IKBKG(inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma) 转至新版数据库

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

Xq28
基因染色体位置图

基因简述

基因简述

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011]

[中文简述(自动翻译):]  这个基因编码κB的激酶（IKK）复合体抑制剂，激活的NF-κB的导致参与炎症，免疫，细胞存活，和其它途径的基因的活化的调节亚基。突变这个基因导致色素失禁症，少汗型外胚层发育不良，以及其他几种类型的免疫缺陷的。已发现该基因编码不同亚型的多个抄本变形。高度相似，该位点假基因位于X染色体的相邻区域。 [由RefSeq的，2011年8月提供]

OMIM数据库中对IKBKG基因的介绍     Wikipedia数据库中对IKBKG基因的介绍

基因序列

基因序列

IKBKG基因的碱基序列：[NCBI]

基因突变

基因突变

IKBKG基因的碱基突变：           显示全部snp
rs782813189       rs782816286       rs782803636       rs782795856       rs782793809       rs782780287       rs782761164       rs782738025       rs782717047       rs782717762       rs782712772       rs782704401       rs782687795       rs782663126       rs782678264       rs782655513       rs782644407       rs782620228       rs782604431       rs782606902       rs782594565       rs782592077       rs782576988       rs782584848       rs782540330       rs782533747       rs782517338       rs782522626       rs782515018       rs782487188       rs782481870       rs782478382       rs782470989       rs782464131       rs782454227       rs782455868       rs782449420      
rs782425281       rs782406063       rs782418204       rs782405041       rs782382377       rs782374349       rs782355825       rs782369119       rs782348496       rs782344532       rs782335701       rs782333244       rs782297181       rs782327380       rs782276373       rs782265806       rs782236286       rs782221780       rs782189656       rs782189072       rs782188931       rs782183131       rs782173858       rs782178147       rs782169876       rs782167422       rs782159409       rs782141440       rs782151311       rs782121417       rs782113256       rs782098796       rs782111993       rs782087958       rs782081482       rs782052896       rs782069646       rs782030098       rs782039548       rs782002060       rs781994998       rs781985461       rs781971680       rs781935459       rs781951492       rs781932378       rs781926607       rs781914927       rs781899866       rs781899339       rs781881888       rs781861418       rs781860405       rs781840213       rs781827676       rs781828944       rs781823529       rs781818077       rs386134237       rs377608926       rs376019792       rs377406996       rs374777714       rs371203594       rs201709278       rs370722255       rs192977734       rs192953898       rs191566800       rs191405775       rs191026808       rs189875486       rs189428004       rs189071051       rs188694806       rs187063940       rs186655160       rs184987535       rs184541622       rs184311247       rs183678172       rs182406987       rs182403705       rs181393437       rs181159910       rs150358028       rs149511938       rs148695964       rs148924418       rs148118581       rs146713404       rs143999678       rs145722968       rs143636168       rs143379366       rs142579132       rs137853322       rs140446617       rs76866072       rs77108259       rs113807442       rs73641105       rs57174646       rs12861291       rs6643680       rs5986993       rs782820705       rs782806405       rs782806127       rs782795806       rs782789442       rs782786606       rs782786056       rs782777764       rs782776735       rs782774461       rs782767803       rs782763580       rs782758722       rs782747176       rs782736785       rs782735069       rs782724801       rs782721028       rs782713459       rs782700083       rs782686142       rs782672136       rs782671869       rs782671606       rs782670098       rs782663603       rs782663362       rs782659785       rs782644091       rs782643392       rs782642855       rs782639659       rs782633369       rs782631466       rs782627399       rs782625635       rs782614320       rs782609860       rs782606162       rs782602076       rs782600919       rs782595532       rs782589734       rs782577241       rs782575090       rs782573308       rs782564442       rs782562909       rs782555841       rs782545516       rs782539588       rs782535108       rs782525214       rs782519851       rs782518380       rs782518192       rs782494731       rs782493718       rs782487928       rs782481581       rs782481467       rs782479267       rs782473981       rs782473397       rs782458844       rs782457761       rs782441818       rs782438526       rs782436856       rs782426682       rs782425753       rs782415403       rs782413778       rs782413302       rs782409202       rs782407030       