LYST (lysosomal trafficking regulator)

Gene

• Entrez ID: 1130
• Gene name: Lysosomal trafficking regulator
• Gene symbol: LYST
• Synonyms (NCBI Gene): CHS, CHS1, Mauve
• Disease Acronyms (UniProt): CHS
• Chromosome: 1
• Chromosome location: 1q42.3
• Summary: This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942077	A>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs34702903	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs77091385	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, missense variant, non coding transcript variant, genic downstream transcript variant, upstream transcript variant, coding sequence variant
rs80338642	->C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs80338643	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant, non coding transcript variant
rs80338644	C>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs80338646	T>-,TT	Pathogenic	Genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs80338649	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs80338651	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs80338652	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs80338657	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs80338667	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs115330112	A>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs145553827	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs148371004	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs150306354	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs199672291	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs557545474	AA>-,A,AAA,AAAA,AAAAA	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs748659198	C>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs754616030	G>A	Pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, stop gained
rs760108842	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, splice donor variant, intron variant, genic downstream transcript variant
rs864309530	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1131691428	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553283111	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1558282769	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017524	hsa-miR-335-5p	Microarray	18185580
MIRT028036	hsa-miR-93-5p	Sequencing	20371350
MIRT050104	hsa-miR-26a-5p	CLASH	23622248
MIRT044888	hsa-miR-193a-3p	CLASH	23622248
MIRT040614	hsa-miR-92b-3p	CLASH	23622248
MIRT1124265	hsa-miR-1183	CLIP-seq
MIRT1124266	hsa-miR-1278	CLIP-seq
MIRT1124267	hsa-miR-129-5p	CLIP-seq
MIRT1124268	hsa-miR-2053	CLIP-seq
MIRT1124269	hsa-miR-22	CLIP-seq
MIRT1124270	hsa-miR-30a	CLIP-seq
MIRT1124271	hsa-miR-30b	CLIP-seq
MIRT1124272	hsa-miR-30c	CLIP-seq
MIRT1124273	hsa-miR-30d	CLIP-seq
