APOB (apolipoprotein B)

Gene

• Entrez ID: 338
• Gene name: Apolipoprotein B
• Gene symbol: APOB
• Synonyms (NCBI Gene): FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48
• Chromosome: 2
• Chromosome location: 2p24.1
• Summary: This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs693	G>A	Likely-benign, benign, benign-likely-benign, drug-response	Synonymous variant, coding sequence variant
rs1799812	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs1800480	G>A,C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs1801696	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801698	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801700	G>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs2163204	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs5742904	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs6413458	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs12713558	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs12713843	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs12714097	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs12720810	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs41291161	A>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs61741164	T>A,C,G	Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61741974	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs61742247	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653061	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72653071	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs72653073	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs72653093	G>A	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs72653095	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653098	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs72653100	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76202659	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs121918383	G>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs121918384	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918385	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918386	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918387	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918388	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918389	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918390	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121918391	A>T	Pathogenic	Stop gained, coding sequence variant
rs138157751	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs142448733	C>A,T	Uncertain-significance, likely-benign, benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143269114	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs143301836	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs144023029	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144034290	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144040999	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs144467873	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145142090	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145777339	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145862664	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146538280	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs147510760	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs148170480	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs148502464	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs149306841	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150312765	G>A,C	Likely-benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs186299244	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186544754	C>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200623857	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200768300	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs201736972	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs281865425	TTGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs368278927	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs368825685	A>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs370481987	T>C	Pathogenic	Coding sequence variant, missense variant
rs376103623	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906569	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs397514255	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514256	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs533755016	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541497967	TCA>-	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, inframe deletion
rs562574661	CTG>-	Likely-benign, likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs574725520	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs575505383	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs587776852	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231236	->CC	Pathogenic	Coding sequence variant, splice acceptor variant
rs730880052	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs747606537	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs748143305	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs756209187	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs759934326	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs760832994	AT>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs762028704	T>C	Pathogenic	Coding sequence variant, missense variant
rs766243954	C>A	Pathogenic	Coding sequence variant, stop gained
rs771015234	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs775345377	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs776107514	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045253	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853970	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853973	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039829	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs933777198	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs935792706	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057518647	CCCGGTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1168594259	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1215189537	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1220363895	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1339117465	A>G	Pathogenic	Missense variant, coding sequence variant
rs1382988295	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1399892057	C>T	Pathogenic	Splice acceptor variant
rs1418775778	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1442815965	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1553382295	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553382300	T>G	Pathogenic	Coding sequence variant, missense variant
rs1553382319	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382325	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553382326	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382678	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553383017	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553383473	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553383898	A>C	Pathogenic	Stop gained, coding sequence variant
rs1553383931	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553384177	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1553384441	TAGCATACATAT>CCTAAG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553385404	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1553385715	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558560212	C>G	Likely-pathogenic	Splice acceptor variant
rs1558564161	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558565733	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1572785480	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799173	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799243	GGTTAGTTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572800245	T>C	Pathogenic	Splice acceptor variant
rs1572801523	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572802096	TCTGTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
FOXA1	Activation	8441395
HNF4A	Unknown	1639815
NR2F1	Unknown	1639815
NR2F6	Unknown	1639815
PPARA	Activation	11925428
PPARA	Repression	16542871
PPARG	Repression	16542871

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	8245722, 16203724, 21911577, 22580899, 24447298, 25108285, 26224785, 27138255, 27487388
GO:0005543	Function	Phospholipid binding	IDA	7126555
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	26224785
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005737	Component	Cytoplasm	IDA	22580899
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006642	Process	Triglyceride mobilization	IBA
GO:0006642	Process	Triglyceride mobilization	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008201	Function	Heparin binding	IDA	16233946
GO:0008201	Function	Heparin binding	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	2563166
GO:0009566	Process	Fertilization	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0009791	Process	Post-embryonic development	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IDA	17244792, 18322245, 19114110
GO:0010884	Process	Positive regulation of lipid storage	IDA	18322245
GO:0010886	Process	Positive regulation of cholesterol storage	IDA	19114110
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0030301	Process	Cholesterol transport	IBA
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	IMP	2563166
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031904	Component	Endosome lumen	TAS
GO:0033344	Process	Cholesterol efflux	IEA
GO:0034359	Component	Mature chylomicron	IBA
GO:0034359	Component	Mature chylomicron	IDA	4363408
GO:0034360	Component	Chylomicron remnant	TAS	6099394
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	4363408, 15308631
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034361	Component	Very-low-density lipoprotein particle	TAS	27477018
GO:0034362	Component	Low-density lipoprotein particle	IBA
GO:0034362	Component	Low-density lipoprotein particle	IDA	4363408
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	TAS	27477018
GO:0034363	Component	Intermediate-density lipoprotein particle	IDA	1917954
GO:0034374	Process	Low-density lipoprotein particle remodeling	IMP	15797858
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IC	15308631
GO:0034383	Process	Low-density lipoprotein particle clearance	IMP	2563166, 15797858
GO:0035473	Function	Lipase binding	IPI	9685400
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042159	Process	Lipoprotein catabolic process	IEA
GO:0042627	Component	Chylomicron	IDA	4363408, 8245722
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	2563166
GO:0042953	Process	Lipoprotein transport	IBA
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043025	Component	Neuronal cell body	IDA	22897442
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	7853698
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IEA
GO:0048018	Function	Receptor ligand activity	IDA	27477018
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IBA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IMP	2563166, 15797858
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	27477018
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	27138255
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IMP	15797858
GO:1904646	Process	Cellular response to amyloid-beta	IDA	23459077, 29518356

Other IDs

• MIM: 107730
• HGNC: 603
• e!Ensembl: ENSG00000084674

Protein

• UniProt ID: P04114
• Protein name: Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)]
• Protein function: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
• PDB: 9BD1, 9BD8, 9BDE, 9BDT, 9COO, 9E9R, 9EA7, 9EAG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01347	Vitellogenin_N	46 → 598	Lipoprotein amino terminal region	Family
  PF09172	DUF1943	632 → 938	Domain of unknown function (DUF1943)	Domain
  PF06448	DUF1081	960 → 1071	Domain of Unknown Function (DUF1081)	Family
  PF12491	ApoB100_C	4494 → 4550	Apolipoprotein B100 C terminal	Family

• Sequence:

  MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAES
  SSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKNSE
  EFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLD
  TVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLIS
  SSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFG
  EGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSD
  EAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKRVHANPLLIDVVTYLVALIPE
  PSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTG
  DEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKD
  QEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANI
  LNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLI
  FDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPTLEALFGKQGFFPDSVNKALY
  WVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRIL
  GEELGFASLHDLQLLGKLLLMGARTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPT
  GAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQ
  MNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENR
  QSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTRLELELRPTGEIEQYSVSATY
  ELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVN
  DESTEGKTSYRLTLDIQNKKITEVALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAH
  WSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDY
  PKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKE
  FNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPA
  LHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTST
  DHFSLRARYHMKADSVVDLLSYNVQGSGETTYDHKNTFTLSYDGSLRHKFLDSNIKFSHV
  EKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGT
  YGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTAS
  LKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLN
  SHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGA
  SMKLTTNGRFREHNAKFSLDGKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSN
  DMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSD
  LKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQ
  GVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALW
  GEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGT
  WKLKTQFNNNEYSQDLDAYNTKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDAL
  EMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLK
  HINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIAL
  DDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRV
  NLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQH
  LAGKLKQHIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAK
  VHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDA
  VKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELP
  QKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTR
  DRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKAL
  VEQGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIK
  IPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED
  IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYS
  ILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPKIN
  PLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQ
  LTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEG
  THESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHS
  VLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRF
  PLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEAHVGINGE
  ANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKN
  KHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHD
  ELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILP
  SLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQS
  DIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSNKFVEGSHNSTVSLTTKN
  MEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHK
  LSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDD
  IWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALV
  QVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLD
  IAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLRVSTAFVYTKNPNGYSFS
  IPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFA
  LNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDL
  NAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSA
  SLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEE
  DGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTSAASPAVGTVGMDMDEDDDFS
  KWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGV
  LYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGT
  YQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFP
  RFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKH
  KLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQDLLQFIFQLIEDNIKQLKEM
  KFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQY
  IMALREEYFDPSIVGWTVKYYELEEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQV
  EQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQ
  DFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELT
  IIL

• Sequence length: 4563

Pathways

KEGG:

Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis

Reactome:

Cell surface interactions at the vascular wall
Scavenging by Class B Receptors
Scavenging by Class A Receptors
Scavenging by Class F Receptors
Scavenging by Class H Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Platelet sensitization by LDL
Regulation of TLR by endogenous ligand
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Chylomicron clearance
LDL clearance
LDL remodeling
VLDL clearance
Retinoid metabolism and transport

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
APOB-related disorder	Likely pathogenic; Pathogenic	rs1663118269, rs2465397269, rs5742904, rs756209187, rs1553383017, rs144467873	RCV004738380 RCV004534395 RCV004528126 RCV004737572 RCV004527617 RCV002243681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs142066904, rs1663118269, rs2103354801, rs746483297, rs1663246215, rs5742904, rs756209187, rs144467873, rs1663384393	RCV002386560 RCV003163923 RCV006352485 RCV004654025 RCV005455887 RCV002399330 RCV004023361 RCV002399350 RCV002374949	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early-onset coronary artery disease	Pathogenic; Likely pathogenic	rs2465413489, rs1215189537	RCV002510455 RCV004702257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs2465374787, rs2465368367, rs121918386, rs5742904, rs1356095864, rs144467873	RCV002505925 RCV003581944 RCV001181782 RCV000771116 RCV004556984 RCV000780859	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypobetalipoproteinemia	Pathogenic; Likely pathogenic	rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs759934326, rs1553383898, rs1553384177, rs1553384441, rs1553385404	RCV000019470 RCV000019471 RCV000019472 RCV000019473 RCV000019474 RCV000019476 RCV000019477 RCV000019478 RCV000019481 RCV000019483 RCV000019484 RCV000019485 RCV000019487 RCV000032601 RCV000508859 RCV000508719 RCV000508819 RCV000508881 RCV000508826	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypobetalipoproteinemia 1	Likely pathogenic; Pathogenic	rs1663984693, rs1663150812, rs2103352794, rs1271191797, rs2103355244, rs2103357111, rs2103388847, rs2103380592, rs2103362763, rs142066904, rs1663118269, rs2103356720, rs2103384749, rs867418897, rs1188654362, rs2103354225, rs2103350572, rs2103354801, rs776671066, rs2103354942, rs2103351967, rs2103387447, rs2103355239, rs192004342, rs144892654, rs2103350639, rs2103352410, rs1572795820, rs2103383976, rs2103352780, rs2465438688, rs2465370870, rs2465425936, rs1663270865, rs779190356, rs2465371313, rs779776455, rs2465370629, rs746483297, rs2465365058, rs2465432746, rs1382988295, rs2465357914, rs2465388342, rs2465371960, rs1558269982, rs143301836, rs878853973, rs2465432680, rs2465391637, rs2465463570, rs1663149096, rs1663126920, rs1286460200, rs2465368920, rs2465413229, rs376032650, rs2465358719, rs1473455368, rs2465438693, rs2465369830, rs1663129046, rs1663296303, rs2465426269, rs1043381693, rs986986719, rs2465441803, rs2465374342, rs2465363561, rs2465459066, rs2465381618, rs2465362877, rs2465367585, rs2465374686, rs2465362511, rs2465369854, rs1663246215, rs760203474, rs1663556957, rs2465357289, rs2465359220, rs281865425, rs121918383, rs121918384, rs121918386, rs5742904, rs121918387, rs121918388, rs121918390, rs587776852, rs1572800245, rs121918391, rs1356095864, rs1057518647, rs766243954, rs1553383931, rs142017360, rs756209187, rs1553384177, rs1399892057, rs982371659, rs144467873, rs1220363895, rs1215189537, rs1553383473, rs1558560212, rs1558564161, rs368825685, rs775345377, rs1572801523, rs146538280, rs1572785480, rs1168594259, rs1572799173, rs1663184094, rs923192918, rs1663321162, rs1663384393, rs267599184, rs1663151257, rs1282116285, rs1441446862, rs1186975248, rs147863759, rs1663355633, rs373251374, rs1663298665, rs778476070, rs1663245097, rs1663117641, rs1663772190	RCV003804776 RCV001838502 RCV001838515 RCV001838518 RCV001838516 RCV001838517 RCV001528109 RCV001730045 RCV002541154 RCV002503267 RCV002482307 RCV003778404 RCV002506836 RCV001993744 RCV001905738 RCV001989672 RCV001950824 RCV001935547 RCV001937498 RCV001894915 RCV002000159 RCV001942133 RCV001913310 RCV001946876 RCV001956243 RCV001972773 RCV001959961 RCV001918189 RCV001948021 RCV002048485 RCV003089207 RCV002283885 RCV002468491 RCV002651441 RCV002647825 RCV002597801 RCV002666713 RCV002706069 RCV002790782 RCV002770446 RCV002917839 RCV002881790 RCV003011036 RCV003010299 RCV003025931 RCV003047950 RCV003058123 RCV001248959 RCV000227662 RCV005406656 RCV003314324 RCV003333618 RCV003785568 RCV003786250 RCV003781581 RCV003784259 RCV003781969 RCV003780969 RCV003780971 RCV003780972 RCV003789903 RCV003787079 RCV003790576 RCV003784442 RCV003784939 RCV003785191 RCV003798242 RCV003794125 RCV003806107 RCV003806502 RCV003807000 RCV003803493 RCV003798916 RCV003800442 RCV003808477 RCV003808545 RCV003809215 RCV003804898 RCV003804909 RCV003802321 RCV003812348 RCV003810247 RCV003810309 RCV001837436 RCV001851946 RCV002513122 RCV001851947 RCV000851289 RCV002496419 RCV001837438 RCV001027451 RCV001851948 RCV001851949 RCV001837442 RCV005220949 RCV000415324 RCV000470253 RCV000470110 RCV002524065 RCV001248960 RCV001837941 RCV005222982 RCV001837954 RCV000546905 RCV001814190 RCV001837444 RCV003767846 RCV001838025 RCV001838020 RCV001838117 RCV001838098 RCV001838109 RCV001027455 RCV001838217 RCV001837448 RCV001027452 RCV001027457 RCV001027458 RCV001838355 RCV001838348 RCV001838344 RCV001838358 RCV005219322 RCV001175120 RCV002560011 RCV001875998 RCV002559769 RCV003227929 RCV002558787 RCV003792668 RCV001196670 RCV001838455 RCV001838453 RCV001838432 RCV001838457	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Homozygous familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs5742904, rs144467873	RCV000844612 RCV000844613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic; Pathogenic	rs1663984693, rs1663150812, rs2103352794, rs1271191797, rs2103355244, rs2103357111, rs2103388847, rs2103350703, rs2103362763, rs142066904, rs1663118269, rs2103356720, rs2103384749, rs867418897, rs1188654362, rs2103354225, rs2103350572, rs2103354801, rs776671066, rs2103354942, rs2103351967, rs2103387447, rs2103355239, rs192004342, rs144892654, rs2103350639, rs2103352410, rs1572795820, rs2103383976, rs2103352780, rs2103346437, rs1558562316, rs2103389975, rs773475226, rs730880052, rs2465370870, rs2465425936, rs1663270865, rs2465421714, rs779190356, rs2465371313, rs779776455, rs2465370629, rs746483297, rs2465365058, rs2465432746, rs1382988295, rs2465357914, rs2465388342, rs2465371960, rs1558269982, rs878853973, rs2465463570, rs1663149096, rs1663126920, rs1286460200, rs2465368920, rs2465413229, rs376032650, rs2465358719, rs1473455368, rs2465438693, rs2465369830, rs1663129046, rs1663296303, rs2465426269, rs1043381693, rs986986719, rs2465441803, rs2465374342, rs2465363561, rs2465459066, rs2465381618, rs2465362877, rs2465367585, rs2465374686, rs2465362511, rs2465369854, rs1663246215, rs760203474, rs1663556957, rs2465357289, rs2465359220, rs2465368117, rs281865425, rs121918383, rs121918384, rs121918386, rs5742904, rs121918387, rs121918390, rs587776852, rs1572800245, rs121918391, rs769836306, rs1356095864, rs766243954, rs1553383931, rs142017360, rs756209187, rs1553383017, rs1553384177, rs1399892057, rs982371659, rs144467873, rs1220363895, rs1215189537, rs1553383473, rs1558560212, rs1558564161, rs368825685, rs775345377, rs1572801523, rs146538280, rs1663184094, rs923192918, rs1663321162, rs1663384393, rs267599184, rs1663151257, rs1282116285, rs1441446862, rs1186975248, rs147863759, rs1663355633, rs373251374, rs778476070, rs1663245097, rs1663117641, rs1663772190, rs773255823, rs1422346794	RCV003804776 RCV001838502 RCV001838515 RCV001838518 RCV001838516 RCV001838517 RCV001873727 RCV001730059 RCV002541154 RCV002503267 RCV001814604 RCV003778404 RCV002506836 RCV001993744 RCV001905738 RCV001989672 RCV001950824 RCV001935547 RCV001937498 RCV001894915 RCV002000159 RCV001942133 RCV001913310 RCV001946876 RCV001956243 RCV001972773 RCV001959961 RCV001918189 RCV001948021 RCV002048485 RCV003089207 RCV002249252 RCV002249253 RCV002249255 RCV002466286 RCV000157117 RCV002468491 RCV002651441 RCV002647825 RCV002512474 RCV002597801 RCV002666713 RCV002706069 RCV002790782 RCV002770446 RCV002917839 RCV002881790 RCV003011036 RCV003010299 RCV003025931 RCV003047950 RCV003058123 RCV001837786 RCV003333617 RCV003785568 RCV003786250 RCV003781581 RCV003784259 RCV003781969 RCV003780969 RCV003780971 RCV003780972 RCV003789903 RCV003787079 RCV003790576 RCV003784442 RCV003784939 RCV003785191 RCV003798242 RCV003794125 RCV003806107 RCV003806502 RCV003807000 RCV003803493 RCV003798916 RCV003800442 RCV003808477 RCV003808545 RCV003809215 RCV003804898 RCV003804909 RCV003802321 RCV003812348 RCV003810247 RCV003810309 RCV004006241 RCV001837436 RCV001851946 RCV002513122 RCV001851947 RCV000412515 RCV002496419 RCV001837439 RCV001851948 RCV001851949 RCV001851950 RCV004556928 RCV005220949 RCV001837905 RCV001837914 RCV002524065 RCV001837939 RCV001837941 RCV005222982 RCV000511036 RCV001837954 RCV001837953 RCV003767336 RCV000231844 RCV003767846 RCV001838025 RCV001838020 RCV001838117 RCV001838098 RCV001838109 RCV001838187 RCV001838217 RCV001837448 RCV001838355 RCV001838348 RCV001838344 RCV001838358 RCV005219322 RCV001875772 RCV002560011 RCV001875998 RCV002559769 RCV003227929 RCV002558787 RCV003792668 RCV001838455 RCV001838453 RCV001838432 RCV001838457 RCV001254112 RCV001262468	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, familial, 1	Pathogenic; Likely pathogenic	rs886039829, rs5742904, rs1135402766, rs142017360, rs1135402765, rs1135402764, rs1135402762, rs1382988295, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs1553385404, rs1553385715, rs144467873, rs1572802096, rs1235521190, rs1664202070, rs1663251692	RCV000256308 RCV000019479 RCV000497198 RCV000497128 RCV000497038 RCV000497055 RCV000497176 RCV000505259 RCV000508735 RCV000508777 RCV000508877 RCV000508784 RCV000508958 RCV000508925 RCV000508738 RCV000408839 RCV000986595 RCV001255939 RCV001255938 RCV001256748	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypobetalipoproteinemia	Likely pathogenic; Pathogenic	rs144892654, rs797045253, rs2465365058, rs143301836, rs2465463570, rs2465364633, rs2465380748, rs5742904, rs1057518647, rs1553382678, rs756209187, rs145143533	RCV004017887 RCV000193633 RCV004017953 RCV000218762 RCV004017983 RCV004018328 RCV004018330 RCV000499833 RCV000853310 RCV000503226 RCV000501647 RCV004017789	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMENORRHEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOB POLYMORPHISM IN SIGNAL PEPTIDE	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA WITH VITAMIN E DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BINGE EATING	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STENOSIS OF AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	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
