ABCG8 (ATP binding cassette subfamily G member 8)

Gene

• Entrez ID: 64241
• Gene name: ATP binding cassette subfamily G member 8
• Gene symbol: ABCG8
• Synonyms (NCBI Gene): GBD4, STSL, STSL1
• Chromosome: 2
• Chromosome location: 2p21
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113005049	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs137852987	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137852988	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852989	C>G	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852990	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852991	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852992	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852993	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs139677898	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140778634	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144200355	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs145482605	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs146046068	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147582834	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147991100	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs150654176	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201991639	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369131115	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906323	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs544500542	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs957176669	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Splice acceptor variant
rs1456237152	->GTGAGCGCAGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017992	hsa-miR-335-5p	Microarray	18185580
MIRT022678	hsa-miR-124-3p	Microarray	18668037
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	27292025
MIRT695824	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT759343	hsa-miR-1227	CLIP-seq
MIRT759344	hsa-miR-1298	CLIP-seq
MIRT759345	hsa-miR-331-3p	CLIP-seq
MIRT759346	hsa-miR-3665	CLIP-seq
MIRT759347	hsa-miR-4308	CLIP-seq
MIRT759348	hsa-miR-4715-3p	CLIP-seq
MIRT759349	hsa-miR-4760-3p	CLIP-seq
MIRT759350	hsa-miR-4762-5p	CLIP-seq
MIRT759351	hsa-miR-4786-3p	CLIP-seq
MIRT759352	hsa-miR-657	CLIP-seq
MIRT759353	hsa-miR-664	CLIP-seq
MIRT759354	hsa-miR-7	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	21123766
NR5A2	Activation	15121760
SREBF2	Repression	21123766

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 27144356, 32296183
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATP hydrolysis activity	IDA	16893193
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0031667	Process	Response to nutrient levels	IEA
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	IEA
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055092	Process	Sterol homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 605460
• HGNC: 13887
• e!Ensembl: ENSG00000143921

Protein

• UniProt ID: Q9H221
• Protein name: ATP-binding cassette sub-family G member 8 (EC 7.6.2.-) (Sterolin-2)
• Protein function: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in th
• PDB: 5DO7, 7JR7, 7R87, 7R88, 7R89, 7R8A, 7R8B, 8CUB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	88 → 241	ABC transporter	Domain
  PF19055	ABC2_membrane_7	270 → 355	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	397 → 608	ABC-2 type transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359). {
• Sequence:

  MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS
  QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG
  RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS
  QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
  SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM
  VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL
  WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH
  GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
  ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF
  CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF
  EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV
  SLRFIKQKPSQDW