MIRT1124274	hsa-miR-30e	CLIP-seq
MIRT1124275	hsa-miR-3591-3p	CLIP-seq
MIRT1124276	hsa-miR-3607-3p	CLIP-seq
MIRT1124277	hsa-miR-3689a-5p	CLIP-seq
MIRT1124278	hsa-miR-3689b	CLIP-seq
MIRT1124279	hsa-miR-3689e	CLIP-seq
MIRT1124280	hsa-miR-3689f	CLIP-seq
MIRT1124281	hsa-miR-4305	CLIP-seq
MIRT1124282	hsa-miR-548a-5p	CLIP-seq
MIRT1124283	hsa-miR-548ab	CLIP-seq
MIRT1124284	hsa-miR-548ak	CLIP-seq
MIRT1124285	hsa-miR-548b-5p	CLIP-seq
MIRT1124286	hsa-miR-548c-5p	CLIP-seq
MIRT1124287	hsa-miR-548d-5p	CLIP-seq
MIRT1124288	hsa-miR-548h	CLIP-seq
MIRT1124289	hsa-miR-548i	CLIP-seq
MIRT1124290	hsa-miR-548j	CLIP-seq
MIRT1124291	hsa-miR-548k	CLIP-seq
MIRT1124292	hsa-miR-548l	CLIP-seq
MIRT1124293	hsa-miR-548n	CLIP-seq
MIRT1124294	hsa-miR-548w	CLIP-seq
MIRT1124295	hsa-miR-548y	CLIP-seq
MIRT1124296	hsa-miR-559	CLIP-seq
MIRT1124265	hsa-miR-1183	CLIP-seq
MIRT2035119	hsa-miR-1238	CLIP-seq
MIRT2035120	hsa-miR-1245b-3p	CLIP-seq
MIRT1124266	hsa-miR-1278	CLIP-seq
MIRT2035121	hsa-miR-1298	CLIP-seq
MIRT2035122	hsa-miR-216a	CLIP-seq
MIRT2035123	hsa-miR-216b	CLIP-seq
MIRT1124270	hsa-miR-30a	CLIP-seq
MIRT1124271	hsa-miR-30b	CLIP-seq
MIRT1124272	hsa-miR-30c	CLIP-seq
MIRT1124273	hsa-miR-30d	CLIP-seq
MIRT1124274	hsa-miR-30e	CLIP-seq
MIRT2035124	hsa-miR-3121-3p	CLIP-seq
MIRT2035125	hsa-miR-3124-3p	CLIP-seq
MIRT2035126	hsa-miR-3180-5p	CLIP-seq
MIRT2035127	hsa-miR-34c-3p	CLIP-seq
MIRT1124275	hsa-miR-3591-3p	CLIP-seq
MIRT1124276	hsa-miR-3607-3p	CLIP-seq
MIRT2035128	hsa-miR-376a	CLIP-seq
MIRT2035129	hsa-miR-376b	CLIP-seq
MIRT2035130	hsa-miR-4330	CLIP-seq
MIRT2035131	hsa-miR-448	CLIP-seq
MIRT2035132	hsa-miR-4661-3p	CLIP-seq
MIRT2035133	hsa-miR-4773	CLIP-seq
MIRT2035134	hsa-miR-520a-5p	CLIP-seq
MIRT2035135	hsa-miR-525-5p	CLIP-seq
MIRT2035136	hsa-miR-607	CLIP-seq
MIRT2035137	hsa-miR-642b	CLIP-seq
MIRT2035138	hsa-miR-651	CLIP-seq
MIRT2035139	hsa-miR-664	CLIP-seq
MIRT2265541	hsa-miR-2277-3p	CLIP-seq
MIRT2265542	hsa-miR-4724-5p	CLIP-seq
MIRT2265543	hsa-miR-4778-5p	CLIP-seq
MIRT2265544	hsa-miR-4797-5p	CLIP-seq
MIRT2265545	hsa-miR-922	CLIP-seq
MIRT2438457	hsa-miR-1305	CLIP-seq
MIRT2438458	hsa-miR-330-3p	CLIP-seq
MIRT2438459	hsa-miR-4422	CLIP-seq
MIRT2438460	hsa-miR-4645-3p	CLIP-seq
MIRT2035136	hsa-miR-607	CLIP-seq
MIRT2453566	hsa-miR-1272	CLIP-seq
MIRT2453567	hsa-miR-3646	CLIP-seq
MIRT2453568	hsa-miR-577	CLIP-seq
MIRT2564872	hsa-miR-1193	CLIP-seq
MIRT2564873	hsa-miR-1228	CLIP-seq
MIRT2035119	hsa-miR-1238	CLIP-seq
MIRT2035120	hsa-miR-1245b-3p	CLIP-seq
MIRT2438457	hsa-miR-1305	CLIP-seq
MIRT2564874	hsa-miR-134	CLIP-seq
MIRT2564875	hsa-miR-15a	CLIP-seq
MIRT2564876	hsa-miR-15b	CLIP-seq
MIRT2564877	hsa-miR-16	CLIP-seq
MIRT2564878	hsa-miR-195	CLIP-seq
MIRT2564879	hsa-miR-198	CLIP-seq
MIRT2564880	hsa-miR-2113	CLIP-seq
MIRT2265541	hsa-miR-2277-3p	CLIP-seq
MIRT2564881	hsa-miR-2355-3p	CLIP-seq
MIRT2564882	hsa-miR-3065-3p	CLIP-seq
MIRT2564883	hsa-miR-3118	CLIP-seq
MIRT2035124	hsa-miR-3121-3p	CLIP-seq
MIRT2035125	hsa-miR-3124-3p	CLIP-seq
MIRT2564884	hsa-miR-3135	CLIP-seq
MIRT2564885	hsa-miR-3160-5p	CLIP-seq
MIRT2564886	hsa-miR-3164	CLIP-seq
MIRT2564887	hsa-miR-3176	CLIP-seq
MIRT2035126	hsa-miR-3180-5p	CLIP-seq
MIRT2438458	hsa-miR-330-3p	CLIP-seq
MIRT2564888	hsa-miR-331-5p	CLIP-seq
MIRT2035127	hsa-miR-34c-3p	CLIP-seq
MIRT2564889	hsa-miR-3607-5p	CLIP-seq
MIRT2564890	hsa-miR-3615	CLIP-seq
MIRT2564891	hsa-miR-3663-3p	CLIP-seq
MIRT2564892	hsa-miR-3673	CLIP-seq
MIRT2564893	hsa-miR-3922-3p	CLIP-seq
MIRT2564894	hsa-miR-3944-5p	CLIP-seq
MIRT2564895	hsa-miR-424	CLIP-seq
MIRT2564896	hsa-miR-4282	CLIP-seq
MIRT2438459	hsa-miR-4422	CLIP-seq
MIRT2564897	hsa-miR-4477b	CLIP-seq
MIRT2564898	hsa-miR-4501	CLIP-seq
MIRT2564899	hsa-miR-4521	CLIP-seq
MIRT2564900	hsa-miR-4522	CLIP-seq
MIRT2564901	hsa-miR-4528	CLIP-seq
MIRT2438460	hsa-miR-4645-3p	CLIP-seq
MIRT2564902	hsa-miR-4646-3p	CLIP-seq
MIRT2035132	hsa-miR-4661-3p	CLIP-seq
MIRT2564903	hsa-miR-4666-5p	CLIP-seq
MIRT2564904	hsa-miR-4678	CLIP-seq
MIRT2564905	hsa-miR-4701-5p	CLIP-seq
MIRT2564906	hsa-miR-4768-5p	CLIP-seq
MIRT2035133	hsa-miR-4773	CLIP-seq
MIRT2564907	hsa-miR-4799-5p	CLIP-seq
MIRT2564908	hsa-miR-4802-3p	CLIP-seq
MIRT2564909	hsa-miR-497	CLIP-seq
MIRT2035134	hsa-miR-520a-5p	CLIP-seq
MIRT2035135	hsa-miR-525-5p	CLIP-seq
MIRT2564910	hsa-miR-584	CLIP-seq
MIRT2564911	hsa-miR-588	CLIP-seq
MIRT2035136	hsa-miR-607	CLIP-seq
MIRT2035137	hsa-miR-642b	CLIP-seq
MIRT2035138	hsa-miR-651	CLIP-seq
MIRT2265545	hsa-miR-922	CLIP-seq
MIRT2564872	hsa-miR-1193	CLIP-seq
MIRT2564873	hsa-miR-1228	CLIP-seq
MIRT2035119	hsa-miR-1238	CLIP-seq
MIRT2035120	hsa-miR-1245b-3p	CLIP-seq
MIRT2438457	hsa-miR-1305	CLIP-seq
MIRT2564875	hsa-miR-15a	CLIP-seq
MIRT2564876	hsa-miR-15b	CLIP-seq
MIRT2564877	hsa-miR-16	CLIP-seq
MIRT2564878	hsa-miR-195	CLIP-seq
MIRT2564880	hsa-miR-2113	CLIP-seq
MIRT2265541	hsa-miR-2277-3p	CLIP-seq
MIRT2564881	hsa-miR-2355-3p	CLIP-seq
MIRT2035124	hsa-miR-3121-3p	CLIP-seq
MIRT2035125	hsa-miR-3124-3p	CLIP-seq
MIRT2564884	hsa-miR-3135	CLIP-seq
MIRT2564885	hsa-miR-3160-5p	CLIP-seq
MIRT2564887	hsa-miR-3176	CLIP-seq
MIRT2035126	hsa-miR-3180-5p	CLIP-seq
MIRT2438458	hsa-miR-330-3p	CLIP-seq
MIRT2564888	hsa-miR-331-5p	CLIP-seq
MIRT2035127	hsa-miR-34c-3p	CLIP-seq
MIRT2564889	hsa-miR-3607-5p	CLIP-seq
MIRT2564890	hsa-miR-3615	CLIP-seq
MIRT2564891	hsa-miR-3663-3p	CLIP-seq
MIRT2564892	hsa-miR-3673	CLIP-seq
MIRT2564893	hsa-miR-3922-3p	CLIP-seq
MIRT2564894	hsa-miR-3944-5p	CLIP-seq
MIRT2564895	hsa-miR-424	CLIP-seq
MIRT2438459	hsa-miR-4422	CLIP-seq
MIRT2564897	hsa-miR-4477b	CLIP-seq
MIRT2564899	hsa-miR-4521	CLIP-seq
MIRT2564900	hsa-miR-4522	CLIP-seq
