BAG3 (BAG cochaperone 3)

Gene

• Entrez ID: 9531
• Gene name: BAG cochaperone 3
• Gene symbol: BAG3
• Synonyms (NCBI Gene): BAG-3, BIS, CAIR-1, CMD1HH, CMT2JJ, HMND15, MFM6
• Chromosome: 10
• Chromosome location: 10q26.11
• Summary: BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs117749531	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs121918312	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs143919208	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145393807	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, coding sequence variant
rs151331972	C>A,G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, synonymous variant
rs199682693	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs200212999	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201638005	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906874	C>T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs387906875	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs387906876	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514506	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs397514507	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516881	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727502897	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs727505109	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs727505283	ACCGGCTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880055	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs751261054	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs775151738	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786205466	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728981	CTGAAAGTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025365	G>A	Likely-pathogenic	Splice donor variant
rs869248137	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs876657634	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs876661342	C>A	Pathogenic	Stop gained, coding sequence variant
rs886039044	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039182	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057517945	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518511	->GCCAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060502815	A>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1064795700	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1135402750	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1473083093	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554875409	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1554876984	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1554876999	C>G	Likely-pathogenic	Stop gained, coding sequence variant
rs1554877001	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554877037	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554877224	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1554877731	AGGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554877765	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564767043	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564773559	->TGTGTAC	Pathogenic	Frameshift variant, coding sequence variant
rs1564773589	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564774433	C>A	Pathogenic	Stop gained, coding sequence variant
rs1589628864	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589630001	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589630130	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589630141	C>T	Pathogenic	Coding sequence variant, missense variant
rs1589630173	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589632398	TAAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589632876	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029481	hsa-miR-26b-5p	Microarray	19088304
MIRT046955	hsa-miR-221-3p	CLASH	23622248
MIRT814539	hsa-miR-1283	CLIP-seq
MIRT814540	hsa-miR-129-3p	CLIP-seq
MIRT814541	hsa-miR-140-3p	CLIP-seq
MIRT814542	hsa-miR-148a	CLIP-seq
MIRT814543	hsa-miR-148b	CLIP-seq
MIRT814544	hsa-miR-152	CLIP-seq
MIRT814545	hsa-miR-198	CLIP-seq
MIRT814546	hsa-miR-2052	CLIP-seq
MIRT814547	hsa-miR-298	CLIP-seq
MIRT814548	hsa-miR-3158-5p	CLIP-seq
MIRT814549	hsa-miR-342-5p	CLIP-seq
MIRT814550	hsa-miR-3591-5p	CLIP-seq
MIRT814551	hsa-miR-371-5p	CLIP-seq
MIRT814552	hsa-miR-371b-5p	CLIP-seq
MIRT814553	hsa-miR-3925-3p	CLIP-seq
MIRT814554	hsa-miR-411	CLIP-seq
MIRT814555	hsa-miR-4255	CLIP-seq
MIRT814556	hsa-miR-4422	CLIP-seq
MIRT814557	hsa-miR-4446-3p	CLIP-seq
MIRT814558	hsa-miR-4447	CLIP-seq
MIRT814559	hsa-miR-4472	CLIP-seq
MIRT814560	hsa-miR-455-3p	CLIP-seq
MIRT814561	hsa-miR-4664-5p	CLIP-seq
MIRT814562	hsa-miR-4687-5p	CLIP-seq
MIRT814563	hsa-miR-513c	CLIP-seq
MIRT814564	hsa-miR-514b-5p	CLIP-seq
MIRT814565	hsa-miR-520a-5p	CLIP-seq
MIRT814566	hsa-miR-525-5p	CLIP-seq
MIRT814567	hsa-miR-541	CLIP-seq
MIRT814568	hsa-miR-552	CLIP-seq
MIRT814569	hsa-miR-654-5p	CLIP-seq
MIRT1940800	hsa-miR-1179	CLIP-seq
MIRT1940801	hsa-miR-1273f	CLIP-seq
MIRT814539	hsa-miR-1283	CLIP-seq
MIRT1940802	hsa-miR-135a	CLIP-seq
MIRT1940803	hsa-miR-135b	CLIP-seq
MIRT814541	hsa-miR-140-3p	CLIP-seq
MIRT1940804	hsa-miR-143	CLIP-seq
MIRT814542	hsa-miR-148a	CLIP-seq
MIRT814543	hsa-miR-148b	CLIP-seq
MIRT814544	hsa-miR-152	CLIP-seq
MIRT814545	hsa-miR-198	CLIP-seq
MIRT1940805	hsa-miR-203	CLIP-seq
MIRT814547	hsa-miR-298	CLIP-seq
MIRT814548	hsa-miR-3158-5p	CLIP-seq
MIRT1940806	hsa-miR-337-3p	CLIP-seq
MIRT814549	hsa-miR-342-5p	CLIP-seq
MIRT1940807	hsa-miR-3662	CLIP-seq
MIRT1940808	hsa-miR-3921	CLIP-seq
MIRT814553	hsa-miR-3925-3p	CLIP-seq
MIRT814554	hsa-miR-411	CLIP-seq
MIRT814557	hsa-miR-4446-3p	CLIP-seq
MIRT814558	hsa-miR-4447	CLIP-seq
MIRT814559	hsa-miR-4472	CLIP-seq
MIRT1940809	hsa-miR-4509	CLIP-seq
MIRT814560	hsa-miR-455-3p	CLIP-seq
MIRT1940810	hsa-miR-4653-5p	CLIP-seq
MIRT814561	hsa-miR-4664-5p	CLIP-seq
MIRT1940811	hsa-miR-4678	CLIP-seq
MIRT1940812	hsa-miR-4708-5p	CLIP-seq
MIRT1940813	hsa-miR-4712-3p	CLIP-seq
MIRT1940814	hsa-miR-4744	CLIP-seq
MIRT1940815	hsa-miR-4766-5p	CLIP-seq
MIRT1940816	hsa-miR-4770	CLIP-seq
MIRT814565	hsa-miR-520a-5p	CLIP-seq
MIRT814566	hsa-miR-525-5p	CLIP-seq
MIRT814567	hsa-miR-541	CLIP-seq
MIRT1940817	hsa-miR-548aa	CLIP-seq
MIRT1940818	hsa-miR-548ac	CLIP-seq
MIRT1940819	hsa-miR-548ae	CLIP-seq
MIRT1940820	hsa-miR-548aj	CLIP-seq
MIRT1940821	hsa-miR-548am	CLIP-seq
MIRT1940822	hsa-miR-548d-3p	CLIP-seq
MIRT1940823	hsa-miR-548x	CLIP-seq
MIRT1940824	hsa-miR-548z	CLIP-seq
MIRT814568	hsa-miR-552	CLIP-seq
MIRT1940825	hsa-miR-593	CLIP-seq
MIRT1940826	hsa-miR-646	CLIP-seq
MIRT814569	hsa-miR-654-5p	CLIP-seq
MIRT1940827	hsa-miR-891b	CLIP-seq
MIRT1940828	hsa-miR-944	CLIP-seq
MIRT814546	hsa-miR-2052	CLIP-seq
MIRT2179832	hsa-miR-3152-5p	CLIP-seq
MIRT2179833	hsa-miR-4774-3p	CLIP-seq
MIRT814542	hsa-miR-148a	CLIP-seq
MIRT814543	hsa-miR-148b	CLIP-seq
MIRT814544	hsa-miR-152	CLIP-seq
MIRT1940801	hsa-miR-1273f	CLIP-seq
MIRT1940804	hsa-miR-143	CLIP-seq
MIRT2483279	hsa-miR-3185	CLIP-seq
MIRT1940809	hsa-miR-4509	CLIP-seq
MIRT1940811	hsa-miR-4678	CLIP-seq
MIRT1940812	hsa-miR-4708-5p	CLIP-seq
MIRT1940813	hsa-miR-4712-3p	CLIP-seq
MIRT1940814	hsa-miR-4744	CLIP-seq
MIRT1940816	hsa-miR-4770	CLIP-seq
MIRT1940828	hsa-miR-944	CLIP-seq
MIRT1940809	hsa-miR-4509	CLIP-seq
MIRT1940811	hsa-miR-4678	CLIP-seq
MIRT1940814	hsa-miR-4744	CLIP-seq
MIRT1940828	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GTF3A	Activation	19282432
HSF1	Repression	19006120
HSF1	Unknown	20692357