• Sequence length: 673

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
ABCG8-related disorder	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs1426776095, rs544500542, rs934115584, rs1456237152	RCV003407277 RCV003407278 RCV003952343 RCV003410869 RCV003420036 RCV004742522 RCV004742533	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal circulating lipid concentration	Pathogenic	rs2466292637	RCV002283587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs371646728, rs137852987, rs137852988, rs137852991, rs780072835	RCV005724774 RCV002426490 RCV002408452 RCV003298028 RCV005382518	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early-onset coronary artery disease	Likely pathogenic; Pathogenic	rs137852988, rs2466203768	RCV005406725 RCV004765922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder disease 4	Likely pathogenic; Pathogenic	rs137852987	RCV002504749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs544500542, rs1456237152, rs957176669	RCV000005255 RCV000005256 RCV000005260 RCV005357786 RCV005357791 RCV000602419	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762279471, rs1317214046, rs754182905, rs770023485, rs137852987, rs137852988, rs387906323, rs137852991, rs137852992, rs137852993, rs780072835, rs2466201941, rs770488528, rs137854891, rs544500542, rs934115584, rs1000291485, rs1456237152, rs957176669, rs748233241, rs1668974150	RCV002245433 RCV002272663 RCV002272852 RCV005636709 RCV000993693 RCV000993692 RCV000005259 RCV000993691 RCV000005261 RCV000005262 RCV005631076 RCV003141324 RCV003141367 RCV000032718 RCV002280880 RCV005630765 RCV001783098 RCV005632514 RCV001784224 RCV003989650 RCV001248858	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTITIS, ACUTE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTOLITHIASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature coronary artery atherosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Hemolytic	Anemia	BEFREE	24623560		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11099417, 15175362, 18977479, 23165086, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11099417, 15175362, 18977479, 23165086, 24423340		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	21062971		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21062971, 21274884		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	28696550		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17976197, 18977479, 19306529, 23165086, 23241408, 23707316		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18581044		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23241408	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebral artery atherosclerosis	Cerebral artery atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21062971		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	30692554		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	39519421	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis Acute	Cholecystitis	Pubtator	39519421	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17612515, 17626266, 18408466, 18522623, 19018975, 21039838, 21062971, 21274884, 22869156, 24914347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	BEFREE	17612515, 17626266, 17632509, 18408466, 18457353, 18522623, 19018975, 20163776, 20497293, 20594224, 20837016, 21039838, 21062971, 21274884, 22869156, 23406058, 23583734, 24811295, 24914347, 27094239, 27981300, 30692554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	20497293, 23406058, 23577061, 24657701, 27981300, 29764733, 30692554, 36981027, 37344314, 37914780, 40428345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	25798860	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	GENOMICS_ENGLAND_DG	25798860		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	19306529, 20163776, 20594224, 22898925, 23577061, 24914347, 29764733		★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25804128		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	11099417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15375183, 20592455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	11099417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	15375183, 20592455, 21966275, 32702746, 32862661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	19217458, 20529992, 20592455, 21966275, 26043746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714975, 29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	18977479, 20592455, 24691589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	20592455, 26088706		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20592455, 26088706		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23840693, 26088706		★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	BEFREE	28739549		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	ORPHANET_DG	20172523		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	19018975, 21062971, 30692554		★☆☆☆☆ Found in Text Mining only
GALLBLADDER DISEASE 4	Gallbladder Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GALLBLADDER DISEASE 4	Gallbladder Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	30692554	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	18007013, 23406058, 24657701, 24914347, 29764733, 32702746, 34906072, 37344314	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	27981300		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	20594224, 30692554		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24166850	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	16029460, 22297561	Associate	★☆☆☆☆ Found in Text Mining only
Homozygous familial hypercholesterolemia	Homozygous Hypercholesterolemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	14703505, 18522623, 18581044		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	14703505, 36991406, 38122934	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	15175362, 18522623, 18581044, 19012522, 23707316, 29891894		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG	25414277		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	18977479, 31327807		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23840693		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31295384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia, Familial Combined	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	25414277, 30269829, 31327807, 31901240, 34011801, 36648309, 38122934	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	18977479, 31327807		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20592455		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15175352	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20854103		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	25804128		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25804128		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31538484	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860	Associate	★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	BEFREE	24914347		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25683935	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	22297561, 24623560, 29984642		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia-Stomatocytosis, Mediterranean	Macrothrombocytopenia-Stomatocytosis	CTD_human_DG	11099417		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	19018975, 21062971, 30692554		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15175352, 19306529		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24657701, 37914780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30120929		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34805411	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	BEFREE	11099417, 11264985, 11668628, 12911117, 15210841, 15375183, 16029460, 16507104, 17785700, 17976197, 18441155, 18668442, 19111681, 23180829, 23926302, 24811295, 25056759, 25941971, 28383515, 28521186, 28696550, 28739549, 30007774, 31654053		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	UNIPROT_DG	11099417, 11452359, 15054092		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	CTD_human_DG	11099417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	ORPHANET_DG	11099417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	Pubtator	15175352, 15210841, 15375183, 16029460, 16507104, 22297561, 24166850, 29055934, 31901240, 32641618, 32862661, 34887220, 36329474	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	GENOMICS_ENGLAND_DG	25798860, 27291889		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	CLINVAR_DG	28739549		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma	Carcinoma	GWASDB_DG	23103227		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24716914	Associate	★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tuberous xanthoma	Tuberous xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20854103		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	25056759, 28739549		★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	Pubtator	22297561	Associate	★☆☆☆☆ Found in Text Mining only