MIRT2564901	hsa-miR-4528	CLIP-seq
MIRT2438460	hsa-miR-4645-3p	CLIP-seq
MIRT2564902	hsa-miR-4646-3p	CLIP-seq
MIRT2035132	hsa-miR-4661-3p	CLIP-seq
MIRT2564903	hsa-miR-4666-5p	CLIP-seq
MIRT2564904	hsa-miR-4678	CLIP-seq
MIRT2564905	hsa-miR-4701-5p	CLIP-seq
MIRT2564906	hsa-miR-4768-5p	CLIP-seq
MIRT2035133	hsa-miR-4773	CLIP-seq
MIRT2564907	hsa-miR-4799-5p	CLIP-seq
MIRT2564908	hsa-miR-4802-3p	CLIP-seq
MIRT2564909	hsa-miR-497	CLIP-seq
MIRT2035134	hsa-miR-520a-5p	CLIP-seq
MIRT2035135	hsa-miR-525-5p	CLIP-seq
MIRT2564910	hsa-miR-584	CLIP-seq
MIRT2564911	hsa-miR-588	CLIP-seq
MIRT2035136	hsa-miR-607	CLIP-seq
MIRT2035137	hsa-miR-642b	CLIP-seq
MIRT2035138	hsa-miR-651	CLIP-seq
MIRT2265545	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11984006
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006909	Process	Phagocytosis	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0008104	Process	Protein localization	IBA	21873635
GO:0015031	Process	Protein transport	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	9606205
GO:0016020	Component	Membrane	IBA	21873635
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0030595	Process	Leukocyte chemotaxis	ISS
GO:0032438	Process	Melanosome organization	ISS
GO:0032510	Process	Endosome to lysosome transport via multivesicular body sorting pathway	IMP	9606205
GO:0033364	Process	Mast cell secretory granule organization	ISS
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IMP	6154765, 10648412
GO:0042742	Process	Defense response to bacterium	ISS
GO:0042832	Process	Defense response to protozoan	ISS
GO:0043473	Process	Pigmentation	IMP	10648412
GO:0051607	Process	Defense response to virus	ISS

Other IDs

• MIM: 606897
• HGNC: 1968
• e!Ensembl: ENSG00000143669

Protein

• UniProt ID: Q99698
• Protein name: Lysosomal-trafficking regulator (Beige homolog)
• Protein function: Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107). Might regulate trafficking of effectors involved in exocytosis (PubMed:25425525). In cytotoxic T-cells and natural kill
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14844	PH_BEACH	3020 → 3115	PH domain associated with Beige/BEACH	Domain
  PF02138	Beach	3133 → 3422	Beige/BEACH domain	Family
  PF00400	WD40	3606 → 3644	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain. {ECO:0000269|PubMed:9215680}.
• Sequence:

  MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMATLGQYLVHGRGFLLLTKLNS
  IIDQALTCREELLTLLLSLLPLVWKIPVQEEKATDFNLPLSADIILTKEKNSSSQRSTQE
  KLHLEGSALSSQVSAKVNVFRKSRRQRKITHRYSVRDARKTQLSTSDSEANSDEKGIAMN
  KHRRPHLLHHFLTSFPKQDHPKAKLDRLATKEQTPPDAMALENSREIIPRQGSNTDILSE
  PAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVTLNHNSPLAASVVPTLTEFLAGFGDCC
  SLSDNLESRVVSAGWTEEPVALIQRMLFRTVLHLLSVDVSTAEMMPENLRKNLTELLRAA