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IBA
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IDA	20060297, 24318877, 30559338
GO:0001725	Component	Stress fiber	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19229298, 21044950, 21516116, 22366786, 23434281, 24318877, 24510904, 25036637, 25277244, 25416956, 26159920, 26496610, 27880917, 28144995, 28514442, 31515488, 32296183, 32707033, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26159920
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	26159920
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	10597216
GO:0005829	Component	Cytosol	TAS
GO:0006457	Process	Protein folding	IDA	30559338
GO:0006457	Process	Protein folding	NAS	9873016
GO:0006915	Process	Apoptotic process	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IDA	10597216
GO:0010658	Process	Striated muscle cell apoptotic process	IEA
GO:0010664	Process	Negative regulation of striated muscle cell apoptotic process	IBA
GO:0010664	Process	Negative regulation of striated muscle cell apoptotic process	IEA
GO:0010664	Process	Negative regulation of striated muscle cell apoptotic process	IEA
GO:0010664	Process	Negative regulation of striated muscle cell apoptotic process	IMP	19085932
GO:0016020	Component	Membrane	IBA
GO:0016235	Component	Aggresome	TAS	21681022
GO:0021510	Process	Spinal cord development	IEA
GO:0030018	Component	Z disc	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	27884606
GO:0034605	Process	Cellular response to heat	IDA	26159920
GO:0034620	Process	Cellular response to unfolded protein	IMP	18006506
GO:0036064	Component	Ciliary basal body	IDA
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	26159920
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	NAS	10597216
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045505	Function	Dynein intermediate chain binding	NAS	21252941
GO:0046716	Process	Muscle cell cellular homeostasis	IBA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IMP	19085932
GO:0046827	Process	Positive regulation of protein export from nucleus	IMP	26159920
GO:0050821	Process	Protein stabilization	IBA
GO:0050821	Process	Protein stabilization	IDA	18006506
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051087	Function	Protein-folding chaperone binding	IBA
GO:0051087	Function	Protein-folding chaperone binding	IDA	27884606, 30559338
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	18006506
GO:0061684	Process	Chaperone-mediated autophagy	IEA
GO:0070842	Process	Aggresome assembly	TAS	21681022
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0098840	Process	Protein transport along microtubule	TAS	21681022
GO:0101031	Component	Protein folding chaperone complex	IDA	18006506
GO:0140597	Function	Protein carrier chaperone	TAS	21681022
GO:1903215	Process	Negative regulation of protein targeting to mitochondrion	IEA
GO:1905337	Process	Positive regulation of aggrephagy	IMP	18006506

Other IDs

• MIM: 603883
• HGNC: 939
• e!Ensembl: ENSG00000151929

Protein

• UniProt ID: O95817
• Protein name: BAG family molecular chaperone regulator 3 (BAG-3) (Bcl-2-associated athanogene 3) (Bcl-2-binding protein Bis) (Docking protein CAIR-1)
• Protein function: Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. HSPA1A/HSP70 or HSPA8/HSC70, and small heat shock proteins (sHSPs), e.g. HSPB8 (PubMed:27884606, PubMed:3055
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00397	WW	22 → 52	WW domain	Domain
  PF02179	BAG	425 → 497	BAG domain	Family

• Sequence:

  MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPK
  ETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQ
  RFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCS
  SSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
  QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVD
  RPQQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSE
  KVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTAPAEATPPKPGEAEAPPKHP
  GVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR
  RDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAG
  NAEDPHTETQQPEATAAATSNPSSMTDTPGNPAAP

• Sequence length: 575

Pathways

Reactome:

