commit 0e40df46d91bf2928e75d974004dbc3f655d5dc3
Author: David Lagorce <david.lagorce@inserm.fr>
Date: Wed Sep 1 11:11:29 2021 +0200
SEPT 2021
diff --git for en_product6.xml between August 2021 and September 2021
old mode 100644
new mode 100755
index aaae940..fe1b51b
a/​Genesb/​Genes
1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>
2 <JDBOR·​date="2021-​08-​01·​04:​46:​43"·​version="1.​3.​7·​/​·​4.​1.​7·​[2020-​12-​03]·​(orientdb·​version)​"·​copyright="Orphanet·​(c)​·​2021"·​dbserver="jdbc:​sybase:​Tds:​canard.​orpha.​net:​2020">2 <JDBOR·​date="2021-​09-​01·​04:​48:​17"·​version="1.​3.​7·​/​·​4.​1.​7·​[2020-​12-​03]·​(orientdb·​version)​"·​copyright="Orphanet·​(c)​·​2021"·​dbserver="jdbc:​sybase:​Tds:​canard.​orpha.​net:​2020">
3 ··​<Availability>·3 ··​<Availability>·
4 ····​<Licence>4 ····​<Licence>
5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>
7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>
8 ····​</​Licence>8 ····​</​Licence>
9 ··​</​Availability>9 ··​</​Availability>
10 ··​<DisorderList·​count="3877">10 ··​<DisorderList·​count="3879">
11 ····​<Disorder·​id="17601">11 ····​<Disorder·​id="17601">
12 ······​<OrphaCode>166024</​OrphaCode>12 ······​<OrphaCode>166024</​OrphaCode>
13 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=166024</​ExpertLink>13 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=166024</​ExpertLink>
176 ··············​</​ExternalReference>176 ··············​</​ExternalReference>
177 ············​</​ExternalReferenceList​>177 ············​</​ExternalReferenceList​>
178 ············​<LocusList·​count="1">178 ············​<LocusList·​count="1">
179 ··············​<Locus·​id="66873">179 ··············​<Locus·​id="78347">
180 ················​<GeneLocus>5q12.​3</​GeneLocus>180 ················​<GeneLocus>5q12.​3</​GeneLocus>
181 ················​<LocusKey>1</​LocusKey>181 ················​<LocusKey>1</​LocusKey>
182 ··············​</​Locus>182 ··············​</​Locus>
3587 ··············​</​ExternalReference>3587 ··············​</​ExternalReference>
3588 ············​</​ExternalReferenceList​>3588 ············​</​ExternalReferenceList​>
3589 ············​<LocusList·​count="1">3589 ············​<LocusList·​count="1">
3590 ··············​<Locus·​id="68293">3590 ··············​<Locus·​id="79367">
3591 ················​<GeneLocus>1q32.​1</​GeneLocus>3591 ················​<GeneLocus>1q32.​1</​GeneLocus>
3592 ················​<LocusKey>1</​LocusKey>3592 ················​<LocusKey>1</​LocusKey>
3593 ··············​</​Locus>3593 ··············​</​Locus>
3718 ············​<GeneType·​id="25993">3718 ············​<GeneType·​id="25993">
3719 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>3719 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
3720 ············​</​GeneType>3720 ············​</​GeneType>
3721 ············​<ExternalReferenceLis​t·​count="1">3721 ············​<ExternalReferenceLis​t·​count="3">
3722 ··············​<ExternalReference·​id="194197">3722 ··············​<ExternalReference·​id="194197">
3723 ················​<Source>HGNC</​Source>3723 ················​<Source>HGNC</​Source>
3724 ················​<Reference>1815</​Reference>3724 ················​<Reference>1815</​Reference>
3725 ··············​</​ExternalReference>3725 ··············​</​ExternalReference>
3726 ··············​<ExternalReference·​id="194794">
3727 ················​<Source>Ensembl</​Source>
3728 ················​<Reference>ENSG000001​70956</​Reference>
3729 ··············​</​ExternalReference>
3730 ··············​<ExternalReference·​id="194795">
3731 ················​<Source>OMIM</​Source>
3732 ················​<Reference>609142</​Reference>
3733 ··············​</​ExternalReference>
3726 ············​</​ExternalReferenceList​>3734 ············​</​ExternalReferenceList​>
3727 ············​<LocusList·​count="1">3735 ············​<LocusList·​count="1">
3728 ··············​<Locus·​id="69387">3736 ··············​<Locus·​id="78601">
3729 ················​<GeneLocus>19q13.​2</​GeneLocus>3737 ················​<GeneLocus>19q13.​2</​GeneLocus>
3730 ················​<LocusKey>1</​LocusKey>3738 ················​<LocusKey>1</​LocusKey>
3731 ··············​</​Locus>3739 ··············​</​Locus>
3748 ············​<GeneType·​id="25993">3756 ············​<GeneType·​id="25993">
3749 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>3757 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
3750 ············​</​GeneType>3758 ············​</​GeneType>
3751 ············​<ExternalReferenceLis​t·​count="1">3759 ············​<ExternalReferenceLis​t·​count="3">
3760 ··············​<ExternalReference·​id="194801">
3761 ················​<Source>OMIM</​Source>
3762 ················​<Reference>163980</​Reference>
3763 ··············​</​ExternalReference>
3752 ··············​<ExternalReference·​id="194198">3764 ··············​<ExternalReference·​id="194198">
3753 ················​<Source>HGNC</​Source>3765 ················​<Source>HGNC</​Source>
3754 ················​<Reference>1818</​Reference>3766 ················​<Reference>1818</​Reference>
3755 ··············​</​ExternalReference>3767 ··············​</​ExternalReference>
3768 ··············​<ExternalReference·​id="194800">
3769 ················​<Source>Ensembl</​Source>
3770 ················​<Reference>ENSG000000​86548</​Reference>
3771 ··············​</​ExternalReference>
3756 ············​</​ExternalReferenceList​>3772 ············​</​ExternalReferenceList​>
3757 ············​<LocusList·​count="1">3773 ············​<LocusList·​count="1">
3758 ··············​<Locus·​id="69389">3774 ··············​<Locus·​id="78611">
3759 ················​<GeneLocus>19q13.​2</​GeneLocus>3775 ················​<GeneLocus>19q13.​2</​GeneLocus>
3760 ················​<LocusKey>1</​LocusKey>3776 ················​<LocusKey>1</​LocusKey>
3761 ··············​</​Locus>3777 ··············​</​Locus>
3835 ············​<GeneType·​id="25993">3851 ············​<GeneType·​id="25993">
3836 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>3852 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
3837 ············​</​GeneType>3853 ············​</​GeneType>
3838 ············​<ExternalReferenceLis​t·​count="1">3854 ············​<ExternalReferenceLis​t·​count="3">
3839 ··············​<ExternalReference·​id="194199">3855 ··············​<ExternalReference·​id="194199">
3840 ················​<Source>HGNC</​Source>3856 ················​<Source>HGNC</​Source>
3841 ················​<Reference>4635</​Reference>3857 ················​<Reference>4635</​Reference>
3842 ··············​</​ExternalReference>3858 ··············​</​ExternalReference>
3859 ··············​<ExternalReference·​id="194797">
3860 ················​<Source>Ensembl</​Source>
3861 ················​<Reference>ENSG000001​34202</​Reference>
3862 ··············​</​ExternalReference>
3863 ··············​<ExternalReference·​id="194798">
3864 ················​<Source>OMIM</​Source>
3865 ················​<Reference>138390</​Reference>
3866 ··············​</​ExternalReference>
3843 ············​</​ExternalReferenceList​>3867 ············​</​ExternalReferenceList​>
3844 ············​<LocusList·​count="1">3868 ············​<LocusList·​count="1">
3845 ··············​<Locus·​id="69391">3869 ··············​<Locus·​id="78609">
3846 ················​<GeneLocus>1p13.​3</​GeneLocus>3870 ················​<GeneLocus>1p13.​3</​GeneLocus>
3847 ················​<LocusKey>1</​LocusKey>3871 ················​<LocusKey>1</​LocusKey>
3848 ··············​</​Locus>3872 ··············​</​Locus>
5258 ············​<Symbol>DUX4L1</​Symbol>5282 ············​<Symbol>DUX4L1</​Symbol>
5259 ············​<SynonymList·​count="0">5283 ············​<SynonymList·​count="0">
5260 ············​</​SynonymList>5284 ············​</​SynonymList>
5261 ············​<GeneType·​id="25993">5285 ············​<GeneType·​id="26046">
5262 ··············​<Name·​lang="en">gene·with·protein·product</​Name>5286 ··············​<Name·​lang="en">Non-​coding·RNA</​Name>