  LKIRICLEKQPDPFAPRQKKTLQEVQEDFVFSKYRHRALLLPELLEGVLQILICCLQSAA
  SNPFYFSQAMDLVQEFIQHHGFNLFETAVLQMEWLVLRDGVPPEASEHLKALINSVMKIM
  STVKKVKSEQLHHSMCTRKRHRRCEYSHFMHHHRDLSGLLVSAFKNQVSKNPFEETADGD
  VYYPERCCCIAVCAHQCLRLLQQASLSSTCVQILSGVHNIGICCCMDPKSVIIPLLHAFK
  LPALKNFQQHILNILNKLILDQLGGAEISPKIKKAACNICTVDSDQLAQLEETLQGNLCD
  AELSSSLSSPSYRFQGILPSSGSEDLLWKWDALKAYQNFVFEEDRLHSIQIANHICNLIQ
  KGNIVVQWKLYNYIFNPVLQRGVELAHHCQHLSVTSAQSHVCSHHNQCLPQDVLQIYVKT
  LPILLKSRVIRDLFLSCNGVSQIIELNCLNGIRSHSLKAFETLIISLGEQQKDASVPDID
  GIDIEQKELSSVHVGTSFHHQQAYSDSPQSLSKFYAGLKEAYPKRRKTVNQDVHINTINL
  FLCVAFLCVSKEAESDRESANDSEDTSGYDSTASEPLSHMLPCISLESLVLPSPEHMHQA
  ADIWSMCRWIYMLSSVFQKQFYRLGGFRVCHKLIFMIIQKLFRSHKEEQGKKEGDTSVNE
  NQDLNRISQPKRTMKEDLLSLAIKSDPIPSELGSLKKSADSLGKLELQHISSINVEEVSA
  TEAAPEEAKLFTSQESETSLQSIRLLEALLAICLHGARTSQQKMELELPNQNLSVESILF
  EMRDHLSQSKVIETQLAKPLFDALLRVALGNYSADFEHNDAMTEKSHQSAEELSSQPGDF
  SEEAEDSQCCSFKLLVEEEGYEADSESNPEDGETQDDGVDLKSETEGFSASSSPNDLLEN
  LTQGEIIYPEICMLELNLLSASKAKLDVLAHVFESFLKIIRQKEKNVFLLMQQGTVKNLL
  GGFLSILTQDDSDFQACQRVLVDLLVSLMSSRTCSEELTLLLRIFLEKSPCTKILLLGIL
  KIIESDTTMSPSQYLTFPLLHAPNLSNGVSSQKYPGILNSKAMGLLRRARVSRSKKEADR
  ESFPHRLLSSWHIAPVHLPLLGQNCWPHLSEGFSVSLWFNVECIHEAESTTEKGKKIKKR
  NKSLILPDSSFDGTESDRPEGAEYINPGERLIEEGCIHIISLGSKALMIQVWADPHNATL
  IFRVCMDSNDDMKAVLLAQVESQENIFLPSKWQHLVLTYLQQPQGKRRIHGKISIWVSGQ
  RKPDVTLDFMLPRKTSLSSDSNKTFCMIGHCLSSQEEFLQLAGKWDLGNLLLFNGAKVGS
  QEAFYLYACGPNHTSVMPCKYGKPVNDYSKYINKEILRCEQIRELFMTKKDVDIGLLIES
  LSVVYTTYCPAQYTIYEPVIRLKGQMKTQLSQRPFSSKEVQSILLEPHHLKNLQPTEYKT
  IQGILHEIGGTGIFVFLFARVVELSSCEETQALALRVILSLIKYNQQRVHELENCNGLSM
  IHQVLIKQKCIVGFYILKTLLEGCCGEDIIYMNENGEFKLDVDSNAIIQDVKLLEELLLD
  WKIWSKAEQGVWETLLAALEVLIRADHHQQMFNIKQLLKAQVVHHFLLTCQVLQEYKEGQ
  LTPMPREVCRSFVKIIAEVLGSPPDLELLTIIFNFLLAVHPPTNTYVCHNPTNFYFSLHI
  DGKIFQEKVRSIMYLRHSSSGGRSLMSPGFMVISPSGFTASPYEGENSSNIIPQQMAAHM
  LRSRSLPAFPTSSLLTQSQKLTGSLGCSIDRLQNIADTYVATQSKKQNSLGSSDTLKKGK
  EDAFISSCESAKTVCEMEAVLSAQVSVSDVPKGVLGFPVVKADHKQLGAEPRSEDDSPGD
  ESCPRRPDYLKGLASFQRSHSTIASLGLAFPSQNGSAAVGRWPSLVDRNTDDWENFAYSL
  GYEPNYNRTASAHSVTEDCLVPICCGLYELLSGVLLILPDVLLEDVMDKLIQADTLLVLV
  NHPSPAIQQGVIKLLDAYFARASKEQKDKFLKNRGFSLLANQLYLHRGTQELLECFIEMF
  FGRHIGLDEEFDLEDVRNMGLFQKWSVIPILGLIETSLYDNILLHNALLLLLQILNSCSK
  VADMLLDNGLLYVLCNTVAALNGLEKNIPMSEYKLLACDIQQLFIAVTIHACSSSGSQYF
  RVIEDLIVMLGYLQNSKNKRTQNMAVALQLRVLQAAMEFIRTTANHDSENLTDSLQSPSA
  PHHAVVQKRKSIAGPRKFPLAQTESLLMKMRSVANDELHVMMQRRMSQENPSQATETELA
  QRLQRLTVLAVNRIIYQEFNSDIIDILRTPENVTQSKTSVFQTEISEENIHHEQSSVFNP
  FQKEIFTYLVEGFKVSIGSSKASGSKQQWTKILWSCKETFRMQLGRLLVHILSPAHAAQE
  RKQIFEIVHEPNHQEILRDCLSPSLQHGAKLVLYLSELIHNHQGELTEEELGTAELLMNA
  LKLCGHKCIPPSASTKADLIKMIKEEQKKYETEEGVNKAAWQKTVNNNQQSLFQRLDSKS
  KDISKIAADITQAVSLSQGNERKKVIQHIRGMYKVDLSASRHWQELIQQLTHDRAVWYDP
  IYYPTSWQLDPTEGPNRERRRLQRCYLTIPNKYLLRDRQKSEDVVKPPLSYLFEDKTHSS