Regulation of HSF1-mediated heat shock response

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
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs1589630141	RCV001836898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAG3-related disorder	Likely pathogenic; Pathogenic	rs2134063421, rs869248137, rs1589630141	RCV005863479 RCV004751378 RCV003392618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2134068635, rs2494009610, rs2494023519, rs2494023702, rs2493979514, rs794728981, rs121918312, rs869248137, rs876661342, rs2494014239, rs2494009026, rs2494023585, rs2494023044, rs886039044, rs886039182, rs2493980073, rs2494024121, rs1057517945, rs387906875, rs1554877224, rs117749531, rs1554875409, rs1554877001, rs1554877731, rs397516881, rs1564773559, rs199682693, rs1847126002, rs1564774668, rs1846844070, rs727502897, rs1847161579	RCV004040805 RCV002357606 RCV002421308 RCV002380971 RCV002438065 RCV002310749 RCV002362566 RCV002372225 RCV002372238 RCV003165135 RCV003177775 RCV003177779 RCV004992583 RCV000244257 RCV000252646 RCV003360745 RCV004516532 RCV002429339 RCV000247382 RCV002356687 RCV005404588 RCV002413693 RCV000617895 RCV000617169 RCV002381307 RCV004993932 RCV005400743 RCV002355011 RCV002393331 RCV003163698 RCV002379920 RCV005405556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1HH	Pathogenic; Likely pathogenic	rs765426544, rs2134069295, rs2134064943, rs2134065158, rs2134065350, rs2134065363, rs2134069248, rs1474660052, rs2134063372, rs2134063421, rs2134068813, rs143919208, rs2134068635, rs2134064890, rs2134068860, rs2134065052, rs2134050674, rs2134065136, rs2134050486, rs1847128695, rs2134069217, rs2134065278, rs1343231277, rs121918312, rs2134065084, rs727505109, rs727502897, rs1847165958, rs2494014941, rs794728981, rs2494009499, rs2493979814, rs2494009726, rs2493980164, rs2494013310, rs2494022527, rs2494009703, rs1183981489, rs1847246944, rs2494014139, rs2134065242, rs876657634, rs869248137, rs876661342, rs2494023044, rs886039182, rs1554876999, rs2494009473, rs2493980111, rs2494009729, rs2494014414, rs2494022514, rs2493979552, rs2494009217, rs2494009711, rs1057518511, rs1057517945, rs387906875, rs1589630173, rs1060502815, rs1554877224, rs117749531, rs1554876984, rs1135402750, rs1554877765, rs397514507, rs1554875409, rs1554877001, rs397516881, rs1564767043, rs1564773589, rs1564774433, rs199682693, rs1589632876, rs1589630001, rs1589630141, rs1589632398, rs1847126002, rs1564774668, rs1847236072, rs1847236575, rs756020699, rs1846844070, rs1344275862, rs1847238300, rs1847237761	RCV001377130 RCV001377808 RCV001389199 RCV001390559 RCV001381124 RCV001382796 RCV001885176 RCV001885177 RCV002034582 RCV002541180 RCV002541182 RCV005040867 RCV002541192 RCV001966129 RCV001989686 RCV001901900 RCV001903108 RCV001915154 RCV001994496 RCV001994855 RCV001951044 RCV001951173 RCV001959992 RCV001849971 RCV003774628 RCV000476824 RCV001850034 RCV002471531 RCV002471871 RCV005031722 RCV002791981 RCV002816435 RCV002857234 RCV002894548 RCV002867550 RCV000648847 RCV002938209 RCV002962034 RCV002994861 RCV002991422 RCV003011651 RCV003015069 RCV000689286 RCV000459684 RCV000463650 RCV005216024 RCV001859469 RCV003777378 RCV003807770 RCV003806443 RCV003805288 RCV003803108 RCV003796925 RCV003795076 RCV003807213 RCV003813127 RCV004555515 RCV001040522 RCV000460767 RCV000023350 RCV000023351 RCV001851120 RCV000467242 RCV000458004 RCV002525779 RCV000496997 RCV000540680 RCV000032661 RCV001245335 RCV003389249 RCV000697966 RCV000230332 RCV000686115 RCV000686092 RCV000691807 RCV001056928 RCV000790476 RCV000803352 RCV000813879 RCV002536165 RCV001045144 RCV001068892 RCV001042302 RCV001059140 RCV001046418 RCV001220639 RCV001203716 RCV001230677 RCV001230872 RCV001240816 RCV001241034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myocarditis	Likely pathogenic; Pathogenic	rs2134065084, rs869248137	RCV002204523 RCV002057163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 6	Pathogenic; Likely pathogenic	rs765426544, rs2134069295, rs2134064943, rs2134065158, rs2134065350, rs2134065363, rs2134069248, rs1474660052, rs2134063372, rs2134063421, rs2134068813, rs143919208, rs2134068635, rs2134064890, rs2134068860, rs2134065052, rs2134050674, rs2134065136, rs2134050486, rs1847128695, rs2134069217, rs2134065278, rs1343231277, rs121918312, rs2134065084, rs727505109, rs727502897, rs794728981, rs2494009499, rs2493979814, rs2494009726, rs2493980164, rs2494013310, rs2494022527, rs2494009703, rs1183981489, rs1847246944, rs2494014139, rs2134065242, rs876657634, rs869248137, rs876661342, rs2494023044, rs886039182, rs1554876999, rs2494009473, rs2493980111, rs2494009729, rs2494014414, rs2494022514, rs2493979552, rs2494009217, rs1057518511, rs1057517945, rs387906875, rs1060502815, rs1554877224, rs117749531, rs1554876984, rs1554877765, rs1554875409, rs1554877001, rs397516881, rs1564767043, rs1564773589, rs1564774433, rs199682693, rs1589630001, rs1589630141, rs1589632398, rs1847126002, rs1564774668, rs1847236072, rs1847236575, rs756020699, rs1846844070, rs1847165958, rs1344275862, rs1847238300, rs1847237761	RCV001377130 RCV001377808 RCV001389199 RCV001390559 RCV001381124 RCV001382796 RCV001885176 RCV001885177 RCV002034582 RCV002541180 RCV002541182 RCV005040867 RCV002541192 RCV001966129 RCV001989686 RCV001901900 RCV001903108 RCV001915154 RCV001994496 RCV001994855 RCV001951044 RCV001951173 RCV001959992 RCV000144684 RCV003774628 RCV000476824 RCV001850034 RCV005031722 RCV002791981 RCV002816435 RCV002857234 RCV002894548 RCV002867550 RCV000006347 RCV002938209 RCV002962034 RCV002994861 RCV002991422 RCV003011651 RCV003015069 RCV000689286 RCV000459684 RCV000463650 RCV005216024 RCV001859469 RCV003777378 RCV003807770 RCV003806443 RCV003805288 RCV003803108 RCV003796925 RCV003795076 RCV003807213 RCV003813127 RCV001040522 RCV000460767 RCV000627789 RCV001851120 RCV001384911 RCV000458004 RCV002525779 RCV000540680 RCV001245335 RCV002483674 RCV000697966 RCV000230332 RCV000686115 RCV000686092 RCV000691807 RCV001056928 RCV000803352 RCV000813879 RCV002536165 RCV001045144 RCV001068892 RCV001042302 