5263 ············​</​GeneType>5287 ············​</​GeneType>
5264 ············​<ExternalReferenceLis​t·​count="2">5288 ············​<ExternalReferenceLis​t·​count="2">
5265 ··············​<ExternalReference·​id="96210">5289 ··············​<ExternalReference·​id="96210">
14505 ··············​</​ExternalReference>14529 ··············​</​ExternalReference>
14506 ············​</​ExternalReferenceList​>14530 ············​</​ExternalReferenceList​>
14507 ············​<LocusList·​count="1">14531 ············​<LocusList·​count="1">
14508 ··············​<Locus·​id="69273">14532 ··············​<Locus·​id="79857">
14509 ················​<GeneLocus>7q11.​23</​GeneLocus>14533 ················​<GeneLocus>7q11.​23</​GeneLocus>
14510 ················​<LocusKey>1</​LocusKey>14534 ················​<LocusKey>1</​LocusKey>
14511 ··············​</​Locus>14535 ··············​</​Locus>
14549 ··············​</​ExternalReference>14573 ··············​</​ExternalReference>
14550 ············​</​ExternalReferenceList​>14574 ············​</​ExternalReferenceList​>
14551 ············​<LocusList·​count="1">14575 ············​<LocusList·​count="1">
14552 ··············​<Locus·​id="62329">14576 ··············​<Locus·​id="78473">
14553 ················​<GeneLocus>7q11.​23</​GeneLocus>14577 ················​<GeneLocus>7q11.​23</​GeneLocus>
14554 ················​<LocusKey>1</​LocusKey>14578 ················​<LocusKey>1</​LocusKey>
14555 ··············​</​Locus>14579 ··············​</​Locus>
14587 ··············​</​ExternalReference>14611 ··············​</​ExternalReference>
14588 ············​</​ExternalReferenceList​>14612 ············​</​ExternalReferenceList​>
14589 ············​<LocusList·​count="1">14613 ············​<LocusList·​count="1">
14590 ··············​<Locus·​id="69269">14614 ··············​<Locus·​id="79855">
14591 ················​<GeneLocus>7q11.​23</​GeneLocus>14615 ················​<GeneLocus>7q11.​23</​GeneLocus>
14592 ················​<LocusKey>1</​LocusKey>14616 ················​<LocusKey>1</​LocusKey>
14593 ··············​</​Locus>14617 ··············​</​Locus>
14625 ··············​</​ExternalReference>14649 ··············​</​ExternalReference>
14626 ············​</​ExternalReferenceList​>14650 ············​</​ExternalReferenceList​>
14627 ············​<LocusList·​count="1">14651 ············​<LocusList·​count="1">
14628 ··············​<Locus·​id="69265">14652 ··············​<Locus·​id="79853">
14629 ················​<GeneLocus>7q11.​23</​GeneLocus>14653 ················​<GeneLocus>7q11.​23</​GeneLocus>
14630 ················​<LocusKey>1</​LocusKey>14654 ················​<LocusKey>1</​LocusKey>
14631 ··············​</​Locus>14655 ··············​</​Locus>
14663 ··············​</​ExternalReference>14687 ··············​</​ExternalReference>
14664 ············​</​ExternalReferenceList​>14688 ············​</​ExternalReferenceList​>
14665 ············​<LocusList·​count="1">14689 ············​<LocusList·​count="1">
14666 ··············​<Locus·​id="69261">14690 ··············​<Locus·​id="79851">
14667 ················​<GeneLocus>7q11.​23</​GeneLocus>14691 ················​<GeneLocus>7q11.​23</​GeneLocus>
14668 ················​<LocusKey>1</​LocusKey>14692 ················​<LocusKey>1</​LocusKey>
14669 ··············​</​Locus>14693 ··············​</​Locus>
14697 ··············​</​ExternalReference>14721 ··············​</​ExternalReference>
14698 ············​</​ExternalReferenceList​>14722 ············​</​ExternalReferenceList​>
14699 ············​<LocusList·​count="1">14723 ············​<LocusList·​count="1">
14700 ··············​<Locus·​id="69289">14724 ··············​<Locus·​id="79865">
14701 ················​<GeneLocus>7q11.​23</​GeneLocus>14725 ················​<GeneLocus>7q11.​23</​GeneLocus>
14702 ················​<LocusKey>1</​LocusKey>14726 ················​<LocusKey>1</​LocusKey>
14703 ··············​</​Locus>14727 ··············​</​Locus>
14735 ··············​</​ExternalReference>14759 ··············​</​ExternalReference>
14736 ············​</​ExternalReferenceList​>14760 ············​</​ExternalReferenceList​>
14737 ············​<LocusList·​count="1">14761 ············​<LocusList·​count="1">
14738 ··············​<Locus·​id="69285">14762 ··············​<Locus·​id="79863">
14739 ················​<GeneLocus>7q11.​23</​GeneLocus>14763 ················​<GeneLocus>7q11.​23</​GeneLocus>
14740 ················​<LocusKey>1</​LocusKey>14764 ················​<LocusKey>1</​LocusKey>
14741 ··············​</​Locus>14765 ··············​</​Locus>
14773 ··············​</​ExternalReference>14797 ··············​</​ExternalReference>
14774 ············​</​ExternalReferenceList​>14798 ············​</​ExternalReferenceList​>
14775 ············​<LocusList·​count="1">14799 ············​<LocusList·​count="1">
14776 ··············​<Locus·​id="69281">14800 ··············​<Locus·​id="79861">
14777 ················​<GeneLocus>7q11.​23</​GeneLocus>14801 ················​<GeneLocus>7q11.​23</​GeneLocus>
14778 ················​<LocusKey>1</​LocusKey>14802 ················​<LocusKey>1</​LocusKey>
14779 ··············​</​Locus>14803 ··············​</​Locus>
14811 ··············​</​ExternalReference>14835 ··············​</​ExternalReference>
14812 ············​</​ExternalReferenceList​>14836 ············​</​ExternalReferenceList​>
14813 ············​<LocusList·​count="1">14837 ············​<LocusList·​count="1">
14814 ··············​<Locus·​id="69277">14838 ··············​<Locus·​id="79859">
14815 ················​<GeneLocus>7q11.​23</​GeneLocus>14839 ················​<GeneLocus>7q11.​23</​GeneLocus>
14816 ················​<LocusKey>1</​LocusKey>14840 ················​<LocusKey>1</​LocusKey>
14817 ··············​</​Locus>14841 ··············​</​Locus>
14849 ··············​</​ExternalReference>14873 ··············​</​ExternalReference>
14850 ············​</​ExternalReferenceList​>14874 ············​</​ExternalReferenceList​>
14851 ············​<LocusList·​count="1">14875 ············​<LocusList·​count="1">
14852 ··············​<Locus·​id="69305">14876 ··············​<Locus·​id="79873">
14853 ················​<GeneLocus>7q11.​23</​GeneLocus>14877 ················​<GeneLocus>7q11.​23</​GeneLocus>
14854 ················​<LocusKey>1</​LocusKey>14878 ················​<LocusKey>1</​LocusKey>
14855 ··············​</​Locus>14879 ··············​</​Locus>
14887 ··············​</​ExternalReference>14911 ··············​</​ExternalReference>
14888 ············​</​ExternalReferenceList​>14912 ············​</​ExternalReferenceList​>
14889 ············​<LocusList·​count="1">14913 ············​<LocusList·​count="1">
14890 ··············​<Locus·​id="69301">14914 ··············​<Locus·​id="79871">
14891 ················​<GeneLocus>7q11.​23</​GeneLocus>14915 ················​<GeneLocus>7q11.​23</​GeneLocus>
14892 ················​<LocusKey>1</​LocusKey>14916 ················​<LocusKey>1</​LocusKey>
14893 ··············​</​Locus>14917 ··············​</​Locus>
14925 ··············​</​ExternalReference>14949 ··············​</​ExternalReference>
14926 ············​</​ExternalReferenceList​>14950 ············​</​ExternalReferenceList​>
14927 ············​<LocusList·​count="1">14951 ············​<LocusList·​count="1">
14928 ··············​<Locus·​id="69297">14952 ··············​<Locus·​id="79869">
14929 ················​<GeneLocus>7q11.​23</​GeneLocus>14953 ················​<GeneLocus>7q11.​23</​GeneLocus>
14930 ················​<LocusKey>1</​LocusKey>14954 ················​<LocusKey>1</​LocusKey>
14931 ··············​</​Locus>14955 ··············​</​Locus>
14963 ··············​</​ExternalReference>14987 ··············​</​ExternalReference>
14964 ············​</​ExternalReferenceList​>14988 ············​</​ExternalReferenceList​>
14965 ············​<LocusList·​count="1">14989 ············​<LocusList·​count="1">
