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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:X-linked recessive inheritance
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Accession:HP:0001419 term browser browse the term
Definition:A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Synonyms:exact_synonym: X-LINKED RECESSIVE
 xref: UMLS:C1845977


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X-linked recessive inheritance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO MIM:300100 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AFF2 ALF transcription elongation factor 2 IAGP HPO MIM:309548 NCBI chr  X:148,500,617...149,000,663
Ensembl chr  X:148,500,617...149,000,663 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 MIM:300614 MIM:300816 MIM:310490 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO MIM:268000 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP HPO MIM:300751 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO MIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO MIM:308700 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		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 AR androgen receptor IAGP HPO MIM:300068 MIM:300633 MIM:312300 MIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP HPO MIM:300607 NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:268000 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARSL arylsulfatase L IAGP HPO MIM:302950 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:300419 MIM:308350 MIM:309510 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ATP11C ATPase phospholipid transporting 11C IAGP HPO MIM:301015 NCBI chr  X:139,726,348...139,936,903
Ensembl chr  X:139,726,346...139,945,276 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP HPO MIM:302500 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP HPO MIM:300972 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 MIM:300911 MIM:301045 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:300489 MIM:304150 MIM:309400 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP HPO MIM:300539 MIM:304800 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO MIM:300475 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		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:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BRWD3 bromodomain and WD repeat domain containing 3 IAGP HPO MIM:300659 NCBI chr  X:80,669,503...80,809,877
Ensembl chr  X:80,669,503...80,809,877 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO MIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO MIM:300476 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CD40LG CD40 ligand IAGP HPO MIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO MIM:268000 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO MIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CFP complement factor properdin IAGP HPO MIM:312060 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CHRDL1 chordin like 1 IAGP HPO MIM:309300 NCBI chr  X:110,673,856...110,795,817
Ensembl chr  X:110,673,856...110,795,819 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:300009 MIM:300554 MIM:308990 MIM:310468 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLDN2 claudin 2 IAGP HPO MIM:301060 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP HPO MIM:300886 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CLRN1 clarin 1 IAGP HPO MIM:268000 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP HPO MIM:268000 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO MIM:300914 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G CRX cone-rod homeobox IAGP HPO MIM:268000 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 IAGP HPO MIM:301116 NCBI chr  X:100,820,391...100,841,520
Ensembl chr  X:100,820,391...100,841,520 		JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO MIM:300645 MIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		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 DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP HPO MIM:300850 NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490 		JBrowse link
G DMD dystrophin IAGP HPO MIM:300376 MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO MIM:300991 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO MIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO MIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G EMD emerin IAGP HPO MIM:310300 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:306700 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F9 coagulation factor IX IAGP HPO MIM:300807 MIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP HPO MIM:300261 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:300514 MIM:314390 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO MIM:301058 MIM:301095 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FGF16 fibroblast growth factor 16 IAGP HPO MIM:309630 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 MIM:300696 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300048 MIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO MIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP HPO MIM:309549 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:300367 MIM:300835 MIM:301083 MIM:314050 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO MIM:304400 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO MIM:304400 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		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 GLA galactosidase alpha IAGP HPO MIM:301500 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:301026 MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPR143 G protein-coupled receptor 143 IAGP HPO MIM:300814 NCBI chr  X:9,725,346...9,778,602
Ensembl chr  X:9,725,346...9,786,297 		JBrowse link
G GPRASP2 G protein-coupled receptor associated sorting protein 2 IAGP HPO MIM:301018 NCBI chr  X:102,712,448...102,717,733
Ensembl chr  X:102,712,445...102,717,733 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO MIM:300699 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G HCFC1 host cell factor C1 IAGP HPO MIM:309541 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO MIM:300322 MIM:300323 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		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 IDS iduronate 2-sulfatase IAGP HPO MIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO MIM:300472 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP HPO MIM:300888 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:300291 MIM:300636 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		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 IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:300400 MIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO MIM:309530 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G IRS4 insulin receptor substrate 4 IAGP HPO MIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIF4A kinesin family member 4A IAGP HPO MIM:300923 NCBI chr  X:70,290,104...70,420,886
Ensembl chr  X:70,290,104...70,420,886 		JBrowse link
