LYST (lysosomal trafficking regulator)

Gene

• Entrez ID: 1130
• Gene name: Lysosomal trafficking regulator
• Gene symbol: LYST
• Synonyms (NCBI Gene): CHS, CHS1, Mauve
• 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:0002449	Process	Lymphocyte mediated immunity	IEA
GO:0005515	Function	Protein binding	IPI	11984006
GO:0005737	Component	Cytoplasm	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006955	Process	Immune response	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	9606205
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	IEA
GO:0043473	Process	Pigmentation	IMP	10648412
GO:0051607	Process	Defense response to virus	ISS
GO:0098542	Process	Defense response to other organism	IEA

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Pathogenic	rs1468055437	RCV001270503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory syndrome	Likely pathogenic	rs2102864339	RCV002262040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs2527783212, rs201694319, rs1449954533, rs760317441, rs2527078803, rs2527115755, rs1673263416, rs1324833938, rs747022808, rs1444318368, rs1157079200, rs373529106, rs2527714206, rs1663294340, rs1236600542, rs2527550514, rs1664595275, rs1669915673, rs1667380258, rs2527258815, rs2527844947, rs2527528620, rs2527449218, rs2527038050, rs2527888341, rs2527973482, rs2527154062, rs2527128643, rs1227624153, rs2527363381, rs2527363360, rs2527761995, rs2527805640, rs797044542, rs797044540, rs757222354, rs370022675, rs797044534, rs2527363613, rs80338644, rs80338652, rs80338642, rs80338646, rs80338667, rs80338643, rs80338651, rs80338649, rs28942077, rs775461913, rs1665672573, rs1179853540, rs1667309466, rs756867102, rs2528043946, rs1411819028, rs2527761127, rs2103314747, rs2527014983, rs2527115993, rs2527299680, rs2527622353, rs1672863537, rs2526911861, rs2527811287, rs2527016426, rs2527086071, rs864309530, rs2527257999, rs2528042451, rs1316749927, rs2527086097, rs754616030, rs745358946, rs2526932418, rs2527786424, rs2527364273, rs2527301480, rs145973468, rs2527559893, rs2527300997, rs2527159983, rs2527106533, rs2527008372, rs2527258082, rs2527105833, rs2527257698, rs2527324489, rs1394834891, rs2527448865, rs2527961081, rs2527549383, rs2527285195, rs1345024890, rs2527159996, rs2527121232, rs2527475132, rs1667339912, rs1663631401, rs2528043049, rs1346066490, rs2527102709, rs2527805437, rs2527669033, rs2527886589, rs2527784533, rs2527103588, rs2527284830, rs2527008662, rs2527285556, rs2527417689, rs2527072205, rs2527994002, rs2527113303, rs2527560402, rs752402013, rs986454063, rs2526908392, rs2527417930, rs922968465, rs773854714, rs2527723147, rs1668533101, rs2527550732, rs2527116390, rs2527449293, rs2527080870, rs1315636646, rs756716492, rs2527888357, rs2527120778, rs2527017466, rs538193441, rs1281525479, rs2527110492, rs2527324049, rs2527363448, rs2527364709, rs2527114523, rs2527322667, rs2527474663, rs760333915, rs2527113160, rs891787440, rs2527301436, rs778490429, rs1157219727, rs2527122347, rs1669798610, rs2527417807, rs2527926022, rs1673628520, rs2526906935, rs2527016939, rs2527122910, rs2527380452, rs2527363889, rs2527722597, rs2527258499, rs2526907455, rs2527505914, rs2527380441, rs2527417596, rs2527813203, rs80338660, rs2527070597, rs2527324515, rs2526908416, rs2527734131, rs2527087129, rs1041137098, rs1346059141, rs1238562877, rs2527109083, rs2527551269, rs2526914541, rs1479550470, rs2527417604, rs2527114176, rs2527121662, rs2527531929, rs1188244229, rs201382097, rs762160809, rs1558282769, rs2527037759, rs80338645, rs80338647, rs80338668, rs1379717085, rs2527072900, rs778586545, rs2528089182, rs1468055437	RCV004576826 RCV001935751 RCV003469982 RCV001381629 RCV001388507 RCV001388508 RCV001389987 RCV001527403 RCV001783621 RCV001783622 RCV001783623 RCV001783625 RCV001783626 RCV001783627 RCV002037676 RCV001999929 RCV001941823 RCV001896870 RCV001881298 RCV001988055 RCV001994749 RCV001986003 RCV002037719 RCV002037789 RCV001976726 RCV001925907 RCV001931925 RCV002042202 RCV002244100 RCV002254225 RCV002254226 RCV002254228 RCV002283891 RCV000192052 RCV000192050 RCV000192046 RCV000192042 RCV000192043 RCV003066994 RCV000055721 RCV000055730 RCV000055720 RCV000055724 RCV000055745 RCV000055722 RCV000055729 RCV000055727 RCV000055738 RCV002651429 RCV003112106 RCV003112107 RCV002613244 RCV002605360 RCV002646880 RCV002843011 RCV002816605 RCV002839183 RCV002857647 RCV002847560 RCV002875715 RCV002871444 RCV002890885 RCV002889856 RCV002899386 RCV002927241 RCV003003064 RCV005230075 RCV003020613 RCV003026912 RCV003051777 RCV003147104 RCV001381378 RCV003461814 RCV003470003 RCV003470004 RCV003469973 RCV003469974 RCV003469975 RCV003469976 RCV003469977 RCV003469978 RCV003469979 RCV003469980 RCV003461803 RCV003469983 RCV003469984 RCV003469985 RCV003469986 RCV003469987 RCV003469988 RCV003469989 RCV003469990 RCV003461804 RCV003461805 RCV003469991 RCV003469992 RCV003461806 RCV003461807 RCV003461808 RCV003461809 RCV003469993 RCV003461810 RCV003461811 RCV003469995 RCV003469996 RCV003461812 RCV003469997 RCV003469998 RCV003461813 RCV003469999 RCV003470000 RCV003470001 RCV003486325 RCV003523875 RCV003523218 RCV003524158 RCV003522116 RCV003522178 RCV003522209 RCV003524182 RCV003522186 RCV003522334 RCV003524968 RCV003524972 RCV003525265 RCV003523676 RCV003523792 RCV003523786 RCV003523865 RCV003523866 RCV003523867 RCV003524428 RCV003524535 RCV003523755 RCV003524516 RCV003524578 RCV003523828 RCV003524749 RCV003522776 RCV003522763 RCV003522858 RCV003522610 RCV003636314 RCV003637101 RCV003637129 RCV003636947 RCV003637117 RCV003637149 RCV003637269 RCV003637242 RCV003637355 RCV003637369 RCV003637686 RCV003637378 RCV003637678 RCV003637816 RCV003637972 RCV003638001 RCV003638057 RCV003637893 RCV003635446 RCV003635506 RCV003635429 RCV003635489 RCV003635622 RCV003835945 RCV003835218 RCV003848621 RCV003869888 RCV005015090 