rs782400245       rs782396663       rs782395004       rs782393436       rs782393865       rs782387448       rs782375017       rs782367709       rs782367664       rs782367275       rs782364872       rs782357965       rs782344302       rs782337273       rs782330356       rs782326747       rs782325812       rs782323505       rs782318674       rs782318964       rs782316100       rs782313849       rs782307351       rs782306137       rs782301691       rs782297323       rs782291173       rs782285808       rs782280334       rs782279781       rs782279088       rs782274103       rs782270910       rs782268091       rs782257245       rs782253817       rs782248853       rs782242454       rs782240931       rs782232679       rs782230848       rs782224016       rs782213290       rs782212353       rs782210256       rs782206404       rs782203989       rs782201526       rs782199182       rs782179421       rs782175962       rs782173931       rs782162162       rs782151739       rs782150651       rs782147928       rs782147404       rs782142125       rs782141087       rs782139661       rs782137502       rs782130452       rs782121203       rs782107061       rs782104972       rs782096674       rs782091279       rs782089171       rs782074422       rs782071303       rs782061116       rs782060835       rs782059587       rs782057581       rs782052842       rs782046317       rs782038955       rs782037926       rs782032487       rs782030415       rs782024609       rs782023794       rs782006658       rs782004365       rs781999074       rs781995807       rs781995036       rs781994731       rs781993410       rs781989843       rs781983439       rs781966775       rs781960754       rs781952094       rs781941522       rs781945422       rs781940446       rs781937245       rs781921593       rs781917738       rs781903425       rs781892555       rs781888942       rs781885225       rs781880903       rs781876601       rs781867923       rs781861647       rs781861211       rs781856005       rs781845834       rs781843389       rs781843044       rs781842888       rs781841252       rs781837306       rs781835485       rs781836293       rs781823051       rs781809790       rs781801725       rs781800376       rs781797312       rs781795492       rs781792803       rs781791065       rs781784247       rs377747760       rs376364760       rs375586532       rs375150149       rs374748657       rs373355350       rs373174016       rs373126405       rs372710912       rs371858780       rs369904290       rs369777148       rs368857323       rs368832112       rs202220072       rs201535293       rs201460468       rs200481330       rs193062832       rs192791926       rs192649884       rs192370793       rs191938568       rs191860723       rs191266974       rs190769680       rs190327948       rs190165081       rs189531113       rs189237568       rs189201730       rs188962851       rs188793683       rs188320214       rs187365164       rs187341997       rs187223853       rs186668760       rs186172270       rs186165666       rs185886425       rs185623633       rs185486760       rs185343434       rs185162883       rs184623935       rs184345041       rs183986135       rs183785399       rs183758117       rs183753530       rs183383141       rs182957060       rs182430353       rs182157900       rs181963696       rs181932033       rs149902811       rs149618083       rs146051477       rs145036913       rs144918804       rs144228258       rs143277699       rs137852340       rs113881586       rs113796767       rs113492957       rs112022908       rs111827785       rs111615979       rs111267224       rs73641104       rs73641103       rs73573488       rs61309512       rs60738129       rs60589782       rs56262786       rs11797720       rs7066099       rs7064060       rs5986992       rs3021074       rs3021072       rs2515910       rs2515903       rs2472394       rs2472393       rs1050827      

基因表达

基因表达

IKBKG基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
ATCAAGAGCTCCGAGATGC
60
CATGAGGAACTCCTTCTCCTC
60
CGATAAGCTGAAGGAGGAG
57
CCTTGTAGATATCCGCCTG
57
CCTATCACCAGCTCTTCCA
59
TTGTAGATATCCGCTCGCT
58
TCGATAAGCTGAAGGAGGAG
59
TTGTAGATATCCGCCTGGG
59
AGAAGCTCGATCTGAAGAGG
59
GTAACCTGTGTCCTTTCCTG
58
ATCAAGAGCTCCGAGATGC
60
CATGAGGAACTCCTTCTCCTC
60
TAAGGAATGCCAGGCTCTG
60
CCAGCTTCCTCTTCTCCTC
59
GAGAAGCTCGATCTGAAGAG
58
GTAACCTGTGTCCTTTCCTG
58
AAGAGATGCCAGCAGATGG
60
CATTCCTTAGTGGCAGCCT
60
AGAATCAAGAGCTCCGAGG
59
TCGATCACCTCCTGTTTGG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