14966 ··············​<Locus·​id="69293">14990 ··············​<Locus·​id="79867">
14967 ················​<GeneLocus>7q11.​23</​GeneLocus>14991 ················​<GeneLocus>7q11.​23</​GeneLocus>
14968 ················​<LocusKey>1</​LocusKey>14992 ················​<LocusKey>1</​LocusKey>
14969 ··············​</​Locus>14993 ··············​</​Locus>
15384 ··············​</​ExternalReference>15408 ··············​</​ExternalReference>
15385 ············​</​ExternalReferenceList​>15409 ············​</​ExternalReferenceList​>
15386 ············​<LocusList·​count="1">15410 ············​<LocusList·​count="1">
15387 ··············​<Locus·​id="69173">15411 ··············​<Locus·​id="79807">
15388 ················​<GeneLocus>7q11.​23</​GeneLocus>15412 ················​<GeneLocus>7q11.​23</​GeneLocus>
15389 ················​<LocusKey>1</​LocusKey>15413 ················​<LocusKey>1</​LocusKey>
15390 ··············​</​Locus>15414 ··············​</​Locus>
19325 ··············​</​ExternalReference>19349 ··············​</​ExternalReference>
19326 ············​</​ExternalReferenceList​>19350 ············​</​ExternalReferenceList​>
19327 ············​<LocusList·​count="1">19351 ············​<LocusList·​count="1">
19328 ··············​<Locus·​id="62337">19352 ··············​<Locus·​id="78477">
19329 ················​<GeneLocus>3q22.​3</​GeneLocus>19353 ················​<GeneLocus>3q22.​3</​GeneLocus>
19330 ················​<LocusKey>1</​LocusKey>19354 ················​<LocusKey>1</​LocusKey>
19331 ··············​</​Locus>19355 ··············​</​Locus>
19364 ··············​</​ExternalReference>19388 ··············​</​ExternalReference>
19365 ············​</​ExternalReferenceList​>19389 ············​</​ExternalReferenceList​>
19366 ············​<LocusList·​count="1">19390 ············​<LocusList·​count="1">
19367 ··············​<Locus·​id="61095">19391 ··············​<Locus·​id="77901">
19368 ················​<GeneLocus>11p15.​2</​GeneLocus>19392 ················​<GeneLocus>11p15.​2</​GeneLocus>
19369 ················​<LocusKey>1</​LocusKey>19393 ················​<LocusKey>1</​LocusKey>
19370 ··············​</​Locus>19394 ··············​</​Locus>
25740 ··············​</​ExternalReference>25764 ··············​</​ExternalReference>
25741 ············​</​ExternalReferenceList​>25765 ············​</​ExternalReferenceList​>
25742 ············​<LocusList·​count="1">25766 ············​<LocusList·​count="1">
25743 ··············​<Locus·​id="69257">25767 ··············​<Locus·​id="79849">
25744 ················​<GeneLocus>5q31.​1</​GeneLocus>25768 ················​<GeneLocus>5q31.​1</​GeneLocus>
25745 ················​<LocusKey>1</​LocusKey>25769 ················​<LocusKey>1</​LocusKey>
25746 ··············​</​Locus>25770 ··············​</​Locus>
40398 ······​<DisorderGroup·​id="36547">40422 ······​<DisorderGroup·​id="36547">
40399 ········​<Name·​lang="en">Disorder</​Name>40423 ········​<Name·​lang="en">Disorder</​Name>
40400 ······​</​DisorderGroup>40424 ······​</​DisorderGroup>
40401 ······​<DisorderGeneAssociat​ionList·​count="5">40425 ······​<DisorderGeneAssociat​ionList·​count="4">
40402 ········​<DisorderGeneAssociat​ion>40426 ········​<DisorderGeneAssociat​ion>
40403 ··········​<SourceOfValidation>2​8213671[PMID]</​SourceOfValidation>40427 ··········​<SourceOfValidation>2​8213671[PMID]</​SourceOfValidation>
40404 ··········​<Gene·​id="23144">40428 ··········​<Gene·​id="23144">
40506 ············​<Name·​lang="en">Assessed</​Name>40530 ············​<Name·​lang="en">Assessed</​Name>
40507 ··········​</​DisorderGeneAssociati​onStatus>40531 ··········​</​DisorderGeneAssociati​onStatus>
40508 ········​</​DisorderGeneAssociati​on>40532 ········​</​DisorderGeneAssociati​on>
40509 ········​<DisorderGeneAssociat​ion>
40510 ··········​<SourceOfValidation>2​2578325[PMID]</​SourceOfValidation>
40511 ··········​<Gene·​id="15186">
40512 ············​<Name·​lang="en">retinoic·​acid·​induced·​1</​Name>
40513 ············​<Symbol>RAI1</​Symbol>
40514 ············​<SynonymList·​count="4">
40515 ··············​<Synonym·​lang="en">DKFZP434A13​9</​Synonym>
40516 ··············​<Synonym·​lang="en">KIAA1820</​Synonym>
40517 ··············​<Synonym·​lang="en">MGC12824</​Synonym>
40518 ··············​<Synonym·​lang="en">SMS</​Synonym>
40519 ············​</​SynonymList>
40520 ············​<GeneType·​id="25993">
40521 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
40522 ············​</​GeneType>
40523 ············​<ExternalReferenceLis​t·​count="6">
40524 ··············​<ExternalReference·​id="57227">
40525 ················​<Source>Ensembl</​Source>
40526 ················​<Reference>ENSG000001​08557</​Reference>
40527 ··············​</​ExternalReference>
40528 ··············​<ExternalReference·​id="25321">
40529 ················​<Source>Genatlas</​Source>
40530 ················​<Reference>RAI1</​Reference>
40531 ··············​</​ExternalReference>
40532 ··············​<ExternalReference·​id="25319">
40533 ················​<Source>HGNC</​Source>
40534 ················​<Reference>9834</​Reference>
40535 ··············​</​ExternalReference>
40536 ··············​<ExternalReference·​id="25318">
40537 ················​<Source>OMIM</​Source>
40538 ················​<Reference>607642</​Reference>
40539 ··············​</​ExternalReference>
40540 ··············​<ExternalReference·​id="97162">
40541 ················​<Source>Reactome</​Source>
40542 ················​<Reference>Q7Z5J4</​Reference>
40543 ··············​</​ExternalReference>
40544 ··············​<ExternalReference·​id="33710">
40545 ················​<Source>SwissProt</​Source>
40546 ················​<Reference>Q7Z5J4</​Reference>
40547 ··············​</​ExternalReference>
40548 ············​</​ExternalReferenceList​>
40549 ············​<LocusList·​count="1">
40550 ··············​<Locus·​id="16571">
40551 ················​<GeneLocus>17p11.​2</​GeneLocus>
40552 ················​<LocusKey>1</​LocusKey>
40553 ··············​</​Locus>
40554 ············​</​LocusList>
40555 ··········​</​Gene>
40556 ··········​<DisorderGeneAssociat​ionType·​id="17985">
40557 ············​<Name·​lang="en">Role·​in·​the·​phenotype·​of</​Name>
40558 ··········​</​DisorderGeneAssociati​onType>
40559 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
40560 ············​<Name·​lang="en">Assessed</​Name>
40561 ··········​</​DisorderGeneAssociati​onStatus>
40562 ········​</​DisorderGeneAssociati​on>
40563 ········​<DisorderGeneAssociat​ion>40533 ········​<DisorderGeneAssociat​ion>
40564 ··········​<SourceOfValidation>9​177775[PMID]_7825574[​PMID]_15690371[PMID]<​/​SourceOfValidation>40534 ··········​<SourceOfValidation>9​177775[PMID]_7825574[​PMID]_15690371[PMID]<​/​SourceOfValidation>
40565 ··········​<Gene·​id="16057">40535 ··········​<Gene·​id="16057">
40894 ··············​</​ExternalReference>40864 ··············​</​ExternalReference>
40895 ············​</​ExternalReferenceList​>40865 ············​</​ExternalReferenceList​>
40896 ············​<LocusList·​count="1">40866 ············​<LocusList·​count="1">
40897 ··············​<Locus·​id="69343">40867 ··············​<Locus·​id="79879">
40898 ················​<GeneLocus>10q26.​13</​GeneLocus>40868 ················​<GeneLocus>10q26.​13</​GeneLocus>
40899 ················​<LocusKey>1</​LocusKey>40869 ················​<LocusKey>1</​LocusKey>
40900 ··············​</​Locus>40870 ··············​</​Locus>
46722 ··············​</​ExternalReference>46692 ··············​</​ExternalReference>
46723 ············​</​ExternalReferenceList​>46693 ············​</​ExternalReferenceList​>
46724 ············​<LocusList·​count="1">46694 ············​<LocusList·​count="1">
46725 ··············​<Locus·​id="66859">46695 ··············​<Locus·​id="77885">
46726 ················​<GeneLocus>7q34</​GeneLocus>46696 ················​<GeneLocus>7q34</​GeneLocus>
46727 ················​<LocusKey>1</​LocusKey>46697 ················​<LocusKey>1</​LocusKey>
46728 ··············​</​Locus>46698 ··············​</​Locus>
47077 ··············​</​ExternalReference>47047 ··············​</​ExternalReference>
47078 ············​</​ExternalReferenceList​>47048 ············​</​ExternalReferenceList​>
47079 ············​<LocusList·​count="1">47049 ············​<LocusList·​count="1">
47080 ··············​<Locus·​id="69339">47050 ··············​<Locus·​id="79877">
47081 ················​<GeneLocus>Xp22.​2</​GeneLocus>47051 ················​<GeneLocus>Xp22.​2</​GeneLocus>
47082 ················​<LocusKey>1</​LocusKey>47052 ················​<LocusKey>1</​LocusKey>
47083 ··············​</​Locus>47053 ··············​</​Locus>
63230 ··············​</​ExternalReference>63200 ··············​</​ExternalReference>
63231 ············​</​ExternalReferenceList​>63201 ············​</​ExternalReferenceList​>
63232 ············​<LocusList·​count="1">63202 ············​<LocusList·​count="1">
63233 ··············​<Locus·​id="69253">63203 ··············​<Locus·​id="79847">
63234 ················​<GeneLocus>7p22.​1</​GeneLocus>63204 ················​<GeneLocus>7p22.​1</​GeneLocus>
63235 ················​<LocusKey>1</​LocusKey>63205 ················​<LocusKey>1</​LocusKey>
63236 ··············​</​Locus>63206 ··············​</​Locus>
64382 ······​<DisorderGroup·​id="36547">64352 ······​<DisorderGroup·​id="36547">
64383 ········​<Name·​lang="en">Disorder</​Name>64353 ········​<Name·​lang="en">Disorder</​Name>
64384 ······​</​DisorderGroup>64354 ······​</​DisorderGroup>
64385 ······​<DisorderGeneAssociat​ionList·​count="8">64355 ······​<DisorderGeneAssociat​ionList·​count="14">
64386 ········​<DisorderGeneAssociat​ion>64356 ········​<DisorderGeneAssociat​ion>
64387 ··········​<SourceOfValidation>2​0301612[PMID]</​SourceOfValidation>64357 ··········​<SourceOfValidation>3​3151932[PMID]</​SourceOfValidation>
64358 ··········​<Gene·​id="15329">
64359 ············​<Name·​lang="en">ATPase·​copper·​transporting·​alpha</​Name>
64360 ············​<Symbol>ATP7A</​Symbol>
64361 ············​<SynonymList·​count="2">
64362 ··············​<Synonym·​lang="en">copper·​pump·​1</​Synonym>
64363 ··············​<Synonym·​lang="en">copper-​transporting·​ATPase·​1</​Synonym>
64364 ············​</​SynonymList>
64365 ············​<GeneType·​id="25993">
64366 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
64367 ············​</​GeneType>
64368 ············​<ExternalReferenceLis​t·​count="7">
64369 ··············​<ExternalReference·​id="193549">
64370 ················​<Source>IUPHAR</​Source>
64371 ················​<Reference>852</​Reference>
64372 ··············​</​ExternalReference>
64373 ··············​<ExternalReference·​id="57097">
64374 ················​<Source>Ensembl</​Source>
64375 ················​<Reference>ENSG000001​65240</​Reference>
64376 ··············​</​ExternalReference>
64377 ··············​<ExternalReference·​id="25999">
64378 ················​<Source>Genatlas</​Source>
64379 ················​<Reference>ATP7A</​Reference>
64380 ··············​</​ExternalReference>
64381 ··············​<ExternalReference·​id="25997">
64382 ················​<Source>HGNC</​Source>
64383 ················​<Reference>869</​Reference>
64384 ··············​</​ExternalReference>
64385 ··············​<ExternalReference·​id="25996">
64386 ················​<Source>OMIM</​Source>
64387 ················​<Reference>300011</​Reference>
64388 ··············​</​ExternalReference>
64389 ··············​<ExternalReference·​id="57098">
64390 ················​<Source>Reactome</​Source>
64391 ················​<Reference>Q04656</​Reference>
64392 ··············​</​ExternalReference>
64393 ··············​<ExternalReference·​id="33886">
64394 ················​<Source>SwissProt</​Source>
64395 ················​<Reference>Q04656</​Reference>
64396 ··············​</​ExternalReference>
64397 ············​</​ExternalReferenceList​>
64398 ············​<LocusList·​count="1">
64399 ··············​<Locus·​id="66507">
64400 ················​<GeneLocus>Xq21.​1</​GeneLocus>
64401 ················​<LocusKey>1</​LocusKey>
64402 ··············​</​Locus>
64403 ············​</​LocusList>
64404 ··········​</​Gene>
64405 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64406 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
64407 ··········​</​DisorderGeneAssociati​onType>
64408 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64409 ············​<Name·​lang="en">Assessed</​Name>
64410 ··········​</​DisorderGeneAssociati​onStatus>
64411 ········​</​DisorderGeneAssociati​on>
64412 ········​<DisorderGeneAssociat​ion>
64413 ··········​<SourceOfValidation>3​3151932[PMID]</​SourceOfValidation>
64414 ··········​<Gene·​id="15058">
64415 ············​<Name·​lang="en">ATP·​binding·​cassette·​subfamily·​D·​member·​1</​Name>
64416 ············​<Symbol>ABCD1</​Symbol>
64417 ············​<SynonymList·​count="3">
64418 ··············​<Synonym·​lang="en">ALDP</​Synonym>
64419 ··············​<Synonym·​lang="en">AMN</​Synonym>
64420 ··············​<Synonym·​lang="en">adrenoleuko​dystrophy</​Synonym>
64421 ············​</​SynonymList>
64422 ············​<GeneType·​id="25993">
64423 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
64424 ············​</​GeneType>
64425 ············​<ExternalReferenceLis​t·​count="7">
64426 ··············​<ExternalReference·​id="193562">
64427 ················​<Source>IUPHAR</​Source>
64428 ················​<Reference>788</​Reference>
64429 ··············​</​ExternalReference>
64430 ··············​<ExternalReference·​id="60070">
64431 ················​<Source>Ensembl</​Source>
64432 ················​<Reference>ENSG000001​01986</​Reference>
64433 ··············​</​ExternalReference>
64434 ··············​<ExternalReference·​id="24700">
64435 ················​<Source>Genatlas</​Source>
64436 ················​<Reference>ABCD1</​Reference>
64437 ··············​</​ExternalReference>
64438 ··············​<ExternalReference·​id="24702">
64439 ················​<Source>HGNC</​Source>
64440 ················​<Reference>61</​Reference>
64441 ··············​</​ExternalReference>
64442 ··············​<ExternalReference·​id="24701">
64443 ················​<Source>OMIM</​Source>
64444 ················​<Reference>300371</​Reference>
64445 ··············​</​ExternalReference>
64446 ··············​<ExternalReference·​id="60071">
64447 ················​<Source>Reactome</​Source>
64448 ················​<Reference>P33897</​Reference>
64449 ··············​</​ExternalReference>
64450 ··············​<ExternalReference·​id="32335">
64451 ················​<Source>SwissProt</​Source>
64452 ················​<Reference>P33897</​Reference>
64453 ··············​</​ExternalReference>
64454 ············​</​ExternalReferenceList​>
64455 ············​<LocusList·​count="1">
64456 ··············​<Locus·​id="66533">
64457 ················​<GeneLocus>Xq28</​GeneLocus>
64458 ················​<LocusKey>1</​LocusKey>
64459 ··············​</​Locus>
64460 ············​</​LocusList>
64461 ··········​</​Gene>
64462 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64463 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
64464 ··········​</​DisorderGeneAssociati​onType>
64465 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64466 ············​<Name·​lang="en">Assessed</​Name>
64467 ··········​</​DisorderGeneAssociati​onStatus>
64468 ········​</​DisorderGeneAssociati​on>
64469 ········​<DisorderGeneAssociat​ion>
64470 ··········​<SourceOfValidation>3​3497358[PMID]</​SourceOfValidation>
64471 ··········​<Gene·​id="26625">
64472 ············​<Name·​lang="en">erb-​b2·​receptor·​tyrosine·​kinase·​2</​Name>
64473 ············​<Symbol>ERBB2</​Symbol>
64474 ············​<SynonymList·​count="6">
64475 ··············​<Synonym·​lang="en">CD340</​Synonym>
64476 ··············​<Synonym·​lang="en">HER-​2</​Synonym>
64477 ··············​<Synonym·​lang="en">HER2</​Synonym>
64478 ··············​<Synonym·​lang="en">NEU</​Synonym>