  FSSTVKDKAASESIRVNRRCISVAPSRETAGELLLGKCGMYFVEDNASDTVESSSLQGEL
  EPASFSWTYEEIKEVHKRWWQLRDNAVEIFLTNGRTLLLAFDNTKVRDDVYHNILTNNLP
  NLLEYGNITALTNLWYTGQITNFEYLTHLNKHAGRSFNDLMQYPVFPFILADYVSETLDL
  NDLLIYRNLSKPIAVQYKEKEDRYVDTYKYLEEEYRKGAREDDPMPPVQPYHYGSHYSNS
  GTVLHFLVRMPPFTKMFLAYQDQSFDIPDRTFHSTNTTWRLSSFESMTDVKELIPEFFYL
  PEFLVNREGFDFGVRQNGERVNHVNLPPWARNDPRLFILIHRQALESDYVSQNICQWIDL
  VFGYKQKGKASVQAINVFHPATYFGMDVSAVEDPVQRRALETMIKTYGQTPRQLFHMAHV
  SRPGAKLNIEGELPAAVGLLVQFAFRETREQVKEITYPSPLSWIKGLKWGEYVGSPSAPV
  PVVCFSQPHGERFGSLQALPTRAICGLSRNFCLLMTYSKEQGVRSMNSTDIQWSAILSWG
  YADNILRLKSKQSEPPVNFIQSSQQYQVTSCAWVPDSCQLFTGSKCGVITAYTNRFTSST
  PSEIEMETQIHLYGHTEEITSLFVCKPYSILISVSRDGTCIIWDLNRLCYVQSLAGHKSP
  VTAVSASETSGDIATVCDSAGGGSDLRLWTVNGDLVGHVHCREIICSVAFSNQPEGVSIN
  VIAGGLENGIVRLWSTWDLKPVREITFPKSNKPIISLTFSCDGHHLYTANSDGTVIAWCR
  KDQQRLKQPMFYSFLSSYAAG

• Sequence length: 3801

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042	23436631, 25519961, 11857544
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ocular albinism	Albinism, Ocular	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Parkinson disease	Parkinsonian Disorders	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	23436631, 11857544, 25519961
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	25519960, 25519961

Unknown
Disease term	Disease name	Evidence	References	Source
Chediak-Higashi Syndrome	attenuated Chédiak-Higashi syndrome			GenCC
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	38608841
Albinism	Associate	35488210
Albinism Oculocutaneous	Associate	23521865, 25312756
Arthritis Juvenile	Associate	25047945
Chediak Higashi Syndrome	Associate	10648412, 11068180, 20503323, 23521865, 25086066, 25425525, 26478006, 28145517, 28183707, 31906877, 33868243, 34224985, 36707427, 38282619
Chordoma	Associate	29026114
Colorectal Neoplasms	Associate	35487942, 38608841
Developmental Disabilities	Associate	20503323
Epstein Barr Virus Infections	Associate	30782130
Hematologic Diseases	Associate	31562900
Immunologic Deficiency Syndromes	Associate	31562900
Leukemia Myeloid Acute	Associate	30383631, 34655717
Lupus Erythematosus Systemic	Associate	29059182, 34952359
Lymphohistiocytosis Hemophagocytic	Associate	24916509, 25312756, 26597256, 28270454, 29357941, 30383631, 31562900, 32542393
Lysosomal Storage Diseases	Associate	25086066
Macrophage Activation Syndrome	Associate	25047945, 26597256
Multiple Myeloma	Associate	27754828
Neoplasms	Associate	29026114
Neurodegenerative Diseases	Associate	23521865
Parkinson Disease	Associate	34250953
Pneumonia	Associate	28183707
Primary Immunodeficiency Diseases	Associate	38644452
Propping Zerres syndrome	Associate	30782130
Splenomegaly	Associate	31906877
Uniparental Disomy	Associate	20503323, 33868243