| 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/Genes | b/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&Expert=166024</ExpertLink> | 13 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&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 | ············<ExternalReferenceList·count="1"> | 3721 | ············<ExternalReferenceList·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>ENSG00000170956</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 | ············<ExternalReferenceList·count="1"> | 3759 | ············<ExternalReferenceList·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>ENSG00000086548</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 | ············<ExternalReferenceList·count="1"> | 3854 | ············<ExternalReferenceList·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>ENSG00000134202</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 | ············<ExternalReferenceList·count="2"> | 5288 | ············<ExternalReferenceList·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 | ······<DisorderGeneAssociationList·count="5"> | 40425 | ······<DisorderGeneAssociationList·count="4"> |
| 40402 | ········<DisorderGeneAssociation> | 40426 | ········<DisorderGeneAssociation> |
| 40403 | ··········<SourceOfValidation>28213671[PMID]</SourceOfValidation> | 40427 | ··········<SourceOfValidation>28213671[PMID]</SourceOfValidation> |
| 40404 | ··········<Gene·id="23144"> | 40428 | ··········<Gene·id="23144"> |
| ⋮ | ⋮ |
| 40506 | ············<Name·lang="en">Assessed</Name> | 40530 | ············<Name·lang="en">Assessed</Name> |
| 40507 | ··········</DisorderGeneAssociationStatus> | 40531 | ··········</DisorderGeneAssociationStatus> |
| 40508 | ········</DisorderGeneAssociation> | 40532 | ········</DisorderGeneAssociation> |
| 40509 | ········<DisorderGeneAssociation> | |
| 40510 | ··········<SourceOfValidation>22578325[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">DKFZP434A139</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 | ············<ExternalReferenceList·count="6"> | |
| 40524 | ··············<ExternalReference·id="57227"> | |
| 40525 | ················<Source>Ensembl</Source> | |
| 40526 | ················<Reference>ENSG00000108557</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 | ··········<DisorderGeneAssociationType·id="17985"> | |
| 40557 | ············<Name·lang="en">Role·in·the·phenotype·of</Name> | |
| 40558 | ··········</DisorderGeneAssociationType> | |
| 40559 | ··········<DisorderGeneAssociationStatus·id="17991"> | |
| 40560 | ············<Name·lang="en">Assessed</Name> | |
| 40561 | ··········</DisorderGeneAssociationStatus> | |
| 40562 | ········</DisorderGeneAssociation> | |
| 40563 | ········<DisorderGeneAssociation> | 40533 | ········<DisorderGeneAssociation> |
| 40564 | ··········<SourceOfValidation>9177775[PMID]_7825574[PMID]_15690371[PMID]</SourceOfValidation> | 40534 | ··········<SourceOfValidation>9177775[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 | ······<DisorderGeneAssociationList·count="8"> | 64355 | ······<DisorderGeneAssociationList·count="14"> |
| 64386 | ········<DisorderGeneAssociation> | 64356 | ········<DisorderGeneAssociation> |
| 64387 | ··········<SourceOfValidation>20301612[PMID]</SourceOfValidation> | 64357 | ··········<SourceOfValidation>33151932[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 | ············<ExternalReferenceList·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>ENSG00000165240</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 64406 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 64407 | ··········</DisorderGeneAssociationType> |
| | 64408 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 64409 | ············<Name·lang="en">Assessed</Name> |
| | 64410 | ··········</DisorderGeneAssociationStatus> |
| | 64411 | ········</DisorderGeneAssociation> |
| | 64412 | ········<DisorderGeneAssociation> |
| | 64413 | ··········<SourceOfValidation>33151932[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">adrenoleukodystrophy</Synonym> |
| | 64421 | ············</SynonymList> |
| | 64422 | ············<GeneType·id="25993"> |
| | 64423 | ··············<Name·lang="en">gene·with·protein·product</Name> |
| | 64424 | ············</GeneType> |
| | 64425 | ············<ExternalReferenceList·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>ENSG00000101986</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 64463 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 64464 | ··········</DisorderGeneAssociationType> |
| | 64465 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 64466 | ············<Name·lang="en">Assessed</Name> |
| | 64467 | ··········</DisorderGeneAssociationStatus> |
| | 64468 | ········</DisorderGeneAssociation> |
| | 64469 | ········<DisorderGeneAssociation> |
| | 64470 | ··········<SourceOfValidation>33497358[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 | ············<ExternalReferenceList·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>ENSG00000141736</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 64515 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 64516 | ··········</DisorderGeneAssociationType> |
| | 64517 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 64518 | ············<Name·lang="en">Assessed</Name> |
| | 64519 | ··········</DisorderGeneAssociationStatus> |
| | 64520 | ········</DisorderGeneAssociation> |
| | 64521 | ········<DisorderGeneAssociation> |
| | 64522 | ··········<SourceOfValidation>33497358[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 | ············<ExternalReferenceList·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>ENSG00000065361</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 64571 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 64572 | ··········</DisorderGeneAssociationType> |