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia, autosomal dominant, 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL, 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE II	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated systolic hypertension	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ 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
Muscle AMP deaminase deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutrophilia in presence of infection	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triangular shaped proximal phalanx of the thumb	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warfarin response	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	10946006, 11940084, 14741197, 15910857, 17275380, 1731805, 18027103, 18492086, 1860638, 19056372, 2065927, 2179443, 22236406, 2295628, 2339706, 23507868, 23556456, 24139731, 2429992, 25552696, 27487388, 28514664, 29540175, 31253576, 3653634, 3782476, 3975124, 8111381, 8361539, 8533758, 8770313, 8808765, 9467817, 9716144		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	1860638, 1939657, 2339706, 2429992, 27179706, 28514664, 2903181, 34078172, 3782476, 7229035, 8533758, 8770313, 8808765, 8939939	Associate	★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	LHGDN	19056372		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	23556456	Inhibit	★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	CLINVAR_DG	10388479, 11115503, 11238294, 15797858, 16250003, 17570373, 18222178, 18325181, 20032471, 21059979, 21376320, 21868016, 22095935, 22294733, 22855658, 23375686, 23936638, 24234650, 24507775, 2563166, 26415676, 27206935, 7627691, 8468533, 9105560, 9191540, 9702952		★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	UNIPROT_DG	12551903, 21981844, 27206948		★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	GENOMICS_ENGLAND_DG	25414277, 27604308		★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	28733173		★☆☆☆☆ Found in Text Mining only
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	19122170		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28992985		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28677336, 31123322		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	31527586		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28120565		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	12547700, 15654125, 19324038, 19698799, 21613373, 29097185		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28943632, 31135820, 34459398, 35011591, 36114174, 39923073	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	7609909		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	31135820		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30805717		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28437840		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34518331	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39923073	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29556328		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	26025476	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	38265339	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	26025476, 30779793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	BEFREE	1505982		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30206226		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	30920679, 31546923		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	29514644		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	LHGDN	11903341		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21855833, 29246959, 31407609		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29514644		★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	36008935	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10079097, 10588944, 10852956, 11074075, 11551138, 11590210, 11737238, 11876490, 12615679, 12615681, 1493642, 15223114, 15308601, 1542261, 15451805, 16005883, 16129816, 16677655, 16750687, 1685318, 1685948, 17214995, 17277381, 17457002, 17702862, 17848425, 18096825, 18336235, 18421000, 18783480, 19200547, 20167655, 20360257, 21778422, 22062970, 22348914, 23102786, 23345063, 2351870, 23788760, 25359861, 26673204, 26821946, 2778934, 27872105, 28019668, 28087520, 28144944, 28191321, 28280493, 28336556, 28711866, 28824646, 28826575, 2905687, 29272977, 29317346, 29370999, 29545349, 29572351, 29609749, 29932463, 29997115, 30018722, 30067832, 30771700, 31017809, 31043469, 31119518, 31366908, 31592794, 3759943, 7585299, 7906211, 8004802, 8876155, 9327769, 9539774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	29997113		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	34996506	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	7794039	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	34996506	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30789151		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18458655, 23043354	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	31311983	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	CTD_human_DG	18458655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	10079097, 10588944, 10852956, 11074075, 11551138, 11590210, 11737238, 11876490, 12547700, 12615679, 12615681, 1493642, 15223114, 15308601, 1542261, 15451805, 16005883, 16129816, 16677655, 16750687, 1685318, 1685948, 17214995, 17277381, 17457002, 17702862, 17848425, 18096825, 18336235, 18421000, 18783480, 19200547, 20167655, 20360257, 21778422, 22062970, 22348914, 23102786, 23345063, 2351870, 23788760, 25359861, 26673204, 26821946, 2778934, 27872105, 28019668, 28087520, 28144944, 28191321, 28280493, 28336556, 28502501, 28711866, 28824646, 28826575, 2905687, 29272977, 29317346, 29324459, 29370999, 29402296, 29545349, 29572351, 29609748, 29609749, 29932463, 29997115, 30018722, 30067832, 30447089, 30595507, 30771700, 31017809, 31043469, 31119518, 31311555, 31366908, 31592794, 3759943, 7585299, 7906211, 8004802, 8876155, 9327769, 9539774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	11579088, 11815617, 16201717, 19282639, 20334678, 2079601, 2351870, 24069429, 26459191, 2885324, 29162127, 29574070, 30242056, 32130292, 33640328, 34773460, 34849601, 35440891, 36542145, 36769130, 37477701, 37517561, 3759943, 39428345, 7662714, 8063810, 9463319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	18258526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	34587962	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	10205269, 16250003, 17566095, 17964958, 19191301, 19319977, 19747803, 20145306, 20571503, 20809525, 21382890, 21722902, 22095935, 22534770, 22910581, 23064986, 23375686, 28502508, 29386597, 30293936		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34504056	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34504056	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29617672, 34539672	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26404905		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	31527586		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	12074830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22952051, 31626149		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	10634824		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	18296645		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile Duct Neoplasms	LHGDN	18296645		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	18296645	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	24882193, 30315151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24882193, 30315151	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases Metabolic	Bone disease	Pubtator	23556456	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24106285, 7508006	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18668212, 23444115, 27602762, 28701570, 29254484		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26682542, 34105210	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	36757497	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	24882193		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	3165376		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	39193372	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15123606, 18550891, 23723369, 28622513, 29514927, 35637248, 35998012, 40180213, 8602361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36970060	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26459911		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30206226, 32243098	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31140607	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	14634011		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33860048	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10332687, 10961094, 12492446, 12589187, 12942366, 15451805, 15805152, 16432543, 17214995, 18720348, 19168552, 19200547, 23320904, 23393390, 24585268, 25359861, 27919364, 28191321, 28296203, 28356275, 28434480, 28506386, 28521623, 28673045, 28774484, 28792141, 28830468, 28992985, 29254484, 29588316, 29665821, 29939848, 30688048, 30694319, 30744645, 30755447, 30813431, 30842592, 30867375, 