RCV001059140 RCV001046418 RCV001220639 RCV001203716 RCV001230677 RCV001230872 RCV001240816 RCV001241034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral neuropathy	Pathogenic	rs121918312	RCV001836702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs2134068940, rs2134065084, rs727505283, rs727505109, rs727502897, rs730880055, rs869025365, rs876657634, rs869248137, rs387906875, rs1554875409, rs397516881, rs1564773559	RCV003233334 RCV002204523 RCV000156812 RCV000156562 RCV000150174 RCV000157122 RCV000208458 RCV000215570 RCV000215224 RCV000211711 RCV000615326 RCV000037887 RCV000678699	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs2134065350, rs2494014239, rs751261054, rs1589632398	RCV005237770 RCV006262741 RCV000490546 RCV000845412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ	—	ClinVar, GenCC, HPO ClinVar, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL SPINAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elevated circulating creatine kinase concentration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic right ventricular dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar myopathy	Benign; Likely benign	ClinVar CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31114230		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27456361		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35008592, 37536287	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	25149536		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27570075	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28680391		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29487711		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	31444794	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26522614, 28864347, 29114069, 30154469, 31001483		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	31119886	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	29073746		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19853632, 28655171, 29343228		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19853632, 28655171, 29343228		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	30442290, 35205406	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35205406	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	35205406	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28712363, 30718321		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22072743, 29286112, 29484408, 30256393, 30881494, 31078693, 31723063, 31808029		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	29484408		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30658245		★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	22805501		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26100943		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	34741638	Associate	★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	BEFREE	21556877		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	29073746, 29302857		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	17187345, 38212812	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25417742, 26158518, 28703799, 29462756		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12750378	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19402132, 24080088, 24997994, 25417742, 28703799, 29462756, 36228497, 37377218	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	28680390		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34215846, 37377218	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25149536, 25175321, 26232338		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24895585, 26621836	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26100943		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	22944597, 30154469, 30771383, 31119886, 35406724	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38297320	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21316839, 24992675, 27120977, 28624440, 28628188, 31423267		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25728519, 25753466, 26512958, 26796036, 27381181, 28359509, 28669108, 28724793, 28737513, 30061062, 30140897, 30442290, 30499714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	26512958, 26545904, 27443559, 28359509, 28669108, 30442290, 33874732, 35029900, 35047758, 36560844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21459883, 24623017, 25008357, 28296976, 28669108, 29961767, 30442290, 30792263, 31723063, 31983221, 32032554, 32472079, 32916098, 33874732, 33947203, 34011823, 34213952, 35205406, 36642055, 37914990, 38183888, 39744939	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35047758	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	26545904, 36560844, 39662461, 39662463, 39729860	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	21353195, 21898660, 24623017, 25008357, 25448463, 25925243, 27321750, 28211974, 28669108, 28737513, 28737514, 29323723, 30140897, 30442290, 30792263, 30932190, 31723063, 31808029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	21353195, 21459883, 22337857, 24558114, 25008357, 25448463, 25728519, 25925243, 28737513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	GWASDB_DG	21459883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	GWASCAT_DG	21459883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	Cardiomyopathy	CLINVAR_DG	19085932, 20605452, 21353195, 21361913, 2159883, 21898660, 22734908, 25008357, 25208129, 25273835, 25448463, 25728519, 26545904, 27321750, 27443559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	Cardiomyopathy	UNIPROT_DG	21353195, 21459883, 21898660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	Cardiomyopathy	GENOMICS_ENGLAND_DG	22734908, 28211974, 28754666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1HH	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	21459883, 21898660, 23686784, 24623017, 25008357, 25448463, 28211974, 28436997, 28669108, 28737513, 30140897, 30442290, 30792263, 31492659, 31723063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	29338979		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24391511, 