IKBKG基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

IKBKG基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005737
C9J2V2(UniProtKB)
IDA
GO:0005737
C9JCG6(UniProtKB)
IDA
GO:0005737
C9JN51(UniProtKB)
IDA
GO:0000151
Q9Y6K9(UniProtKB)
IPI
GO:0000187
Q9Y6K9(UniProtKB)
TAS
GO:0000922
Q9Y6K9(UniProtKB)
IDA
GO:0002223
Q9Y6K9(UniProtKB)
TAS
GO:0004871
Q9Y6K9(UniProtKB)
TAS
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005515
Q9Y6K9(UniProtKB)
IPI
GO:0005622
Q9Y6K9(UniProtKB)
IDA
GO:0005634
Q9Y6K9(UniProtKB)
IDA
GO:0005737
Q9Y6K9(UniProtKB)
IDA
GO:0005737
Q9Y6K9(UniProtKB)
IDA
GO:0005737
Q9Y6K9(UniProtKB)
IDA
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0005829
Q9Y6K9(UniProtKB)
TAS
GO:0006351
Q9Y6K9(UniProtKB)
IEA
GO:0006915
Q9Y6K9(UniProtKB)
TAS
GO:0006954
Q9Y6K9(UniProtKB)
TAS
GO:0006955
Q9Y6K9(UniProtKB)
TAS
GO:0006974
Q9Y6K9(UniProtKB)
IDA
GO:0007249
Q9Y6K9(UniProtKB)
TAS
GO:0007249
Q9Y6K9(UniProtKB)
TAS
GO:0007254
Q9Y6K9(UniProtKB)
TAS
GO:0008385
Q9Y6K9(UniProtKB)
TAS
GO:0008385
Q9Y6K9(UniProtKB)
IDA
GO:0009615
Q9Y6K9(UniProtKB)
TAS
GO:0010803
Q9Y6K9(UniProtKB)
TAS
GO:0016032
Q9Y6K9(UniProtKB)
IEA
GO:0019904
Q9Y6K9(UniProtKB)
IPI
GO:0031625
Q9Y6K9(UniProtKB)
IPI
GO:0035666
Q9Y6K9(UniProtKB)
TAS
GO:0038095
Q9Y6K9(UniProtKB)
TAS
GO:0042803
Q9Y6K9(UniProtKB)
IDA
GO:0042975
Q9Y6K9(UniProtKB)
IEA
GO:0043123
Q9Y6K9(UniProtKB)
IDA
GO:0043123
Q9Y6K9(UniProtKB)
TAS
GO:0045087
Q9Y6K9(UniProtKB)
TAS
GO:0045944
Q9Y6K9(UniProtKB)
IDA
GO:0046872
Q9Y6K9(UniProtKB)
IEA
GO:0046982
Q9Y6K9(UniProtKB)
IDA
GO:0050852
Q9Y6K9(UniProtKB)
NAS
GO:0050852
Q9Y6K9(UniProtKB)
TAS
GO:0050852
Q9Y6K9(UniProtKB)
TAS
GO:0051092
Q9Y6K9(UniProtKB)
IDA
GO:0051092
Q9Y6K9(UniProtKB)
TAS
GO:0051092
Q9Y6K9(UniProtKB)
TAS
GO:0051403
Q9Y6K9(UniProtKB)
TAS
GO:0051650
Q9Y6K9(UniProtKB)
IMP
GO:0070423
Q9Y6K9(UniProtKB)
TAS
GO:0070530
Q9Y6K9(UniProtKB)
IBA
GO:0072686
Q9Y6K9(UniProtKB)
IDA
GO:1901215
Q9Y6K9(UniProtKB)
TAS
GO:1990450
Q9Y6K9(UniProtKB)
IDA
GO:0008385
Q9Y6K9(UniProtKB)
TAS

