ABCG5 (ATP binding cassette subfamily G member 5)

Gene

• Entrez ID: 64240
• Gene name: ATP binding cassette subfamily G member 5
• Gene symbol: ABCG5
• Synonyms (NCBI Gene): STSL, STSL2
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT1923805	hsa-miR-34b	CLIP-seq
MIRT1923806	hsa-miR-362-5p	CLIP-seq
MIRT1923807	hsa-miR-500a	CLIP-seq
MIRT1923808	hsa-miR-500b	CLIP-seq
MIRT1923809	hsa-miR-584	CLIP-seq
MIRT1923810	hsa-miR-668	CLIP-seq
MIRT1923811	hsa-miR-873	CLIP-seq
MIRT1923807	hsa-miR-500a	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:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 17474147, 27144356
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:0010212	Process	Response to ionizing radiation	IEA
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
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	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IBA
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	IEA
GO:0045177	Component	Apical part of cell	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: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: 605459
• HGNC: 13886
• e!Ensembl: ENSG00000138075

Protein

• UniProt ID: Q9H222
• Protein name: ATP-binding cassette sub-family G member 5 (EC 7.6.2.-) (Sterolin-1)
• Protein function: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and
• PDB: 5DO7, 7JR7, 7R87, 7R88, 7R89, 7R8A, 7R8B, 8CUB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	69 → 221	ABC transporter	Domain
  PF19055	ABC2_membrane_7	250 → 362	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	366 → 580	ABC-2 type transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in the liver, lower levels in the small intestine and colon. {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11138003}.
• Sequence:

  MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC
  RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL
  RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV
  ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
  RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF
  YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD
  SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV
  GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
  IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA
  GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC
  AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR

• Sequence length: 651

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
ABCG5-related disorder	Pathogenic; Likely pathogenic	rs119479066, rs119480069	RCV003415656 RCV004752684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal circulating lipid concentration	Pathogenic	rs781098379	RCV002283584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs140111105, rs768019354, rs781098379, rs2466150084, rs145300824, rs119480069, rs754944896, rs1470569820, rs762031825	RCV004038481 RCV002382475 RCV004047564 RCV002383671 RCV003162174 RCV002326665 RCV004306864 RCV004355152 RCV002346209	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia	Pathogenic	rs781098379	RCV002282969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 15 with polydactyly	Likely pathogenic	rs2466053172	RCV003336012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia	Likely pathogenic; Pathogenic	rs370368811, rs140111105, rs780744534, rs755809709, rs781098379, rs1404218188, rs575266356, rs145300824, rs1171022283, rs119479065, rs119480069, rs2465951776, rs2465896835, rs869025350, rs1428480606, rs770488364, rs754893727, rs1344704197, rs1558738919, rs762031825	RCV005100306 RCV001379567 RCV001449803 RCV001968898 RCV001948755 RCV005096030 RCV002651457 RCV002634369 RCV003122695 RCV002578084 RCV003505078 RCV001232197 RCV002875983 RCV003022620 RCV000208063 RCV003506210 RCV003506686 RCV003611056 RCV003611425 RCV003612136 RCV003611543 RCV003505154	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762031825	RCV002245833	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia 2	Pathogenic; Likely pathogenic	rs140111105, rs145300824, rs119479065, rs119479066, rs119479067, rs119480069, rs119480070, rs754944896, rs2466053172, rs1482373824, rs387906912, rs1558738919	RCV002466677 RCV005636838 RCV000005264 RCV000005265 RCV000005266 RCV000005267 RCV000005268 RCV000005269 RCV004796795 RCV003336012 RCV003984959 RCV000023441 RCV001534613	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ 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
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	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 DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER DISEASE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemic nephropathy, familial juvenile type 4	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHOMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15980630		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11099417, 15044450, 15175362, 19005228, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11099417, 15044450, 15175362, 19005228, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	11138003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	33228147	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	27291889	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	40629026	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	27291889		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12865730, 17976197, 19306529		★☆☆☆☆ Found in Text Mining only
Cerebral artery atherosclerosis	Cerebral artery atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17626266, 18522623, 22869156, 28268212, 31169656, 31251986		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	17612515, 17626266, 18457353, 18522623, 20497293, 22869156, 24256507, 24498041, 24657701, 24811295, 27981300, 28268212, 31169656, 31251986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	20497293, 23406058, 24256507, 24657701, 27203212, 27981300, 36981027, 37914780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesterol gallstones	Cholesterol gallstones	BEFREE	22898925, 28268212		★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31641224		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20135722	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	11099417, 11138003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24691589		★★☆☆☆ 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, 11138003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	15375183, 21966275, 32702746, 32862661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	19217458, 24691589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	19060911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	24691589, 29800275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	26088706		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26088706		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35730985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26088706, 26345803, 27701660		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	23404124		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	CTD_human_DG	19060911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eyelid Xanthoma	Eyelid Xanthoma	BEFREE	28696550		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	ORPHANET_DG	20172523		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	27170062	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30206662		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	18007013	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallstones	Gallstones	Pubtator	23406058, 24256507, 24657701, 32702746	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	22213168		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	23340007		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24166850	Associate	★☆☆☆☆ Found in Text Mining only
Homozygous familial hypercholesterolemia	Homozygous Hypercholesterolemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	14703505, 18522623		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia	Hypercholesterolemia	Pubtator	14703505, 32641618, 32713907, 35705271, 35730985, 36991406, 38122934	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia	Hypercholesterolemia	BEFREE	15175362, 18522623, 19012522, 29066094, 30985648		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	20172523, 25414277, 29066094		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	19917453		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	14703505, 20172523, 25414277, 30269829, 31327807, 31901240, 32759540, 33994402, 34011801, 36648309, 38122934	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	20172523, 25414277, 29066094		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	HPO_DG			★☆☆☆☆ 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
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	CTD_human_DG	11138003		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25683935	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	24623560, 28696550, 29984642		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia-Stomatocytosis, Mediterranean	Macrothrombocytopenia-Stomatocytosis	CTD_human_DG	11099417, 11138003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	22919386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25864488		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15175352		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24657701		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24657701, 37914780	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	19360318, 30120929		★☆☆☆☆ 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
Prostate carcinoma	Prostate cancer	BEFREE	25864488		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	22919386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25864488	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	20135722	Associate	★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	BEFREE	11099417, 11264985, 11668628, 12911117, 15375183, 16029460, 16507104, 17785700, 17976197, 18441155, 19111681, 20034695, 20521169, 20543520, 21664501, 23180829, 23926302, 24623560, 25056759, 26813946, 26892138, 28383515, 28696550, 28771437, 30007774, 30782472, 30985648		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	CTD_human_DG	11099417, 11138003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	UNIPROT_DG	11138003, 11452359, 11668628, 15054092		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	ORPHANET_DG	11138003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	Pubtator	14769702, 15375183, 16507104, 20719861, 22297561, 24166850, 26813946, 27170062, 29055934, 31327807, 31901240, 32641618, 32713907, 32862661, 33217855, 33228147, 34887220, 35730985	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	GENOMICS_ENGLAND_DG	16741293, 27291889		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia	Sitosterolemia	CLINVAR_DG	17228349, 17976197, 19111681, 20521169, 20719861, 21729603, 24166850, 24423340, 25665839, 26813946, 28521186, 29353225, 29886606		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	BEFREE	24623560		★☆☆☆☆ 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
Thrombophilia Hereditary Due To Protein S Deficiency Autosomal Dominant	Thrombophilia	Pubtator	32862661	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous xanthoma	Tuberous xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31641224		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	CTD_human_DG	11138003		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	25056759, 28696550, 30985648		★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	CTD_human_DG	11138003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis	Xanthomatosis	Pubtator	22297561, 34887220	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations