94,876,748 		JBrowse link
G ANAPC7 anaphase promoting complex subunit 7 IAGP HPO MIM:619699 NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730 		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 MIM:123000 ORPHA:1522 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP DNA:deletions, SNPs:CDS:multiple HPO
RGD		 PMID:21782149 MIM:148050 ORPHA:2332, RGD:11068938 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO MIM:230740 ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 IAGP HPO MIM:619548 NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO MIM:614067 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARL6 ARF 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 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 ASCC3 activating signal cointegrator 1 complex subunit 3 IAGP HPO MIM:620700 NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO MIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM: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 MIM:617403 ORPHA:357074 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 ORPHA:3473 ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP DNA:point muation:exon:3868G>A (p.R1272Q) (human) HPO
RGD		 PMID:26997013 MIM:301040 MIM:309580 ORPHA:847, RGD:13442490 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 MIM:615834 ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G AVP arginine vasopressin IAGP HPO MIM:125700 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G AXIN1 axin 1 IAGP HPO MIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO MIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO MIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G 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 chr15:72,686,186...72,742,006 		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 MIM:615984 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 MIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP HPO MIM:301029 NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BGN biglycan IAGP HPO MIM: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 MIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 IAGP HPO ORPHA:93110 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO MIM:617755 ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 MIM:163950 MIM:613706 MIM: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 MIM: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 ORPHA:84 NCBI chr13:32,315,077...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 HPO MIM:620568 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO MIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO MIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO MIM:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO MIM:614756 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 IAGP HPO MIM:620782 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 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 MIM:300422 MIM:300749 ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO MIM:613563 ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO MIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CCND2 cyclin D2 IAGP HPO ORPHA:83473 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CCNK cyclin K IAGP HPO MIM:618147 NCBI chr14:99,481,409...99,512,440
Ensembl chr14:99,481,169...99,535,044 		JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO MIM:616910 ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997 		JBrowse link
G CDH1 cadherin 1 IAGP HPO MIM:119580 ORPHA:1997 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 MIM:619736 ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDH2 cadherin 2 IAGP HPO MIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM: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 DNA:Mutations:cds : HPO
RGD		 PMID:28807008 MIM:617360, RGD:155631312 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 MIM:618916 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CEMIP2 cell migration inducing hyaluronidase 2 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 9:71,683,366...71,769,466
Ensembl chr 9:71,683,366...71,816,690 		JBrowse link
G CENPF centromere protein F IAGP HPO MIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO MIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		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:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		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 CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO MIM: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 MIM:214800 ORPHA:138 ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 ORPHA:261229 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP HPO MIM:612001 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO MIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:253290 MIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:missense mutations, deletion:CDS:multiple
DNA:frameshift mutations, missense mutations:CDS:multiple		 HPO
RGD		 PMID:20004762 PMID:26373698 MIM:601776 ORPHA:2953, RGD:155663488, RGD:11061906 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 MIM:245600 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO MIM:605282 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 MIM:617090 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP HPO MIM:619173 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:618541 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG3 component of oligomeric golgi complex 3 IAGP HPO MIM:620546 NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar
HPO		 PMID:25741868 MIM: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 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 ClinVar Annotator: match by term: Increased distance between eyes ClinVar
HPO		 PMID:8364588 PMID:25741868 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 COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO MIM: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 HPO ORPHA:93346 ORPHA:94068 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 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 ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO MIM:248340 ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO MIM:265050 ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		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 COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO MIM:608393 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM: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 MIM:194190 MIM:617976 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 ORPHA:353277 ORPHA:592574 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP HPO MIM:617062 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO MIM:615636 ORPHA:397715 ORPHA:564 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 MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTNND1 catenin delta 1 IAGP HPO MIM:617681 ORPHA:1997 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546 		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 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr11:10,751,246...10,779,746
Ensembl chr11:10,751,018...10,801,625 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO MIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G DBR1 debranching RNA lariats 1 IAGP HPO MIM:620510 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO MIM:601390 ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO MIM:300958 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO MIM:618653 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 DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO MIM:620504 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:618731 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO MIM:618272 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO MIM:616788 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO MIM:615879 ORPHA:404443 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO MIM:242860 ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO MIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO MIM: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 MIM: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 HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO MIM:619435 ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO MIM:615539 ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		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 DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 MIM: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 HPO MIM:616894 ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO MIM: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 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 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO MIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EED embryonic ectoderm development IAGP HPO MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO MIM:610253 ORPHA:96147 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO MIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar
HPO		 PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More... NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPB41L1 erythrocyte membrane protein band 4.1 like 1 IAGP HPO MIM:614257 NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 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 ORPHA:33364 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 ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO MIM:600775 MIM:617180 ORPHA:207 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:216100 MIM:268300 ORPHA:2319 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:616682 ORPHA:466926 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		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 MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM: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 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 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 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 MIM:614083 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 MIM:616154 ORPHA:438178 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:615546 MIM:616006 ORPHA:2136 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 HPO MIM:614185 ORPHA:2462 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 MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO31 F-box protein 31 IAGP HPO MIM:615979 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		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 FGF20 fibroblast growth factor 20 IAGP HPO ORPHA:1848 NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345 		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 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 MIM:101600 MIM:166250 MIM:615465 ORPHA:2117 ORPHA:2645 ORPHA:432 ORPHA:93258 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar
HPO		 PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... MIM:101200 MIM:101400 MIM:101600 MIM:123500 MIM:123790 MIM:149730 MIM:614592 ORPHA:1540 ORPHA:1555 ORPHA:168624 ORPHA:207 ORPHA:313855 ORPHA:794 ORPHA:87 ORPHA:93258 ORPHA:93259 ORPHA:93260 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:602849 MIM:612247 ORPHA:35099 ORPHA:53271 ORPHA:794 ORPHA:93262 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 MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FH fumarate hydratase IAGP HPO MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLCN folliculin IAGP HPO MIM: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 HPO 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 DNA:deletion:cds:c.4904_4912del (human)
DNA:missense mutations, deletions:cds:multiple (human)		 HPO
RGD		 PMID:15654694 PMID:16835913 MIM:300048 MIM:300244 MIM:304120 MIM:305620 MIM:309350 MIM:311300 MIM:314400 ORPHA:1826 ORPHA:2484 ORPHA:555877 ORPHA:88630 ORPHA:90650 ORPHA:90652, RGD:11565126, RGD:11063279 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 HPO MIM:108720 MIM:150250 MIM:272460 ORPHA:1190 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO MIM:602482 ORPHA:782 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO MIM:241850 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		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 FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO MIM:613670 ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP HPO MIM:248450 MIM:614485 ORPHA:2717 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO MIM:164745 ORPHA:3107 ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO MIM:618885 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122 		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 GATA6 GATA binding protein 6 IAGP HPO MIM:217095 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B IAGP HPO MIM:615074 ORPHA:363686 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 IAGP HPO ORPHA:1848 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 ORPHA:1522 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GK glycerol kinase IAGP HPO MIM:307030 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230500 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 GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:174200 MIM:175700 ORPHA:36 ORPHA:380 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO MIM:269921 ORPHA:3166 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		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 GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM: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 MIM:619603 ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		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 GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO ORPHA:529665 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM: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 MIM:301026 MIM:312870 ORPHA:2662 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP HPO ORPHA:1848 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 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 ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H4C11 H4 clustered histone 11 IAGP HPO MIM:619759 NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480 		JBrowse link
G H4C3 H4 clustered histone 3 IAGP HPO MIM:619758 NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO MIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO 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 HDAC4 histone deacetylase 4 IAGP HPO MIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO MIM:300882 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 MIM:620072 ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO MIM:616911 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 HPO ORPHA:210548 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 ORPHA:457359 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 HID1 HID1 domain containing IAGP HPO MIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166 		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 HIVEP2 HIVEP zinc finger 2 IAGP HPO MIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		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 HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP HPO MIM:620688 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO MIM: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 HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:137550 MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 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 MIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		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 IGHM immunoglobulin heavy constant mu IAGP HPO ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO MIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP HPO MIM:300143 NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO MIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:508 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 MIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G INTS8 integrator complex subunit 8 IAGP HPO MIM: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 MIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		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 IRX5 iroquois homeobox 5 IAGP HPO MIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP HPO MIM:614748 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO MIM:191830 ORPHA:1848 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO MIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO MIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		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 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 KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO MIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		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 KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:611816 ORPHA:3473 ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM: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 HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO MIM:618729 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		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 MIM:617127 ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		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 KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 MIM:607131 ORPHA:166024 ORPHA:2754 ORPHA:36 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 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 KLF13 KLF transcription factor 13 IAGP HPO MIM:612001 NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 MIM:620186 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 MIM:604321 NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO MIM:613328 ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO MIM:615637 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:609942 ORPHA:1340 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 IAGP HPO MIM:617392 NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LOC126863207 BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:10,448,939...10,450,138 JBrowse link
G LOC130065793 ATAC-STARR-seq lymphoblastoid silent region 12876 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24194475 PMID:35614220 NCBI chr20:36,605,773...36,606,082 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 LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 ORPHA:2143 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 MIM:614305 ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:178377 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO MIM:613506 ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		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 DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) HPO
RGD		 PMID:31825158 MIM:605275 MIM: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 HPO MIM: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 ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO MIM:614202 ORPHA:397941 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 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 HPO 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 DNA:missense mutations, deletions:CDS:multiple HPO
RGD		 PMID:27426734 MIM:157800 MIM:617137 ORPHA:1826, RGD:11552967 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 HPO MIM:619087 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 MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO MIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:620323 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO MIM:257920 ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		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 MBD5 methyl-CpG binding domain protein 5 IAGP HPO MIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		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 MED12 mediator complex subunit 12 IAGP HPO MIM:300895 MIM:305450 ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED12L mediator complex subunit 12L IAGP HPO MIM:618872 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MED13 mediator complex subunit 13 IAGP HPO MIM:618009 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO MIM:616789 ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MED27 mediator complex subunit 27 IAGP HPO MIM:619286 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:614976 ORPHA:65759 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		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 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO MIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar
HPO		 PMID:25741868 MIM:300000 ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 MIM:617121 ORPHA:110 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MLLT1 MLLT1 super elongation complex subunit IAGP ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr19:6,210,381...6,279,975
Ensembl chr19:6,210,381...6,279,975 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO MIM:618774 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO MIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO MIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO MIM:618499 ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534