RCV003991820 RCV004547211 RCV004576818 RCV004576820 RCV004576821 RCV004576822 RCV004576823 RCV004576825 RCV004576827 RCV004576828 RCV004576829 RCV004576830 RCV000500831 RCV000629191 RCV000681452 RCV000692870 RCV001855924 RCV000820722 RCV000055723 RCV000055725 RCV000055746 RCV000991361 RCV001027989 RCV001039868 RCV001056070 RCV003770411	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	Likely pathogenic; Pathogenic	rs80338652, rs28942077	RCV000004013 RCV000004021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE	Pathogenic; Likely pathogenic	rs80338644, rs80338642, rs80338646, rs80338667, rs80338643, rs80338651, rs80338649	RCV000004012 RCV000004014 RCV000004015 RCV000004016 RCV000004017 RCV000004018 RCV000004019	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYST-related disorder	Likely pathogenic; Pathogenic	rs2527081103, rs2527285147, rs2527110492, rs2526908416	RCV003391345 RCV003414242 RCV003901207 RCV003901705	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent infections	Likely pathogenic	rs864309530	RCV000202612	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic	rs1468055437	RCV001270503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attenuated Chediak-Higashi syndrome	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHEDIAK-HIGASHI SYNDROME	—	CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Susceptibility to severe COVID-19	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism	Albinism	GENOMICS_ENGLAND_DG	11857544, 23436631, 25519961		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	35488210	Associate	★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	23521865, 25312756	Associate	★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	BEFREE	15452859		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	23521865, 26165494		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28254175		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25047945	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28254175		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25065297, 28775064		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
	Chediak-Higashi Syndrome	ORPHANET_DG	23521865		★☆☆☆☆ Found in Text Mining only
	Chediak-Higashi Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	29026114		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10094567, 10411929, 10594238, 10648412, 11857544, 15896657, 17088644, 20617205, 21488161, 21878672, 23521865, 24112114, 24521565, 25086066, 25216107, 25425525, 26478006, 27669550, 27881733, 28145517, 29241728, 30738290, 31043676, 8717042, 8751863, 9215679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	GENOMICS_ENGLAND_DG	10482950, 11857544, 14599068, 21209802, 23436631, 25519960, 25519961, 27669550, 8896560, 9215680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	CLINVAR_DG	10648412, 28145517, 28193763, 28458669, 8896560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	LHGDN	11857544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	UNIPROT_DG	11857544, 24521565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	ORPHANET_DG	20368792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Chediak-Higashi Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chordoma	Chordoma	BEFREE	29026114		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	29026114	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19430482		★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen Syndrome	BEFREE	7920642		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35487942, 38608841	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28775064		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20503323	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	19029039, 23157966		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	19345421		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28775064		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31562900	Associate	★☆☆☆☆ Found in Text Mining only
Hemophagocytic Syndrome	Hemophagocytic Syndrome	BEFREE	23521865		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10094567		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28762620		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29949390		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30383631, 34655717	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29059182, 34952359	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	24916509, 25312756, 26597256, 28270454, 29357941, 30383631, 31562900, 32542393	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	17151879, 21878672, 23521865, 30383631, 30782130		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27754828, 29026114		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15090743, 27754828		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27754828	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	9761019		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28187380		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23521865	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23521865, 26944273, 28193763		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34250953	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	GENOMICS_ENGLAND_DG	11857544, 23436631, 25519961		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	GENOMICS_ENGLAND_DG	11857544, 23436631, 25519961		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	27669550		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19345421		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	24521565		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	25519960, 25519961		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	31906877	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18043242		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	17151879		★☆☆☆☆ Found in Text Mining only