26512958		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29221135, 29295729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29221135, 29295729		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	28224639		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27456361		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29484408		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29484408	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23978946, 31823704		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11513873, 29068469		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26577854, 30081850		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23983126, 26577854, 30081850	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21353195, 24623017, 25753466, 25925243, 26796036, 27381181, 28724793, 28737513, 29203715, 29323723, 30140897, 30442290		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35964012	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29986884		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	29986884	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25208129	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29343228, 29509708, 29605758, 29705607		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28350077		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28350077		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26337083	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30881494		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	30323775		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	32472079	Associate	★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	28402067		★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	28224639		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	17187345		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27414463		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37377218	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28628188, 31423267		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26655271		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	37914990	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	21353195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	21459883, 27391596, 28296976, 30792263, 32032554, 34498126	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	25925243, 27391596, 30792263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
GIANT AXONAL NEUROPATHY 1	Giant Axonal Neuropathy	BEFREE	22734908		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21233200, 26008975, 26541455, 27777286, 28642874		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25204229, 25483098, 27145367	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21233200, 26008975, 26541455, 27777286, 28642874		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19777443, 24080088, 25204229	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27777286		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37914990	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26464484, 39744939	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21353195, 24623017, 25753466, 25925243, 26796036, 27381181, 28724793, 28737513, 29203715, 29323723, 30140897, 30442290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	24623017	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	28359509, 31554410, 35205406, 35964012, 36642055, 38183888, 39662461, 39662463	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	38212812	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28680391		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Immune System Diseases	Immune system disease	Pubtator	37070487	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	26545904	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19681889	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19111544		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	19111544		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37070487, 39650664	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11513873, 24365746, 24895585, 26621836, 28393253		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28393253		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	26545904	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Neoplasms	Lung Neoplasms	BEFREE	25149536		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27738995		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	BEFREE	28599417		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25417742, 26158518, 28703799, 29462756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27414463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11513873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21316839, 24992675, 27120977, 28624440, 28628188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11513873, 20232307, 30154469, 30973679, 31001483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23341456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30514177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	26707573		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23108398, 24577090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26100943		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22237703, 23341456, 23876161, 23983126, 24994713, 25840992, 26100943, 27777286, 27922674, 28373462, 28680391, 30106105, 30771383		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	26707573		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29221135, 29295729		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11513873, 29068469		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27456361		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	27456361	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28393253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29343228, 29509708, 29605758, 29705607		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27768944, 29132075, 31718806		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29705607		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	19085932, 20001957, 21683594		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37671549	Associate	★☆☆☆☆ Found in Text Mining only