31045584, 31145122, 31146372, 31227914, 31243439, 31472752, 31642874, 31753787, 8546746, 9734729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15543563, 15805152, 17953518, 21080476, 23468263, 26842615, 28219664, 29776362, 30298424, 31882500, 31903889, 32430061, 33686948, 36197256, 36380121, 36769130, 8943493	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16544732, 17002798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17890784	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	LHGDN	18684539		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	15358600, 16677655, 21642693, 28826575, 9514419		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	17214995		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	33686948	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	36769130	Stimulate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	30594773		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19344897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23043354	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral artery atherosclerosis	Cerebral artery atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19934556		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	19934556, 27554116, 32891149, 32981134, 39889961	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24151447, 28982360, 32644829, 36066144	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	32981134	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	12011770, 17595251		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12624708, 18701171, 26363640, 28191321, 30842592, 31479420		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	10529757, 11590210, 17595251		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26722417		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25914233		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26722417		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18296645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17696941, 20082485, 20503456, 23637837, 7616125		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	17696941, 20082485, 20503456, 22922093, 23637837, 7616125		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	10845572, 14618390, 17350490, 20872969		★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	2215607		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	36197256	Associate	★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	25575569		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16586068, 31119518		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19282863, 29572081		★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	26025476		★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron retention disease	Pubtator	19713673, 22104167	Associate	★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron Retention Disease	BEFREE	22104167, 29540175, 31253576		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	23694813, 8550047		★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	19060634		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	23001979	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28054633		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31043469, 34135129	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8441395	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28710487		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30542696, 31300050, 36864816	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	31117816		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10720441, 10738520, 10781757, 10873614, 11005141, 11028773, 11071065, 11096445, 11748351, 12640502, 12642786, 12730697, 12752570, 1352974, 1362695, 1418918, 1477972, 15172466, 15321838, 16316917, 1674237, 17032131, 1732399, 1789809, 18254714, 19319977, 1967524, 20715976, 21657943, 22507620, 22698793, 23054246, 23171143, 2351870, 24201112, 2434069, 2452042, 25070550, 26537298, 27112212, 27172140, 27637205, 28191321, 28506386, 28830468, 2904569, 2905687, 29246959, 2976021, 3024002, 30447089, 30522787, 30779793, 30939045, 31365087, 3141025, 7533671, 7834891, 7910546, 7936858, 8141833, 8185133, 8187228, 8349099, 8529610, 8530010, 8533758, 8546754, 9125314, 9298741, 9339897, 9402091, 9585673, 9727746, 9863550		★★☆☆☆ 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	BEFREE	10208998, 10383084, 10488959, 10592684, 10720441, 10738520, 10781757, 10873614, 10958870, 11005141, 11028773, 11071065, 11074075, 11096445, 11168027, 11748351, 12640502, 12642786, 12730697, 12752570, 1362695, 1418918, 1477972, 15321838, 15543563, 16316917, 17032131, 1732399, 1789809, 18254714, 19319977, 1967524, 19698799, 20050287, 20715976, 21657943, 22116284, 22507620, 22698793, 23054246, 23171143, 2351870, 24201112, 2434069, 24925974, 25070550, 25470794, 26537298, 27112212, 27172140, 27487947, 27637205, 28125987, 28167353, 28191321, 28506386, 28705542, 28739396, 28830468, 28982360, 2904569, 2905687, 29246959, 29730953, 2976021, 29846435, 3024002, 30447089, 30594773, 30779793, 30939045, 31365087, 3141025, 7533671, 7825589, 7910546, 7936858, 8141833, 8185133, 8187228, 8349099, 8447257, 8529610, 8530010, 8533758, 8546754, 8579620, 9125314, 9254062, 9298741, 9339897, 9402091, 9489234, 9521335, 9585673, 9693941, 9708657, 9863550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	10803441, 11748351, 12640502, 12754559, 12964943, 16316917, 16594908, 19014618, 20334678, 20715976, 21059979, 21889313, 22507620, 22834788, 24530664, 24552169, 25134189, 26415676, 26946290, 28167353, 28982360, 33130851, 34139859, 34313350, 34815491, 36574567, 36870196, 37848354, 38241044, 39244851, 39445733, 40135555, 9254062, 9339897, 9799092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	12752570, 12818419, 16007035, 16316917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	10484616, 11170229, 11230170, 17142622, 17890784, 19336475, 19494537, 20412465, 21804106, 23054246, 23468263, 2351870, 27112212, 27554116, 28213390, 28320750, 29362515, 30694319, 30939045, 31931463, 34341098, 34729547, 35045726, 36691918, 37941911, 38102060, 38233012, 39322327, 7883971, 8533758	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	11290835	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	10463820, 10484616, 10499189, 10720441, 10738520, 10781757, 10873614, 10886297, 11005141, 11028773, 11071065, 11748351, 12640502, 12642786, 12730697, 12752570, 1346774, 1362695, 1418918, 1477972, 15321838, 16179285, 16316917, 17032131, 17142622, 1732399, 17379005, 1789809, 18254714, 19319977, 19494537, 1967524, 2064632, 20715976, 21657943, 21804106, 22244043, 22507620, 22698793, 23054246, 23171143, 2351870, 23653095, 24201112, 2434069, 25070550, 26537298, 26892959, 27112212, 27172140, 27554116, 27637205, 27829582, 28174174, 28191321, 28320750, 28506386, 28775061, 28830468, 28846118, 2904569, 2905687, 2923577, 29246959, 29370999, 2976021, 29800275, 29807048, 3024002, 30447089, 30664505, 30694319, 30779793, 30939045, 31365087, 3141025, 7533671, 7910546, 7936858, 8141833, 8185133, 8187228, 8349099, 8370148, 8529610, 8530010, 8533758, 8546754, 9125314, 9298741, 9339897, 9402091, 9539312, 9585673, 9863550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	17277381, 17890784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	17658632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary Stenosis	BEFREE	22854712		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	33787603	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25250685, 8014581	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26636822	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20972885	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29081697, 9681639		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	9681639		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28054633, 31635762		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31794826		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10588944, 20116212, 26025476, 28125987, 28363581, 28441156, 31804627		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34665686, 39428345	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10588944, 12387587, 20116212, 26025476, 27561427, 28125987, 28320750, 28363581, 28441156, 31804627, 9402091, 9543100, 9714141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	12444310, 12867534, 26025476, 34729547, 34996506, 36499290, 37517561, 37914804, 40016689	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	20855567	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	14746565, 21497351, 29617380, 30535058, 34729547, 34789800, 34805411, 35317787, 35732646, 37914804, 39511203	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11869298, 12658909, 14746565, 15541048, 16419488, 16634094, 1685948, 2064632, 21497351, 23053881, 24362726, 2562831, 27868359, 27868366, 27940375, 28035522, 28072742, 28792141, 29367471, 29370144, 29374794, 29617380, 29731826, 29883758, 29948331, 30026275, 30157689, 30170220, 30524197, 30905491, 31305643, 31305653, 7657029, 8261646, 8750763, 8817108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	23879411	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17462654		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31371129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	10636265	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29197606		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	12547700		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	34929494	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	22913027		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	10735834, 10781757, 11096445, 12181212, 16343038, 17288985, 18512131, 20940286, 21418033, 23247049, 23921547, 24334831, 24704626, 25292352, 25837208, 26345861, 28109622, 28168401, 29126409, 29381796, 29506984, 29574070, 29800275, 29970255, 31706300, 7802728, 9177423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	Pubtator	10803441, 16343038, 22896670, 25292352, 25587205, 25897955, 27054361, 29126409, 29574070, 3001697, 31833377, 32401924, 3464946, 35317787, 36197256, 37582372, 40114142, 40180213, 6631214	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	LHGDN	17462654, 19020660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	CTD_human_DG	18230960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic Disorders	Dystonia	Pubtator	15485476	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	23053881		★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36371157	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis Familial 2	Erythrocytosis	Pubtator	26025476	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10205247, 17672218		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	36197256	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	15355439		★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	BEFREE	3401027, 7059063		★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	CLINVAR_DG	10208479, 10388479, 10529757, 10735632, 11115503, 11137107, 11238294, 11494965, 11781700, 11833852, 1360085, 1466657, 17142622, 17539906, 17765246, 1793440, 17964958, 18028451, 18096825, 18700895, 1977310, 20145306, 20236128, 20538126, 20809525, 21310417, 21376320, 21657943, 22244043, 22294733, 22353362, 22408029, 22698793, 22883975, 23054246, 23064986, 23130880, 23375686, 24234650, 24507774, 24784157, 24987033, 25461735, 2563166, 26036859, 7627691, 8254047, 8318993, 8371062, 8723684, 8831935, 9104431, 9191540, 9339363, 9654205, 9702952		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	15637307, 20227758, 22963620, 24632267, 24870549, 25552696, 2715722, 27784735, 28154305, 28388428, 29396260, 29576406, 30795984, 9626156, 9650011		★☆☆☆☆ Found in Text Mining only
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	10064308, 10224159, 10224165, 10559016, 10807747, 10893242, 11019990, 11590210, 11893777, 12124991, 12551903, 12562873, 12872264, 1424233, 14967820, 1527480, 15308601, 15585207, 15805152, 15818469, 15877300, 15894400, 15910857, 1619363, 1619387, 16390683, 16619215, 17158591, 17170371, 17213276, 17570373, 17588943, 1770316, 18027103, 18848826, 19060634, 19084451, 19344897, 19773654, 1995762, 20032471, 2022744, 21122650, 21502677, 22155345, 22658148, 23043934, 23694813, 25618028, 26073401, 2614276, 26323024, 26612772, 26916057, 27179706, 27804036, 28733173, 3399894, 3473077, 7749818, 8311419, 9101440, 9284903, 9508071, 9543100, 9555937		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial LCAT deficiency	LCAT Deficiency	BEFREE	12957688, 29748187		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26404905		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	11590210, 11893777, 14967820, 15877300, 16971390, 17158591, 17884438, 18848826, 22443280, 23723369, 25552696, 26409295, 28733173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	11893777, 14732481, 14967820, 23723369, 27054361, 31000363, 33454241, 35413066, 35457099, 40065360, 40180213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	12048068, 17303181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	11019990, 19084451, 19817962, 28062946		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	1568667		★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	29748187		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	26643808, 34539672	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	14618390, 17696941, 23637837		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	14618390		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20082485	Inhibit	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20082485	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	20082485, 20503456, 7616125	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	GWASCAT_DG	31527586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	15133863, 17350490		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29513714		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29513714	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29513714		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37511514	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	25912321		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	11757580		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	11757580		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	25432151	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	8944430	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	30135250		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	2351870, 8529610, 9501464		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	2351870, 26636822, 34729547, 36114174	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25528061, 39809209	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC LIPASE DEFICIENCY (disorder)	HEPATIC LIPASE DEFICIENCY	BEFREE	15910863		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	36098309	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	18393287	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	23001979, 28018102	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	1472017, 21874758, 2742871, 2828430, 31253576		★☆☆☆☆ Found in Text Mining only
HMG CoA lyase deficiency	HMG CoA Lyase Deficiency	BEFREE	15910863		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30956097		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	31816062	Associate	★☆☆☆☆ Found in Text Mining only
Homozygous familial hypercholesterolemia	Homozygous Hypercholesterolemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform Mole	BEFREE	2066110		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	2066110		★☆☆☆☆ Found in Text Mining only
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	BEFREE	2215607		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	10357843, 10388479, 10487480, 10529757, 10894819, 10952765, 11028773, 11031227, 11170232, 11568510, 11833852, 12492446, 1453124, 15772090, 15797858, 16030169, 17658498, 18022922, 18160469, 18222178, 19330934, 1936106, 1977530, 20145306, 20506408, 2215607, 2280177, 22893714, 23247049, 2434069, 25614280, 2563166, 27014949, 27497240, 28388428, 28862926, 29081697, 29653812, 30270084, 30315151, 30513715, 30905828, 31302760, 31767518, 7685667, 7833952, 7878058, 7969202, 8004802, 8141833, 8624773, 8767447, 8767453, 8888978, 9105560, 9191540, 9254062, 9299944, 9430367, 9598833, 9603795		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	Pubtator	10357843, 10677305, 11170232, 11483625, 15061621, 15797858, 1977310, 1993649, 25292352, 2563166, 30266833, 30315151, 33128957, 35741760, 37108800, 37848354, 39445733, 4363408, 7693760, 7883971, 9254062, 9603795	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	LHGDN	11833852, 12942366, 18222178		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	CTD_human_DG	1600334		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG	23433573, 25414277		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	22398274		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	10357843, 10529757, 10669652, 10735834, 10745045, 10894819, 11005141, 11031227, 11040093, 11137107, 11737238, 11833852, 11923121, 11947895, 12208478, 12492446, 12519372, 12730724, 14615272, 14967814, 15099351, 15200491, 15485476, 15530918, 15772090, 15890894, 16159606, 16314194, 16502360, 16596945, 16776623, 16792510, 16828905, 1684620, 17087781, 17142622, 17274457, 17347910, 17924833, 18400033, 18757057, 1940775, 20019594, 20073037, 20217239, 20506408, 20529551, 20538126, 20736250, 20864670, 21310417, 21364743, 21527752, 22220933, 22244043, 22353362, 223591, 22544571, 22653811, 22698793, 23537714, 23593297, 23743768, 23775634, 24234650, 24249837, 24420163, 25414277, 25542072, 25612857, 2567693, 26020417, 26165249, 26643808, 26671881, 26892515, 27062410, 27206942, 27578116, 27804036, 27824480, 27919345, 27932355, 28104544, 28242176, 28405938, 28619117, 28839185, 28873201, 28965614, 2906824, 29127338, 29213121, 29269200, 29374275, 29389714, 29665449, 29720182, 30093300, 30270060, 30270084, 30306860, 30308187, 30415195, 30507093, 30681615, 30710474, 30876527, 30949068, 31327807, 31345425, 3141689, 7554246, 7638555, 8187228, 8370148, 8844215, 8888978, 9050776, 9081691, 9254062, 9507998, 9626156, 9654205, 9712531, 9727746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	CTD_human_DG	10952765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	CLINVAR_DG	10952765, 11115503, 11494965, 11781700, 17160438, 22353362, 23375686, 24987033, 2563166, 26036859, 27783906, 9603795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	LHGDN	14967814, 16776623, 17194460, 17964958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	23433573, 25414277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B	Hypercholesterolemia	CLINGEN_DG	15135245, 22408029, 24234650, 24498611, 2563166, 3477815, 7627691, 8134359, 9486979, 9603795		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	12658909, 25911071, 27868359		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21574779, 29917037		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	11096445, 11551138, 15687407, 177296, 19409916, 20133978, 22348914, 23546960, 24201112, 24405372, 27749649, 28336556, 28902930, 29859480, 30026275, 30842592, 31725952, 3401027, 7627691, 7670750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	LHGDN	15135245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	CTD_human_DG	17658632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	10205279, 12560593, 16106049, 17127808, 19335919, 19834104, 