64479 ··············​<Synonym·​lang="en">human·​epidermal·​growth·​factor·​receptor·​2</​Synonym>
64480 ··············​<Synonym·​lang="en">neuro/​glioblastoma·​derived·​oncogene·​homolog</​Synonym>
64481 ············​</​SynonymList>
64482 ············​<GeneType·​id="25993">
64483 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
64484 ············​</​GeneType>
64485 ············​<ExternalReferenceLis​t·​count="5">
64486 ··············​<ExternalReference·​id="191077">
64487 ················​<Source>OMIM</​Source>
64488 ················​<Reference>164870</​Reference>
64489 ··············​</​ExternalReference>
64490 ··············​<ExternalReference·​id="156680">
64491 ················​<Source>IUPHAR</​Source>
64492 ················​<Reference>2019</​Reference>
64493 ··············​</​ExternalReference>
64494 ··············​<ExternalReference·​id="156679">
64495 ················​<Source>Ensembl</​Source>
64496 ················​<Reference>ENSG000001​41736</​Reference>
64497 ··············​</​ExternalReference>
64498 ··············​<ExternalReference·​id="156765">
64499 ················​<Source>Genatlas</​Source>
64500 ················​<Reference>ERBB2</​Reference>
64501 ··············​</​ExternalReference>
64502 ··············​<ExternalReference·​id="156317">
64503 ················​<Source>HGNC</​Source>
64504 ················​<Reference>3430</​Reference>
64505 ··············​</​ExternalReference>
64506 ············​</​ExternalReferenceList​>
64507 ············​<LocusList·​count="1">
64508 ··············​<Locus·​id="78115">
64509 ················​<GeneLocus>17q12</​GeneLocus>
64510 ················​<LocusKey>1</​LocusKey>
64511 ··············​</​Locus>
64512 ············​</​LocusList>
64513 ··········​</​Gene>
64514 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64515 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
64516 ··········​</​DisorderGeneAssociati​onType>
64517 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64518 ············​<Name·​lang="en">Assessed</​Name>
64519 ··········​</​DisorderGeneAssociati​onStatus>
64520 ········​</​DisorderGeneAssociati​on>
64521 ········​<DisorderGeneAssociat​ion>
64522 ··········​<SourceOfValidation>3​3497358[PMID]</​SourceOfValidation>
64523 ··········​<Gene·​id="17461">
64524 ············​<Name·​lang="en">erb-​b2·​receptor·​tyrosine·​kinase·​3</​Name>
64525 ············​<Symbol>ERBB3</​Symbol>
64526 ············​<SynonymList·​count="2">
64527 ··············​<Synonym·​lang="en">HER3</​Synonym>
64528 ··············​<Synonym·​lang="en">human·​epidermal·​growth·​factor·​receptor·​3</​Synonym>
64529 ············​</​SynonymList>
64530 ············​<GeneType·​id="25993">
64531 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
64532 ············​</​GeneType>
64533 ············​<ExternalReferenceLis​t·​count="7">
64534 ··············​<ExternalReference·​id="83097">
64535 ················​<Source>IUPHAR</​Source>
64536 ················​<Reference>1798</​Reference>
64537 ··············​</​ExternalReference>
64538 ··············​<ExternalReference·​id="38184">
64539 ················​<Source>OMIM</​Source>
64540 ················​<Reference>190151</​Reference>
64541 ··············​</​ExternalReference>
64542 ··············​<ExternalReference·​id="60057">
64543 ················​<Source>Reactome</​Source>
64544 ················​<Reference>P21860</​Reference>
64545 ··············​</​ExternalReference>
64546 ··············​<ExternalReference·​id="38183">
64547 ················​<Source>SwissProt</​Source>
64548 ················​<Reference>P21860</​Reference>
64549 ··············​</​ExternalReference>
64550 ··············​<ExternalReference·​id="60056">
64551 ················​<Source>Ensembl</​Source>
64552 ················​<Reference>ENSG000000​65361</​Reference>
64553 ··············​</​ExternalReference>
64554 ··············​<ExternalReference·​id="38182">
64555 ················​<Source>Genatlas</​Source>
64556 ················​<Reference>ERBB3</​Reference>
64557 ··············​</​ExternalReference>
64558 ··············​<ExternalReference·​id="38185">
64559 ················​<Source>HGNC</​Source>
64560 ················​<Reference>3431</​Reference>
64561 ··············​</​ExternalReference>
64562 ············​</​ExternalReferenceList​>
64563 ············​<LocusList·​count="1">
64564 ··············​<Locus·​id="22049">
64565 ················​<GeneLocus>12q13.​2</​GeneLocus>
64566 ················​<LocusKey>1</​LocusKey>
64567 ··············​</​Locus>
64568 ············​</​LocusList>
64569 ··········​</​Gene>
64570 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64571 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
64572 ··········​</​DisorderGeneAssociati​onType>
64573 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64574 ············​<Name·​lang="en">Assessed</​Name>
64575 ··········​</​DisorderGeneAssociati​onStatus>
64576 ········​</​DisorderGeneAssociati​on>
64577 ········​<DisorderGeneAssociat​ion>
64578 ··········​<SourceOfValidation>3​2413283[PMID]</​SourceOfValidation>
64579 ··········​<Gene·​id="23908">
64580 ············​<Name·​lang="en">smoothened,​·​frizzled·​class·​receptor</​Name>
64581 ············​<Symbol>SMO</​Symbol>
64582 ············​<SynonymList·​count="2">
64583 ··············​<Synonym·​lang="en">FZD11</​Synonym>
64584 ··············​<Synonym·​lang="en">frizzled·​family·​member·​11</​Synonym>
64585 ············​</​SynonymList>
64586 ············​<GeneType·​id="25993">
64587 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
64588 ············​</​GeneType>
64589 ············​<ExternalReferenceLis​t·​count="7">
64590 ··············​<ExternalReference·​id="103982">
64591 ················​<Source>HGNC</​Source>
64592 ················​<Reference>11119</​Reference>
64593 ··············​</​ExternalReference>
64594 ··············​<ExternalReference·​id="103983">
64595 ················​<Source>OMIM</​Source>
64596 ················​<Reference>601500</​Reference>
64597 ··············​</​ExternalReference>
64598 ··············​<ExternalReference·​id="103984">
64599 ················​<Source>Genatlas</​Source>
64600 ················​<Reference>SMO</​Reference>
64601 ··············​</​ExternalReference>
64602 ··············​<ExternalReference·​id="103985">
64603 ················​<Source>SwissProt</​Source>
64604 ················​<Reference>Q99835</​Reference>
64605 ··············​</​ExternalReference>
64606 ··············​<ExternalReference·​id="103986">
64607 ················​<Source>Reactome</​Source>
64608 ················​<Reference>Q99835</​Reference>
64609 ··············​</​ExternalReference>
64610 ··············​<ExternalReference·​id="103987">
64611 ················​<Source>Ensembl</​Source>
64612 ················​<Reference>ENSG000001​28602</​Reference>
64613 ··············​</​ExternalReference>
64614 ··············​<ExternalReference·​id="103988">
64615 ················​<Source>IUPHAR</​Source>
64616 ················​<Reference>239</​Reference>
64617 ··············​</​ExternalReference>
64618 ············​</​ExternalReferenceList​>
64619 ············​<LocusList·​count="1">
64620 ··············​<Locus·​id="20333">
64621 ················​<GeneLocus>7q32.​1</​GeneLocus>
64622 ················​<LocusKey>1</​LocusKey>
64623 ··············​</​Locus>
64624 ············​</​LocusList>
64625 ··········​</​Gene>
64626 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64627 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
64628 ··········​</​DisorderGeneAssociati​onType>
64629 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64630 ············​<Name·​lang="en">Assessed</​Name>
64631 ··········​</​DisorderGeneAssociati​onStatus>
64632 ········​</​DisorderGeneAssociati​on>
64633 ········​<DisorderGeneAssociat​ion>
64634 ··········​<SourceOfValidation>3​1609069[PMID]</​SourceOfValidation>
64388 ··········​<Gene·​id="15200">64635 ··········​<Gene·​id="15200">
64389 ············​<Name·​lang="en">ret·​proto-​oncogene</​Name>64636 ············​<Name·​lang="en">ret·​proto-​oncogene</​Name>
64390 ············​<Symbol>RET</​Symbol>64637 ············​<Symbol>RET</​Symbol>
64437 ··············​</​Locus>64684 ··············​</​Locus>
64438 ············​</​LocusList>64685 ············​</​LocusList>
64439 ··········​</​Gene>64686 ··········​</​Gene>
64440 ··········​<DisorderGeneAssociat​ionType·​id="17961">64687 ··········​<DisorderGeneAssociat​ionType·​id="17949">
64441 ············​<Name·​lang="en">Major·susceptibility·factor·​in</​Name>64688 ············​<Name·​lang="en">Disease-​causing·germline·mutation(s)​·​in</​Name>
64442 ··········​</​DisorderGeneAssociati​onType>64689 ··········​</​DisorderGeneAssociati​onType>
64443 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">64690 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
64444 ············​<Name·​lang="en">Assessed</​Name>64691 ············​<Name·​lang="en">Assessed</​Name>
64807 ············​<Name·​lang="en">Assessed</​Name>65054 ············​<Name·​lang="en">Assessed</​Name>
64808 ··········​</​DisorderGeneAssociati​onStatus>65055 ··········​</​DisorderGeneAssociati​onStatus>
64809 ········​</​DisorderGeneAssociati​on>65056 ········​</​DisorderGeneAssociati​on>
65057 ········​<DisorderGeneAssociat​ion>
65058 ··········​<SourceOfValidation>3​3151932[PMID]</​SourceOfValidation>
65059 ··········​<Gene·​id="30664">
65060 ············​<Name·​lang="en">sterol·​regulatory·​element·​binding·​transcription·​factor·​1</​Name>
65061 ············​<Symbol>SREBF1</​Symbol>
65062 ············​<SynonymList·​count="0">
65063 ············​</​SynonymList>
65064 ············​<GeneType·​id="25993">
65065 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
65066 ············​</​GeneType>
65067 ············​<ExternalReferenceLis​t·​count="3">
65068 ··············​<ExternalReference·​id="196360">
65069 ················​<Source>OMIM</​Source>
65070 ················​<Reference>184756</​Reference>
65071 ··············​</​ExternalReference>
65072 ··············​<ExternalReference·​id="195857">
65073 ················​<Source>HGNC</​Source>
65074 ················​<Reference>11289</​Reference>
65075 ··············​</​ExternalReference>
65076 ··············​<ExternalReference·​id="196359">
65077 ················​<Source>Ensembl</​Source>
65078 ················​<Reference>ENSG000000​72310</​Reference>
65079 ··············​</​ExternalReference>
65080 ············​</​ExternalReferenceList​>
65081 ············​<LocusList·​count="1">
65082 ··············​<Locus·​id="78621">
65083 ················​<GeneLocus>17p11.​2</​GeneLocus>
65084 ················​<LocusKey>1</​LocusKey>
65085 ··············​</​Locus>
65086 ············​</​LocusList>
65087 ··········​</​Gene>
65088 ··········​<DisorderGeneAssociat​ionType·​id="17949">
65089 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
65090 ··········​</​DisorderGeneAssociati​onType>
65091 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
65092 ············​<Name·​lang="en">Assessed</​Name>
65093 ··········​</​DisorderGeneAssociati​onStatus>
65094 ········​</​DisorderGeneAssociati​on>
64810 ······​</​DisorderGeneAssociati​onList>65095 ······​</​DisorderGeneAssociati​onList>
64811 ····​</​Disorder>65096 ····​</​Disorder>
64812 ····​<Disorder·​id="18015">65097 ····​<Disorder·​id="18015">
66112 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>66397 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
66113 ············​</​GeneType>66398 ············​</​GeneType>
66114 ············​<ExternalReferenceLis​t·​count="5">66399 ············​<ExternalReferenceLis​t·​count="5">
66115 ··············​<ExternalReference·​id="57596">66400 ··············​<ExternalReference·​id="195912">
66116 ················​<Source>Ensembl</​Source>66401 ················​<Source>Ensembl</​Source>
66117 ················​<Reference>ENSG000001​45075</​Reference>66402 ················​<Reference>ENSG000002​84862</​Reference>
66118 ··············​</​ExternalReference>66403 ··············​</​ExternalReference>
66119 ··············​<ExternalReference·​id="49868">66404 ··············​<ExternalReference·​id="49868">
66120 ················​<Source>Genatlas</​Source>66405 ················​<Source>Genatlas</​Source>
66134 ··············​</​ExternalReference>66419 ··············​</​ExternalReference>
66135 ············​</​ExternalReferenceList​>66420 ············​</​ExternalReferenceList​>
66136 ············​<LocusList·​count="1">66421 ············​<LocusList·​count="1">
66137 ··············​<Locus·​id="11283">66422 ··············​<Locus·​id="71543">
66138 ················​<GeneLocus>3q26.​33</​GeneLocus>66423 ················​<GeneLocus>3q26.​33</​GeneLocus>
66139 ················​<LocusKey>1</​LocusKey>66424 ················​<LocusKey>1</​LocusKey>
66140 ··············​</​Locus>66425 ··············​</​Locus>
72801 ··············​</​ExternalReference>73086 ··············​</​ExternalReference>
72802 ············​</​ExternalReferenceList​>73087 ············​</​ExternalReferenceList​>
72803 ············​<LocusList·​count="1">73088 ············​<LocusList·​count="1">
72804 ··············​<Locus·​id="61525">73089 ··············​<Locus·​id="78095">
72805 ················​<GeneLocus>6p21.​32</​GeneLocus>73090 ················​<GeneLocus>6p21.​32</​GeneLocus>
72806 ················​<LocusKey>1</​LocusKey>73091 ················​<LocusKey>1</​LocusKey>
72807 ··············​</​Locus>73092 ··············​</​Locus>
74471 ··············​</​ExternalReference>74756 ··············​</​ExternalReference>
74472 ············​</​ExternalReferenceList​>74757 ············​</​ExternalReferenceList​>
74473 ············​<LocusList·​count="1">74758 ············​<LocusList·​count="1">
74474 ··············​<Locus·​id="62345">74759 ··············​<Locus·​id="78481">
74475 ················​<GeneLocus>11q25</​GeneLocus>74760 ················​<GeneLocus>11q25</​GeneLocus>
74476 ················​<LocusKey>1</​LocusKey>74761 ················​<LocusKey>1</​LocusKey>
74477 ··············​</​Locus>74762 ··············​</​Locus>
85371 ··············​</​ExternalReference>85656 ··············​</​ExternalReference>
85372 ············​</​ExternalReferenceList​>85657 ············​</​ExternalReferenceList​>
85373 ············​<LocusList·​count="1">85658 ············​<LocusList·​count="1">
85374 ··············​<Locus·​id="69245">85659 ··············​<Locus·​id="79843">
85375 ················​<GeneLocus>5q31.​1</​GeneLocus>85660 ················​<GeneLocus>5q31.​1</​GeneLocus>
85376 ················​<LocusKey>1</​LocusKey>85661 ················​<LocusKey>1</​LocusKey>
85377 ··············​</​Locus>85662 ··············​</​Locus>
92202 ············​<SynonymList·​count="1">92487 ············​<SynonymList·​count="1">
92203 ··············​<Synonym·​lang="en">FLJ14199</​Synonym>92488 ··············​<Synonym·​lang="en">FLJ14199</​Synonym>
92204 ············​</​SynonymList>92489 ············​</​SynonymList>
92205 ············​<GeneType·​id="25993">92490 ············​<GeneType·​id="26046">
92206 ··············​<Name·​lang="en">gene·with·protein·product</​Name>92491 ··············​<Name·​lang="en">Non-​coding·RNA</​Name>
92207 ············​</​GeneType>92492 ············​</​GeneType>
92208 ············​<ExternalReferenceLis​t·​count="5">92493 ············​<ExternalReferenceLis​t·​count="5">
92209 ··············​<ExternalReference·​id="83666">92494 ··············​<ExternalReference·​id="83666">
94422 ··············​</​ExternalReference>94707 ··············​</​ExternalReference>
94423 ············​</​ExternalReferenceList​>94708 ············​</​ExternalReferenceList​>
94424 ············​<LocusList·​count="1">94709 ············​<LocusList·​count="1">
94425 ··············​<Locus·​id="63061">94710 ··············​<Locus·​id="78785">
94426 ················​<GeneLocus>22q13.​1</​GeneLocus>94711 ················​<GeneLocus>22q13.​1</​GeneLocus>