基因相互作用关系

基因相互作用关系

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因相关microRNA

基因相关microRNA

可能调控IKBKG基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) 0.48 1 2 CLINVAR_CTD_human_ORPHANET_UNIPROT
Bloch Sulzberger syndrome 0.389646753 53 3 BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET
Ectodermal dysplasia, hypohidrotic, with immune deficiency 0.362985861 14 11 BeFree_CLINVAR_CTD_human_UNIPROT
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) 0.36 1 1 CLINVAR_CTD_human_UNIPROT
Immunodeficiency without anhidrotic ectodermal dysplasia 0.36 1 1 CLINVAR_CTD_human_UNIPROT
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 0.36 0 1 CLINVAR_CTD_human_ORPHANET
Incontinentia pigmenti, familial male-lethal type 0.333300652 50 3 BeFree_MGD_ORPHANET_UNIPROT
Lung Neoplasms 0.12 1 0 CTD_human
Non-alcoholic Fatty Liver Disease 0.12 1 0 CTD_human
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 0.08 0 0 MGD
Ectodermal Dysplasia 0.010887469 12 1 BeFree_LHGDN
Klinefelter Syndrome 0.00272435 1 0 LHGDN
Leukemia, Myelocytic, Acute 0.00272435 1 0 LHGDN
Christ-Siemens-Touraine syndrome 0.002714419 10 0 BeFree
Atherosclerosis 0.002367032 1 0 GAD
Anhydrotic Ectodermal Dysplasias 0.001357209 5 0 BeFree
Mycobacterium Infections 0.001085767 4 0 BeFree
Hyperimmunoglobulin M syndrome 0.000814326 3 0 BeFree
Herpes encephalitis 0.000814326 3 0 BeFree
Hyper-IgM Immunodeficiency Syndrome, Type 1 0.000814326 3 0 BeFree
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) 0.000814326 3 0 BeFree
Anhidrosis 0.000542884 2 0 BeFree
Malignant neoplasm of breast 0.000542884 2 0 BeFree
Hypodontia 0.000542884 2 0 BeFree
Immunologic Deficiency Syndromes 0.000542884 2 0 BeFree
Lymphedema 0.000542884 2 0 BeFree
Dermatologic disorders 0.000542884 2 0 BeFree
Primary immune deficiency disorder 0.000542884 2 0 BeFree
Combined immunodeficiency 0.000542884 2 0 BeFree
Breast Carcinoma 0.000542884 2 0 BeFree
Hepatocarcinogenesis 0.000542884 2 0 BeFree
Liver carcinoma 0.000542884 2 0 BeFree
Bacterial Infections 0.000271442 1 0 BeFree
Behcet Syndrome 0.000271442 1 0 BeFree
Developmental Disabilities 0.000271442 1 0 BeFree
Colitis 0.000271442 1 0 BeFree
Shigella Infections 0.000271442 1 0 BeFree
Hepatitis 0.000271442 1 0 BeFree
Hepatitis A 0.000271442 1 0 BeFree
Ischemia 0.000271442 1 0 BeFree
leukemia 0.000271442 1 0 BeFree
Myopathy 0.000271442 1 0 BeFree
Mycobacterium Infections, Nontuberculous 0.000271442 1 0 BeFree
Nephritis 0.000271442 1 0 BeFree
Respiratory Syncytial Virus Infections 0.000271442 1 0 BeFree
Tuberculosis 0.000271442 1 0 BeFree
Virus Diseases 0.000271442 1 0 BeFree
Acute leukemia 0.000271442 1 0 BeFree
Aicardi's syndrome 0.000271442 1 0 BeFree
Fibrosis, Liver 0.000271442 1 0 BeFree
Mucosa-Associated Lymphoid Tissue Lymphoma 0.000271442 1 0 BeFree
Tumor necrosis 0.000271442 1 0 BeFree
Immune thrombocytopenic purpura 0.000271442 1 0 BeFree
Abdominal symptom 0.000271442 1 0 BeFree
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 0.000271442 1 0 BeFree
Steatohepatitis 0.000271442 1 0 BeFree
NEMO mutation with immunodeficiency 0.000271442 1 0 BeFree

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