19965785, 20383777, 31725952, 8678927, 9157945, 9683593	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	10958645, 11988495, 12370850, 15308552, 15687407, 15731490, 1575822, 16432543, 16828905, 1688059, 1761202, 17972059, 19007590, 1975179, 19965785, 2004437, 20383777, 22330738, 2369363, 24308640, 2497719, 2778934, 29190549, 29970255, 31599081, 31725952, 7738184, 8100834, 8224806, 8345411, 8447257, 8487493, 8724114, 9157945, 9157946, 9543550, 9683593		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	17698072		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	12923233, 23468263, 23546960, 28902930, 2901432, 8063810, 8263419	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	10946020	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	22095987, 28951076, 30183397, 8447257		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	22095987	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	10205269, 10357843, 10984082, 11170232, 11179013, 11483625, 11574954, 14967814, 15701167, 16594908, 1684620, 17694954, 1770302, 17964958, 19007590, 20571503, 20809525, 21146822, 23064986, 23468263, 23535506, 23537714, 23593297, 25035151, 25414277, 25962062, 26020417, 26361156, 26415676, 26802169, 26892515, 2715722, 27824480, 28104544, 28428224, 28619117, 28772107, 28873201, 29213121, 29261184, 29374275, 29386597, 29396260, 29561990, 30270359, 30592178, 30593551, 30637778, 30681615, 30971288, 31106297, 31345425, 31427613, 31653860, 31767518, 31932084, 3200853, 32459195, 32489792, 32606442, 32759540, 33096472, 33268660, 33418990, 33601267, 33892292, 33994402, 34011801, 34297352, 34407635, 35052492, 35300601, 36011335, 36167182, 36173399, 36226792, 36648309, 37108800, 37137225, 37185657, 37217153, 37477701, 37565868, 37853441, 38122934, 39244851, 7883971, 7989875, 8006512, 8371062, 8509718, 8978490, 9026529, 9507998, 9603795, 9925662	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	17200715, 22653811	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10357843, 10529757, 10669652, 10894819, 10978257, 11005141, 11031227, 11040093, 11137107, 11297603, 11833852, 11923121, 11947895, 12208478, 12519372, 12730697, 12730724, 14615272, 14967814, 15099351, 15530918, 15767856, 15890894, 16159606, 16250003, 16314194, 16407292, 16596945, 16776623, 16792510, 16828905, 17274457, 17566095, 17924833, 17964958, 18400033, 18710658, 18757057, 19191301, 19319977, 19747803, 20019594, 20144596, 20145306, 20217239, 20506408, 20529551, 20538126, 20809525, 20864670, 21310417, 21364743, 21527752, 2164382, 21722902, 22095935, 22220933, 22244043, 22353362, 22417841, 22534770, 22544571, 22653811, 22698793, 22910581, 22949395, 23064986, 23537714, 23593297, 23743768, 23775634, 24249837, 24420163, 25278291, 25414277, 25612857, 2567693, 26020417, 26165249, 26671881, 26892515, 27062410, 27206942, 27578116, 27804036, 27824480, 27919345, 27919364, 27932355, 28104544, 28242176, 28619117, 28839185, 28873201, 28965614, 2906824, 29127338, 29213121, 29269200, 29374275, 29389714, 29665449, 29720182, 30093300, 30270060, 30270075, 30293936, 30308187, 30415195, 30507093, 30681615, 30710474, 30876527, 30949068, 31327807, 31345425, 7554246, 8187228, 8370148, 8844215, 9050776, 9081691, 9254062, 9507998, 9626156, 9654205, 9712531, 9727746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CTD_human_DG	10952765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CLINVAR_DG	27765764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	CLINVAR_DG	10388479, 11115503, 11238294, 15797858, 16250003, 17570373, 18222178, 18325181, 20032471, 21059979, 21376320, 21862702, 21868016, 22095935, 22294733, 22855658, 23375686, 23936638, 24234650, 24507775, 2563166, 26415676, 27206935, 7627691, 8468533, 9105560, 9191540, 9702952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	BEFREE	10795369, 10984082, 12079884, 16502360, 1684620, 1845776, 2004437, 209911, 2280177, 2563166, 2778934, 27919345, 28988723, 7638555, 7850988, 8006512, 8141833, 8187806, 8215738, 8224806, 8371062, 8380363, 8447257, 8474308, 8509718, 8723684, 8724114, 8767448, 8767450, 9081691, 9259199, 9360938, 9430367, 9727746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	CTD_human_DG	10952765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	CLINGEN_DG	15135245, 22408029, 24234650, 24498611, 2563166, 3477815, 7627691, 8134359, 9486979, 9603795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	UNIPROT_DG	21382890, 2563166, 7883971, 9259199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG	23433573, 25414277, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	BEFREE	1493642, 24314366, 24405372, 30318453, 30538126, 31642874, 6824496		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	37685967	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	BEFREE	16828905, 8076943		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	Pubtator	33588820	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	201398, 27859540, 30789151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemias	Hyperlipoproteinemia	Pubtator	7985674	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	18801202, 19772655, 25587205, 29208002, 32401924, 34729547, 34996506, 36197256, 36769130, 37517561	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10488959, 12624708, 15543563, 16516587, 18496130, 23354981, 26415088, 29081697, 29208002, 30233306, 30317431, 31809516, 9693941		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	7633941		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	11483625, 20657596, 22095987, 23001979, 29208002, 32115487, 4363408, 8063810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	25432151	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	7802728		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	22658148	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 1	Hypoalphalipoproteinemia	Pubtator	28633452, 3473077	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 2	Hypoalphalipoproteinemia	Pubtator	1619363	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial Apolipoprotein B	Hypoalphalipoproteinemia	Pubtator	15102883	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia, Familial, Apolipoprotein B	Apolipoprotein B deficiency	CTD_human_DG	2567736, 2843815, 3473077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemia, Familial, Apolipoprotein B	Apolipoprotein B deficiency	BEFREE	7878058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	10064308, 10224159, 10224165, 10559016, 10807747, 11019990, 11590210, 12124991, 12809841, 12872264, 1424233, 1431583, 1454832, 1472017, 14732481, 1527480, 15308601, 15797858, 1602000, 1619363, 17170371, 1770316, 18848826, 19084451, 19344897, 1940616, 19773654, 20032471, 2022744, 21874758, 22155345, 22247256, 22658148, 2312735, 24781598, 25430706, 2567736, 2574033, 26073401, 2614276, 26323024, 26612772, 27179706, 28733173, 2901434, 31117816, 31253576, 3399894, 3473077, 3821506, 7878058, 8263419, 8311419, 8354962, 8460149, 8468533, 8770313, 8792774, 9101440, 9508071, 9543100, 9555937, 9714141, 9812913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	10224159, 10224165, 11590210, 11688825, 11893777, 12551903, 1431583, 14732481, 14967820, 1527480, 15797858, 1602000, 1619363, 17588943, 1770316, 17890784, 1940616, 20032471, 2022744, 21502677, 22658148, 2312735, 2567736, 2614276, 26323024, 26916057, 27179706, 2828430, 2901434, 29540175, 30939045, 32093271, 3473077, 35457099, 37718180, 7229035, 8014581, 8263419, 8354962, 8468533, 8732784, 8770313, 9101440	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	LHGDN	11940084, 12124991, 12551903, 12872264, 15585207, 15797858, 17158591, 19056372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	19562718, 33207932	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	CLINVAR_DG	24751931, 25335495		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Hypocholesterolemia	BEFREE	17043676, 18160469, 18710658, 19060634, 23723369, 24842304, 27206948, 31215050		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	8100826		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31160422		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28054633, 30664505		★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	20407020	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33588072	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	14967820, 26553260, 29698057, 29946054, 31903889, 8100834	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24142110	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36746221	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	29557746		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	29385837	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17595251, 19934556, 23121297, 26004908, 27554116, 28865324, 28982360, 29416768, 30842592, 31076261, 9262053		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	8731088		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	8731088	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	8432847	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16586068, 31119518		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17462654		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29127648		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	11040093, 15308552, 16390683, 19773654, 25248404, 26617857, 28030378		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	1338569, 1348933, 14767876, 18720348, 25278690, 30429453, 30881047, 31322199, 3165376, 7583570, 7749860, 8906589, 9512534		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	1568667, 23001979	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19060634, 23694813, 8550047		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40065360	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1338569, 