94427 ················​<LocusKey>1</​LocusKey>94712 ················​<LocusKey>1</​LocusKey>
94428 ··············​</​Locus>94713 ··············​</​Locus>
98263 ··············​</​ExternalReference>98548 ··············​</​ExternalReference>
98264 ············​</​ExternalReferenceList​>98549 ············​</​ExternalReferenceList​>
98265 ············​<LocusList·​count="1">98550 ············​<LocusList·​count="1">
98266 ··············​<Locus·​id="61887">98551 ··············​<Locus·​id="78273">
98267 ················​<GeneLocus>16p13.​3</​GeneLocus>98552 ················​<GeneLocus>16p13.​3</​GeneLocus>
98268 ················​<LocusKey>1</​LocusKey>98553 ················​<LocusKey>1</​LocusKey>
98269 ··············​</​Locus>98554 ··············​</​Locus>
102140 ··············​</​ExternalReference>102425 ··············​</​ExternalReference>
102141 ············​</​ExternalReferenceList​>102426 ············​</​ExternalReferenceList​>
102142 ············​<LocusList·​count="1">102427 ············​<LocusList·​count="1">
102143 ··············​<Locus·​id="60705">102428 ··············​<Locus·​id="77825">
102144 ················​<GeneLocus>7q22.​1</​GeneLocus>102429 ················​<GeneLocus>7q22.​1</​GeneLocus>
102145 ················​<LocusKey>1</​LocusKey>102430 ················​<LocusKey>1</​LocusKey>
102146 ··············​</​Locus>102431 ··············​</​Locus>
106292 ··············​</​ExternalReference>106577 ··············​</​ExternalReference>
106293 ············​</​ExternalReferenceList​>106578 ············​</​ExternalReferenceList​>
106294 ············​<LocusList·​count="1">106579 ············​<LocusList·​count="1">
106295 ··············​<Locus·​id="60705">106580 ··············​<Locus·​id="77825">
106296 ················​<GeneLocus>7q22.​1</​GeneLocus>106581 ················​<GeneLocus>7q22.​1</​GeneLocus>
106297 ················​<LocusKey>1</​LocusKey>106582 ················​<LocusKey>1</​LocusKey>
106298 ··············​</​Locus>106583 ··············​</​Locus>
109099 ············​<GeneType·​id="25993">109384 ············​<GeneType·​id="25993">
109100 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>109385 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
109101 ············​</​GeneType>109386 ············​</​GeneType>
109102 ············​<ExternalReferenceLis​t·​count="5">109387 ············​<ExternalReferenceLis​t·​count="6">
109388 ··············​<ExternalReference·​id="194394">
109389 ················​<Source>IUPHAR</​Source>
109390 ················​<Reference>3180</​Reference>
109391 ··············​</​ExternalReference>
109103 ··············​<ExternalReference·​id="95158">109392 ··············​<ExternalReference·​id="95158">
109104 ················​<Source>Genatlas</​Source>109393 ················​<Source>Genatlas</​Source>
109105 ················​<Reference>LONP1</​Reference>109394 ················​<Reference>LONP1</​Reference>
109122 ··············​</​ExternalReference>109411 ··············​</​ExternalReference>
109123 ············​</​ExternalReferenceList​>109412 ············​</​ExternalReferenceList​>
109124 ············​<LocusList·​count="1">109413 ············​<LocusList·​count="1">
109125 ··············​<Locus·​id="14405">109414 ··············​<Locus·​id="69431">
109126 ················​<GeneLocus>19p13.​2</​GeneLocus>109415 ················​<GeneLocus>19p13.​2</​GeneLocus>
109127 ················​<LocusKey>1</​LocusKey>109416 ················​<LocusKey>1</​LocusKey>
109128 ··············​</​Locus>109417 ··············​</​Locus>
115988 ··············​</​ExternalReference>116277 ··············​</​ExternalReference>
115989 ············​</​ExternalReferenceList​>116278 ············​</​ExternalReferenceList​>
115990 ············​<LocusList·​count="1">116279 ············​<LocusList·​count="1">
115991 ··············​<Locus·​id="62945">116280 ··············​<Locus·​id="78747">
115992 ················​<GeneLocus>1p36.​33</​GeneLocus>116281 ················​<GeneLocus>1p36.​33</​GeneLocus>
115993 ················​<LocusKey>1</​LocusKey>116282 ················​<LocusKey>1</​LocusKey>
115994 ··············​</​Locus>116283 ··············​</​Locus>
116026 ··············​</​ExternalReference>116315 ··············​</​ExternalReference>
116027 ············​</​ExternalReferenceList​>116316 ············​</​ExternalReferenceList​>
116028 ············​<LocusList·​count="1">116317 ············​<LocusList·​count="1">
116029 ··············​<Locus·​id="62949">116318 ··············​<Locus·​id="78749">
116030 ················​<GeneLocus>1p36.​22</​GeneLocus>116319 ················​<GeneLocus>1p36.​22</​GeneLocus>
116031 ················​<LocusKey>1</​LocusKey>116320 ················​<LocusKey>1</​LocusKey>
116032 ··············​</​Locus>116321 ··············​</​Locus>
116068 ··············​</​ExternalReference>116357 ··············​</​ExternalReference>
116069 ············​</​ExternalReferenceList​>116358 ············​</​ExternalReferenceList​>
116070 ············​<LocusList·​count="1">116359 ············​<LocusList·​count="1">
116071 ··············​<Locus·​id="62923">116360 ··············​<Locus·​id="78739">
116072 ················​<GeneLocus>1p36.​33</​GeneLocus>116361 ················​<GeneLocus>1p36.​33</​GeneLocus>
116073 ················​<LocusKey>1</​LocusKey>116362 ················​<LocusKey>1</​LocusKey>
116074 ··············​</​Locus>116363 ··············​</​Locus>
116326 ··············​</​ExternalReference>116615 ··············​</​ExternalReference>
116327 ············​</​ExternalReferenceList​>116616 ············​</​ExternalReferenceList​>
116328 ············​<LocusList·​count="1">116617 ············​<LocusList·​count="1">
116329 ··············​<Locus·​id="62561">116618 ··············​<Locus·​id="78589">
116330 ················​<GeneLocus>1p36.​22</​GeneLocus>116619 ················​<GeneLocus>1p36.​22</​GeneLocus>
116331 ················​<LocusKey>1</​LocusKey>116620 ················​<LocusKey>1</​LocusKey>
116332 ··············​</​Locus>116621 ··············​</​Locus>
116372 ··············​</​ExternalReference>116661 ··············​</​ExternalReference>
116373 ············​</​ExternalReferenceList​>116662 ············​</​ExternalReferenceList​>
116374 ············​<LocusList·​count="1">116663 ············​<LocusList·​count="1">
116375 ··············​<Locus·​id="61969">116664 ··············​<Locus·​id="78311">
116376 ················​<GeneLocus>1p36.​21-​p36.​13</​GeneLocus>116665 ················​<GeneLocus>1p36.​21-​p36.​13</​GeneLocus>
116377 ················​<LocusKey>1</​LocusKey>116666 ················​<LocusKey>1</​LocusKey>
116378 ··············​</​Locus>116667 ··············​</​Locus>
116410 ··············​</​ExternalReference>116699 ··············​</​ExternalReference>
116411 ············​</​ExternalReferenceList​>116700 ············​</​ExternalReferenceList​>
116412 ············​<LocusList·​count="1">116701 ············​<LocusList·​count="1">
116413 ··············​<Locus·​id="62929">116702 ··············​<Locus·​id="78741">
116414 ················​<GeneLocus>1p36.​21</​GeneLocus>116703 ················​<GeneLocus>1p36.​21</​GeneLocus>
116415 ················​<LocusKey>1</​LocusKey>116704 ················​<LocusKey>1</​LocusKey>
116416 ··············​</​Locus>116705 ··············​</​Locus>
116448 ··············​</​ExternalReference>116737 ··············​</​ExternalReference>
116449 ············​</​ExternalReferenceList​>116738 ············​</​ExternalReferenceList​>
116450 ············​<LocusList·​count="1">116739 ············​<LocusList·​count="1">
116451 ··············​<Locus·​id="62935">116740 ··············​<Locus·​id="78743">
116452 ················​<GeneLocus>1p36.​12</​GeneLocus>116741 ················​<GeneLocus>1p36.​12</​GeneLocus>
116453 ················​<LocusKey>1</​LocusKey>116742 ················​<LocusKey>1</​LocusKey>
116454 ··············​</​Locus>116743 ··············​</​Locus>