| | 64573 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 64574 | ············<Name·lang="en">Assessed</Name> |
| | 64575 | ··········</DisorderGeneAssociationStatus> |
| | 64576 | ········</DisorderGeneAssociation> |
| | 64577 | ········<DisorderGeneAssociation> |
| | 64578 | ··········<SourceOfValidation>32413283[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 | ············<ExternalReferenceList·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>ENSG00000128602</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 64627 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 64628 | ··········</DisorderGeneAssociationType> |
| | 64629 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 64630 | ············<Name·lang="en">Assessed</Name> |
| | 64631 | ··········</DisorderGeneAssociationStatus> |
| | 64632 | ········</DisorderGeneAssociation> |
| | 64633 | ········<DisorderGeneAssociation> |
| | 64634 | ··········<SourceOfValidation>31609069[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 | ··········<DisorderGeneAssociationType·id="17961"> | 64687 | ··········<DisorderGeneAssociationType·id="17949"> |
| 64441 | ············<Name·lang="en">Major·susceptibility·factor·in</Name> | 64688 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| 64442 | ··········</DisorderGeneAssociationType> | 64689 | ··········</DisorderGeneAssociationType> |
| 64443 | ··········<DisorderGeneAssociationStatus·id="17991"> | 64690 | ··········<DisorderGeneAssociationStatus·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 | ··········</DisorderGeneAssociationStatus> | 65055 | ··········</DisorderGeneAssociationStatus> |
| 64809 | ········</DisorderGeneAssociation> | 65056 | ········</DisorderGeneAssociation> |
| | 65057 | ········<DisorderGeneAssociation> |
| | 65058 | ··········<SourceOfValidation>33151932[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 | ············<ExternalReferenceList·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>ENSG00000072310</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 | ··········<DisorderGeneAssociationType·id="17949"> |
| | 65089 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> |
| | 65090 | ··········</DisorderGeneAssociationType> |
| | 65091 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 65092 | ············<Name·lang="en">Assessed</Name> |
| | 65093 | ··········</DisorderGeneAssociationStatus> |
| | 65094 | ········</DisorderGeneAssociation> |
| 64810 | ······</DisorderGeneAssociationList> | 65095 | ······</DisorderGeneAssociationList> |
| 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 | ············<ExternalReferenceList·count="5"> | 66399 | ············<ExternalReferenceList·count="5"> |
| 66115 | ··············<ExternalReference·id="57596"> | 66400 | ··············<ExternalReference·id="195912"> |
| 66116 | ················<Source>Ensembl</Source> | 66401 | ················<Source>Ensembl</Source> |
| 66117 | ················<Reference>ENSG00000145075</Reference> | 66402 | ················<Reference>ENSG00000284862</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 | ············<ExternalReferenceList·count="5"> | 92493 | ············<ExternalReferenceList·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 | ············<ExternalReferenceList·count="5"> | 109387 | ············<ExternalReferenceList·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 | ········<DisorderGeneAssociation> | 121554 | ········<DisorderGeneAssociation> |
| 121266 | ··········<SourceOfValidation>29265708[PMID]</SourceOfValidation> | 121555 | ··········<SourceOfValidation>29265708[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 | ········<DisorderGeneAssociation> | 160277 | ········<DisorderGeneAssociation> |
| 159989 | ··········<SourceOfValidation>21815888[PMID]_23794361[PMID]</SourceOfValidation> | 160278 | ··········<SourceOfValidation>21815888[PMID]_23794361[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 | ······<DisorderGeneAssociationList·count="22"> | 195708 | ······<DisorderGeneAssociationList·count="25"> |
| 195420 | ········<DisorderGeneAssociation> | 195709 | ········<DisorderGeneAssociation> |
| 195421 | ··········<SourceOfValidation>20301537[PMID]</SourceOfValidation> | 195710 | ··········<SourceOfValidation>20301537[PMID]</SourceOfValidation> |
| 195422 | ··········<Gene·id="15352"> | 195711 | ··········<Gene·id="15352"> |
| ⋮ | ⋮ |
| 196525 | ············<Name·lang="en">Assessed</Name> | 196814 | ············<Name·lang="en">Assessed</Name> |
| 196526 | ··········</DisorderGeneAssociationStatus> | 196815 | ··········</DisorderGeneAssociationStatus> |
| 196527 | ········</DisorderGeneAssociation> | 196816 | ········</DisorderGeneAssociation> |
| | 196817 | ········<DisorderGeneAssociation> |
| | 196818 | ··········<SourceOfValidation>27486776[PMID]</SourceOfValidation> |
| | 196819 | ··········<Gene·id="24615"> |
| | 196820 | ············<Name·lang="en">intraflagellar·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 | ············<ExternalReferenceList·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>ENSG00000096872</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 | ··········<DisorderGeneAssociationType·id="25972"> |
| | 196865 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·(loss·of·function)·in</Name> |
| | 196866 | ··········</DisorderGeneAssociationType> |
| | 196867 | ··········<DisorderGeneAssociationStatus·id="17991"> |
| | 196868 | ············<Name·lang="en">Assessed</Name> |
| | 196869 | ··········</DisorderGeneAssociationStatus> |
| | 196870 | ········</DisorderGeneAssociation> |
| | 196871 | ········<DisorderGeneAssociation> |
| | 196872 | ··········<SourceOfValidation>29127258[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 |