1348933, 14767876, 3165376, 7583570, 7749860, 8906589, 9512534		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36089134	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29617672, 33640328, 35999016	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28168401		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18182060, 20598021	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	39497194	Inhibit	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28223106		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	18027103, 19056372, 26612772, 31253576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18668212, 23444115, 27602762, 28701570, 29254484		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	14618390, 17696941, 20082485, 23637837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26459911		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25568919, 28320750, 28698210, 28710487, 28977491, 30256094, 30693645		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26722417		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10064308, 9555937		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	2404717		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31635762		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31691188		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22074108, 31215050		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	40180213	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19713673	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	21393584, 25671620, 31903889, 32430061, 34016094, 34219465, 36499290, 40481456	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15536220, 15547295, 16343038, 16574762, 16828905, 18701171, 18988892, 19642912, 21122859, 21393584, 23921547, 26775176, 27720273, 28285655, 28413474, 28677336, 28792141, 29493859, 29574070, 29626232, 30170220, 30652427, 8826978		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	22399527		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31782770		★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	18504305		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31387987		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31387987	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35135578	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10592684, 11208426, 11223436, 1428260, 15256516, 16801176, 1685318, 18160469, 18590467, 18609106, 21071687, 24386469, 25083581, 27683205, 3024002, 30522787, 3092050, 30971288, 31076261, 31754844, 7906211, 8021052, 8096136, 8428755, 8530010, 9105565, 9693941, 9863550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12011770, 12818419, 16007035, 16801176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	23067240, 23697869, 24386469, 27683205, 30298424, 30694319, 30971288, 34773460	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	12942366, 15172466, 16030169, 1674237, 18160469, 21071687, 2452042, 26859812, 30522787, 8004802, 9603795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	LHGDN	12942366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	33927215, 9603795	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	12630069		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29581109, 30881047, 31300050, 31835137, 9633945		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	15827892, 8731088		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	34511173, 8731088	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	37511514	Stimulate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31397093	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28695418		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36197256, 39461112	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	LHGDN	11727199		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	Hypercholesterolemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	15894400, 25278690, 28106941, 28641782, 29947103, 30744645		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	19817962, 23694813		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	BEFREE	11834528, 11988495, 15731490, 16432543, 17157483, 19007590, 9683593		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10706596, 15547300, 15635487, 15731490, 1685948, 18031309, 18565099, 18848826, 20541607, 23921547, 24842304, 2497719, 25108206, 25837208, 27210509, 28294290, 28631820, 2904569, 29917037, 30755447, 8275568, 8826978		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	10706596, 12055319, 19772655, 20855567, 20930716, 28974732, 34805411, 34975757, 35317787, 36197256, 37517561, 40114142, 9553735, 9741687	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11500319	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	9741687	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	29950685	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35405941	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	35405941	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	35405941	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	20413671	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	25248404	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29170526, 34745121, 34997982	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	25387265		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28943632	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30233306, 31828903		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29127648, 29776362		★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	32093271	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	18248365, 34805411	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28233905		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34805411	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	34139859, 39304430	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	11208426, 1676938, 23053881, 2564329, 2895658, 30594773, 8105730		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	11208426, 1676938, 23053881, 2564329, 2895658, 8105730		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	7883971	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25956367, 28051891, 28413474, 28937295, 30524197		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25956367, 28937295, 29636060	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32482257	Stimulate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31645664		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	30325733		★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29081697, 9681639		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	22952051	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25963774, 30771700		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22835076, 24118377, 28573499		★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28242600	Associate	★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	30779793		★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15541048, 29091568		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	1424233		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22174202, 29997113, 31694752		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31185305	Associate	★☆☆☆☆ Found in Text Mining only
Riboflavin Deficiency	Riboflavin Deficiency	LHGDN	15867268		★☆☆☆☆ Found in Text Mining only
Riboflavin Deficiency	Riboflavin deficiency	Pubtator	15867268	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34135129	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21113081		★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	BEFREE	29998912		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	24232699	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28935145		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	12397634		★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	LHGDN	12397634		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30135250		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28365443, 31807530		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32775421, 37013557, 37686462	Associate	★☆☆☆☆ Found in Text Mining only
Steatocystoma multiplex	Steatocystomas	BEFREE	1997645		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	11590210, 11893777, 14967820, 15877300, 16971390, 17158591, 17884438, 18848826, 19817962, 22443280, 23723369, 24201112, 25552696, 26409295, 27222915, 28733173, 8550047		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	12048068, 17303181		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32176636, 36430456	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34729547	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11689226, 1701170		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29934874		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	30071080		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	27729560		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	28540474	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31311983	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30565661		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38127052	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29385837		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	39809209	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23631828, 29028944, 31233191	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	29950685	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	15243216, 16792510, 19168552, 19409916		★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	28540474	Associate	★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	3401027, 7059063		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	Pubtator	1797940, 23468263	Associate	★☆☆☆☆ Found in Text Mining only