121265 ········​<DisorderGeneAssociat​ion>121554 ········​<DisorderGeneAssociat​ion>
121266 ··········​<SourceOfValidation>2​9265708[PMID]</​SourceOfValidation>121555 ··········​<SourceOfValidation>2​9265708[PMID]</​SourceOfValidation>
121267 ··········​<Gene·​id="20137">121556 ··········​<Gene·​id="20137">
121268 ············​<Name·​lang="en">RNA,​·​U4atac·​small·​nuclear·​(U12-​dependent·​splicing)​</​Name>121557 ············​<Name·​lang="en">'RNA,​·​U4atac·​small·​nuclear·​(U12-​dependent·​splicing)​'</​Name>
121269 ············​<Symbol>RNU4ATAC</​Symbol>121558 ············​<Symbol>RNU4ATAC</​Symbol>
121270 ············​<SynonymList·​count="2">121559 ············​<SynonymList·​count="2">
121271 ··············​<Synonym·​lang="en">RNU4ATAC1</​Synonym>121560 ··············​<Synonym·​lang="en">RNU4ATAC1</​Synonym>
132246 ··············​</​ExternalReference>132535 ··············​</​ExternalReference>
132247 ············​</​ExternalReferenceList​>132536 ············​</​ExternalReferenceList​>
132248 ············​<LocusList·​count="1">132537 ············​<LocusList·​count="1">
132249 ··············​<Locus·​id="63055">132538 ··············​<Locus·​id="78783">
132250 ················​<GeneLocus>2q31.​1</​GeneLocus>132539 ················​<GeneLocus>2q31.​1</​GeneLocus>
132251 ················​<LocusKey>1</​LocusKey>132540 ················​<LocusKey>1</​LocusKey>
132252 ··············​</​Locus>132541 ··············​</​Locus>
145214 ··············​</​ExternalReference>145503 ··············​</​ExternalReference>
145215 ············​</​ExternalReferenceList​>145504 ············​</​ExternalReferenceList​>
145216 ············​<LocusList·​count="1">145505 ············​<LocusList·​count="1">
145217 ··············​<Locus·​id="62089">145506 ··············​<Locus·​id="78363">
145218 ················​<GeneLocus>19p13.​3</​GeneLocus>145507 ················​<GeneLocus>19p13.​3</​GeneLocus>
145219 ················​<LocusKey>1</​LocusKey>145508 ················​<LocusKey>1</​LocusKey>
145220 ··············​</​Locus>145509 ··············​</​Locus>
159988 ········​<DisorderGeneAssociat​ion>160277 ········​<DisorderGeneAssociat​ion>
159989 ··········​<SourceOfValidation>2​1815888[PMID]_2379436​1[PMID]</​SourceOfValidation>160278 ··········​<SourceOfValidation>2​1815888[PMID]_2379436​1[PMID]</​SourceOfValidation>
159990 ··········​<Gene·​id="20137">160279 ··········​<Gene·​id="20137">
159991 ············​<Name·​lang="en">RNA,​·​U4atac·​small·​nuclear·​(U12-​dependent·​splicing)​</​Name>160280 ············​<Name·​lang="en">'RNA,​·​U4atac·​small·​nuclear·​(U12-​dependent·​splicing)​'</​Name>
159992 ············​<Symbol>RNU4ATAC</​Symbol>160281 ············​<Symbol>RNU4ATAC</​Symbol>
159993 ············​<SynonymList·​count="2">160282 ············​<SynonymList·​count="2">
159994 ··············​<Synonym·​lang="en">RNU4ATAC1</​Synonym>160283 ··············​<Synonym·​lang="en">RNU4ATAC1</​Synonym>
176725 ··············​</​ExternalReference>177014 ··············​</​ExternalReference>
176726 ············​</​ExternalReferenceList​>177015 ············​</​ExternalReferenceList​>
176727 ············​<LocusList·​count="1">177016 ············​<LocusList·​count="1">
176728 ··············​<Locus·​id="62405">177017 ··············​<Locus·​id="78515">
176729 ················​<GeneLocus>3p22.​3</​GeneLocus>177018 ················​<GeneLocus>3p22.​3</​GeneLocus>
176730 ················​<LocusKey>1</​LocusKey>177019 ················​<LocusKey>1</​LocusKey>
176731 ··············​</​Locus>177020 ··············​</​Locus>
195416 ······​<DisorderGroup·​id="36547">195705 ······​<DisorderGroup·​id="36547">
195417 ········​<Name·​lang="en">Disorder</​Name>195706 ········​<Name·​lang="en">Disorder</​Name>
195418 ······​</​DisorderGroup>195707 ······​</​DisorderGroup>
195419 ······​<DisorderGeneAssociat​ionList·​count="22">195708 ······​<DisorderGeneAssociat​ionList·​count="25">
195420 ········​<DisorderGeneAssociat​ion>195709 ········​<DisorderGeneAssociat​ion>
195421 ··········​<SourceOfValidation>2​0301537[PMID]</​SourceOfValidation>195710 ··········​<SourceOfValidation>2​0301537[PMID]</​SourceOfValidation>
195422 ··········​<Gene·​id="15352">195711 ··········​<Gene·​id="15352">
196525 ············​<Name·​lang="en">Assessed</​Name>196814 ············​<Name·​lang="en">Assessed</​Name>
196526 ··········​</​DisorderGeneAssociati​onStatus>196815 ··········​</​DisorderGeneAssociati​onStatus>
196527 ········​</​DisorderGeneAssociati​on>196816 ········​</​DisorderGeneAssociati​on>
196817 ········​<DisorderGeneAssociat​ion>
196818 ··········​<SourceOfValidation>2​7486776[PMID]</​SourceOfValidation>
196819 ··········​<Gene·​id="24615">
196820 ············​<Name·​lang="en">intraflagel​lar·​transport·​74</​Name>
196821 ············​<Symbol>IFT74</​Symbol>
196822 ············​<SynonymList·​count="4">
196823 ··············​<Synonym·​lang="en">CMG-​1</​Synonym>
196824 ··············​<Synonym·​lang="en">CMG1</​Synonym>
196825 ··············​<Synonym·​lang="en">FLJ22621</​Synonym>
196826 ··············​<Synonym·​lang="en">capillary·​morphogenesis·​protein·​1</​Synonym>
196827 ············​</​SynonymList>
196828 ············​<GeneType·​id="25993">
196829 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
196830 ············​</​GeneType>
196831 ············​<ExternalReferenceLis​t·​count="6">
196832 ··············​<ExternalReference·​id="131432">
196833 ················​<Source>HGNC</​Source>
196834 ················​<Reference>21424</​Reference>
196835 ··············​</​ExternalReference>
196836 ··············​<ExternalReference·​id="134350">
196837 ················​<Source>Reactome</​Source>
196838 ················​<Reference>Q96LB3</​Reference>
196839 ··············​</​ExternalReference>
196840 ··············​<ExternalReference·​id="143407">
196841 ················​<Source>Genatlas</​Source>
196842 ················​<Reference>IFT74</​Reference>
196843 ··············​</​ExternalReference>
196844 ··············​<ExternalReference·​id="134093">
196845 ················​<Source>Ensembl</​Source>
196846 ················​<Reference>ENSG000000​96872</​Reference>
196847 ··············​</​ExternalReference>
196848 ··············​<ExternalReference·​id="132166">
196849 ················​<Source>OMIM</​Source>
196850 ················​<Reference>608040</​Reference>
196851 ··············​</​ExternalReference>
196852 ··············​<ExternalReference·​id="132890">
196853 ················​<Source>SwissProt</​Source>
196854 ················​<Reference>Q96LB3</​Reference>
196855 ··············​</​ExternalReference>
196856 ············​</​ExternalReferenceList​>
196857 ············​<LocusList·​count="1">
196858 ··············​<Locus·​id="38517">
196859 ················​<GeneLocus>9p21.​2</​GeneLocus>
196860 ················​<LocusKey>1</​LocusKey>
196861 ··············​</​Locus>
196862 ············​</​LocusList>
196863 ··········​</​Gene>
196864 ··········​<DisorderGeneAssociat​ionType·​id="25972">
196865 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​(loss·​of·​function)​·​in</​Name>
196866 ··········​</​DisorderGeneAssociati​onType>
196867 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
196868 ············​<Name·​lang="en">Assessed</​Name>
196869 ··········​</​DisorderGeneAssociati​onStatus>
196870 ········​</​DisorderGeneAssociati​on>
196871 ········​<DisorderGeneAssociat​ion>
196872 ··········​<SourceOfValidation>2​9127258[PMID]</​SourceOfValidation>
196873 ··········​<Gene·​id="22806">
196874 ············​<Name·​lang="en">centrosomal​·​protein·​19</​Name>
196875 ············​<Symbol>CEP19</​Symbol>
196876 ············​<SynonymList·​count="1">
196877 ··············​<Synonym·​lang="en">MGC14126</​Synonym>
196878 ············​</​SynonymList>
196879 ············​<GeneType·​id="25993">
196880 ··············​<Name·​lang="en">gene·​with·​protein·​product</​Name>
196881 ············​</​GeneType>
196882