Muscular dystrophy, Selcen type	Muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25925243, 30326144		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	28359509	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar Myopathy	Myofibrillar myopathy	CLINGEN_DG	16936253, 19085932, 20605452, 20884878, 22734908, 25208129, 25728519, 26545904, 27443559		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	19085932, 20605452, 20664348, 21361913, 21676617, 22366786, 22734908, 25208129, 25273835, 25728519, 26342832, 26718575, 26847086, 27443559, 28224639, 28436997, 30061062		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	20605452, 21676617, 22106715, 25208129, 26718575, 26847086, 27443559, 27618136, 35029900, 35047758, 39662461, 39662463, 39729860, 39973468	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	20884878		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myofibrillar Myopathy	Myofibrillar myopathy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	BEFREE	16936253, 19085932, 25273835, 26545904, 26718575, 28442482, 28680391, 28737513, 29405094, 30061062, 30559338		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	30442290	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Bag3-Related	Myofibrillar myopathy	CLINVAR_DG	19085932, 20605452, 21353195, 21361913, 2159883, 21676617, 21898660, 22734908, 25008357, 25208129, 25273835, 25448463, 25728519, 26545904, 27321750, 27443559		★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Bag3-Related	Myofibrillar myopathy	ORPHANET_DG	19085932		★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Bag3-Related	Myofibrillar myopathy	UNIPROT_DG	19085932, 21361913, 21898660		★☆☆☆☆ Found in Text Mining only
Myopathy, Myofibrillar, Bag3-Related	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	19085932, 20605452, 20884878, 22734908, 28211974, 28754666		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19402132, 24895585, 25149536, 25175321, 26522614, 26621836, 27777286, 28393253, 29484407, 29484408, 29644001, 29926854, 30081850, 31139326		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	26545904, 32472079	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18469860, 26158518		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25361773	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33158300, 35008592	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27321750, 28680391		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22734908, 26545904		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21971866		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26337083		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21316839, 24992675, 27120977, 28624440, 28628188		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34111434	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35935940, 37377218	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	23341456		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11513873, 20232307, 30154469, 30973679, 31001483		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26522614, 28864347, 29114069, 30154469, 30771383, 30973679, 31001483, 31119886		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	11513873, 30973679		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11513873, 22944597, 26337083, 30154469, 30771383, 31657880	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	31119886	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28320196, 28941726, 30991086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	30957308, 40715263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	39973468	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	25208129, 26545904, 35047758, 39662461, 39662463	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	25208129		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	23647975		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	37377218	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23341456		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20535599, 23341456, 36891298	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33469280	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	26545904		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	26545904, 29338979		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25471019		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25766331		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	25766331	Associate	★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	27443559	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	23876161		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	29343228, 31803098		★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	28373462		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	22734908		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	20392858		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25149536		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25149536		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26655271		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30514177		★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	29217724		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	24492285		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23108398, 24577090, 29113311		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22072743, 23108398, 24577090		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24080088, 24577090	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19464832		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23341456, 29462756, 29644001, 31139326		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29462756	Associate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	25361773	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25175321, 31444794, 37377218	Associate	★☆☆☆☆ Found in Text Mining only