G KLHL15 kelch like family member 15 IAGP HPO MIM:300982 NCBI chr  X:23,983,720...24,027,186
Ensembl chr  X:23,983,716...24,027,186 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO MIM:303350 MIM:304100 MIM:307000 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO MIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP HPO MIM:309585 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO MIM:268000 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G MAGED2 MAGE family member D2 IAGP HPO MIM:300971 NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 MIM:301031 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MAMLD1 mastermind like domain containing 1 IAGP HPO MIM:300758 NCBI chr  X:150,361,572...150,514,173
Ensembl chr  X:150,361,422...150,514,178 		JBrowse link
G MAOA monoamine oxidase A IAGP HPO MIM:300615 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:300918 MIM:301014 MIM:308205 MIM:308800 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCTS1 MCTS1 re-initiation and release factor IAGP HPO MIM:301115 NCBI chr  X:120,604,101...120,621,159
Ensembl chr  X:120,594,010...120,621,159 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300055 MIM:300260 MIM:300673 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:300895 MIM:305450 MIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MID2 midline 2 IAGP HPO MIM:300928 NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637 		JBrowse link
G MSN moesin IAGP HPO MIM:300988 NCBI chr  X:65,588,377...65,741,931
Ensembl chr  X:65,588,377...65,741,931 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO MIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		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 NDP norrin cystine knot growth factor NDP IAGP HPO MIM:305390 MIM:310600 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO MIM:301020 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NKAP NFKB activating protein IAGP HPO MIM:301039 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO MIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO MIM:300831 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NYX nyctalopin IAGP HPO MIM:310500 NCBI chr  X:41,447,343...41,475,652
Ensembl chr  X:41,447,343...41,475,710 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM:300555 MIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:300209 MIM:300424 MIM:300804 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase IAGP HPO MIM:300997 NCBI chr  X:71,533,104...71,575,892
Ensembl chr  X:71,533,087...71,575,892 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO MIM:300486 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP HPO MIM:303700 MIM:303900 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP HPO MIM:303700 MIM:303800 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO MIM:311250 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		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 PDE6G phosphodiesterase 6G IAGP HPO MIM:268000 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP HPO MIM:300653 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
G PHF6 PHD finger protein 6 IAGP HPO MIM:301900 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO MIM:300263 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO MIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO MIM:306000 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 MIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 MIM:312920 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POF1B POF1B actin binding protein IAGP HPO MIM:300604 NCBI chr  X:85,277,396...85,379,665
Ensembl chr  X:85,277,396...85,379,717 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO MIM:301030 MIM:301220 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO MIM:304400 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:300661 MIM:301835 MIM:304500 MIM:311070 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PTCHD1 patched domain containing 1 IAGP HPO MIM:300830 NCBI chr  X:23,334,396...23,404,374
Ensembl chr  X:23,334,849...23,404,374 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO MIM:300271 MIM:311510 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO MIM:311900 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO MIM:300238 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO MIM:268000 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP HPO MIM:300978 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP HPO MIM:268000 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO MIM:300455 MIM:300834 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RS1 retinoschisin 1 IAGP HPO MIM:312700 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP HPO MIM:300310 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO MIM:300523 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO MIM:300243 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 SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:300590 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO MIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SMS spermine synthase IAGP HPO MIM:309583 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO MIM:300934 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO MIM:301043 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STS steroid sulfatase IAGP HPO MIM:308100 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G SYN1 synapsin I IAGP HPO MIM:300491 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G SYP synaptophysin IAGP HPO MIM:300802 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 MIM:314250 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		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 TEX11 testis expressed 11 IAGP HPO MIM:309120 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO MIM:300957 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO MIM:304700 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO MIM:301051 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP HPO MIM:300872 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO MIM:313400 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TSPAN7 tetraspanin 7 IAGP HPO MIM:300210 NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO MIM:300946 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		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 UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO MIM:300676 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP HPO MIM:300984 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO MIM:300919 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO MIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:300299 MIM:301000 MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 IAGP HPO MIM:309610 NCBI chr  X:54,192,823...54,358,900
Ensembl chr  X:54,192,823...54,358,642 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:300635 MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO MIM:306955 MIM:314390 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73841
    Mode of inheritance 4780
      Mendelian inheritance 4726
        X-linked inheritance 260
          X-linked recessive inheritance 183
paths to the root