ATF6 (activating transcription factor 6)

Gene

• Entrez ID: 22926
• Gene name: Activating transcription factor 6
• Gene symbol: ATF6
• Synonyms (NCBI Gene): ACHM7, ATF6A, ATP6alpha
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs367613392	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs749537392	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs761129859	G>A,C	Pathogenic	Intron variant
rs761357250	C>T	Pathogenic	Coding sequence variant, missense variant
rs765383904	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs796065053	T>A	Pathogenic	Missense variant, coding sequence variant
rs797045171	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045172	G>C	Pathogenic	Splice donor variant
rs797045173	->C	Pathogenic	Coding sequence variant, frameshift variant
rs797045174	->A	Pathogenic	Coding sequence variant, frameshift variant
rs869320751	->G	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553227755	->G	Pathogenic	Coding sequence variant, splice acceptor variant
rs1558022158	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1571134523	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571143590	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000658	hsa-miR-424-5p	Luciferase reporter assay	19956200
MIRT000650	hsa-miR-503-5p	Luciferase reporter assay	19956200
MIRT019158	hsa-miR-335-5p	Microarray	18185580
MIRT045796	hsa-miR-191-5p	CLASH	23622248
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23598416
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23313552
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23313552
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT615644	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT615643	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT615642	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT615641	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT615640	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT615639	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615638	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT615637	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT615636	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT615635	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT615634	hsa-miR-3689c	HITS-CLIP	23824327
MIRT615633	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT615632	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23313552
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23313552
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT615644	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT615643	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT615642	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT615641	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT615640	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT615639	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615638	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT615637	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT615636	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT615635	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT615634	hsa-miR-3689c	HITS-CLIP	23824327
MIRT615633	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT615632	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT804369	hsa-miR-1909	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804371	hsa-miR-221	CLIP-seq
MIRT804372	hsa-miR-222	CLIP-seq
MIRT804373	hsa-miR-3064-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT804376	hsa-miR-3605-5p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT804391	hsa-miR-4776-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq
MIRT804397	hsa-miR-765	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT2480452	hsa-miR-1238	CLIP-seq
MIRT2480453	hsa-miR-1272	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT2480454	hsa-miR-22	CLIP-seq
MIRT2480455	hsa-miR-3121-3p	CLIP-seq
MIRT2480456	hsa-miR-3124-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT2480457	hsa-miR-3132	CLIP-seq
MIRT2480458	hsa-miR-3160-5p	CLIP-seq
MIRT2480459	hsa-miR-3180-5p	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT2480460	hsa-miR-338-3p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2480461	hsa-miR-3714	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT2480462	hsa-miR-4530	CLIP-seq
MIRT2480463	hsa-miR-4659a-3p	CLIP-seq
MIRT2480464	hsa-miR-4659b-3p	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT2480465	hsa-miR-4691-5p	CLIP-seq
MIRT2480466	hsa-miR-4694-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT2480467	hsa-miR-4778-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2480468	hsa-miR-520f	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT2480469	hsa-miR-646	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT2480453	hsa-miR-1272	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT804369	hsa-miR-1909	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT2480454	hsa-miR-22	CLIP-seq
MIRT2480455	hsa-miR-3121-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT2480457	hsa-miR-3132	CLIP-seq
MIRT2480458	hsa-miR-3160-5p	CLIP-seq
MIRT2480459	hsa-miR-3180-5p	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT2480460	hsa-miR-338-3p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2480461	hsa-miR-3714	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT2480462	hsa-miR-4530	CLIP-seq
MIRT2480463	hsa-miR-4659a-3p	CLIP-seq
MIRT2480464	hsa-miR-4659b-3p	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT2480466	hsa-miR-4694-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT2480467	hsa-miR-4778-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2480468	hsa-miR-520f	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT2480469	hsa-miR-646	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16469704
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11779464
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24269637
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14973138
GO:0001654	Process	Eye development	IMP	26029869
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11163209
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9271374, 10564271
GO:0005515	Function	Protein binding	IPI	16469704, 19543265, 20102225, 22682248, 23661758, 27238082
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11163209, 11256944, 16236796
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758
GO:0005634	Component	Nucleus	TAS	10564271, 22013210
GO:0005635	Component	Nuclear envelope	TAS	10866666
GO:0005654	Component	Nucleoplasm	TAS	10866666
GO:0005783	Component	Endoplasmic reticulum	IDA	11256944, 16236796
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10564271
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	11256944
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	16236796
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10564271
GO:0006457	Process	Protein folding	TAS	10564271
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007165	Process	Signal transduction	TAS	9271374
GO:0007601	Process	Visual perception	IMP	26029869
GO:0010508	Process	Positive regulation of autophagy	IMP	28747345
GO:0016020	Component	Membrane	IDA	11163209
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	11163209
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	11163209, 11256944, 16469704
GO:0034976	Process	Response to endoplasmic reticulum stress	TAS	22013210
GO:0036500	Process	ATF6-mediated unfolded protein response	IEA
GO:0036500	Process	ATF6-mediated unfolded protein response	NAS	32046286
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22013210
GO:0036503	Process	ERAD pathway	NAS	17765680
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758, 25609649
GO:0043065	Process	Positive regulation of apoptotic process	IDA	14752510
GO:0043565	Function	Sequence-specific DNA binding	IDA	28473536
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11163209, 11256944, 14973138, 16469704
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	22013210
GO:0046982	Function	Protein heterodimerization activity	IPI	16469704
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	23661758
GO:1903891	Process	Regulation of ATF6-mediated unfolded protein response	IEA
GO:1903893	Process	Positive regulation of ATF6-mediated unfolded protein response	IDA	9837962
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 605537
• HGNC: 791
• e!Ensembl: ENSG00000118217

Protein

• UniProt ID: P18850
• Protein name: Cyclic AMP-dependent transcription factor ATF-6 alpha (cAMP-dependent transcription factor ATF-6 alpha) (Activating transcription factor 6 alpha) (ATF6-alpha) [Cleaved into: Processed cyclic AMP-dependent transcription factor ATF-6 alpha]
• Protein function: [Cyclic AMP-dependent transcription factor ATF-6 alpha]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00170	bZIP_1	305 → 367	bZIP transcription factor	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9271374}.
• Sequence:

  MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNL
  DFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEE
  LDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQ
  PKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTV
  VQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNV
  GSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLD
  EVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLG
  FSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLN
  HELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGS
  ELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAINI
  NENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATH
  VVSTIPESLQ

• Sequence length: 670

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Lipid and atherosclerosis

Reactome:

ATF6 (ATF6-alpha) activates chaperones
ATF6 (ATF6-alpha) activates chaperone genes

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
Achromatopsia	Likely pathogenic; Pathogenic	rs765383904, rs1553227755, rs764142241	RCV000504633 RCV000608330 RCV001195419	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia 7	Pathogenic; Likely pathogenic	rs869320751, rs761357250, rs796065053, rs797045170, rs797045171, rs797045173, rs797045174, rs761129859, rs797045172, rs2525490518, rs1558022158, rs1571134523, rs1571143590, rs146640460, rs915211840, rs1685168329, rs771933147	RCV000190367 RCV000190368 RCV000190372 RCV000191035 RCV000191036 RCV000191039 RCV000191040 RCV000191037 RCV000191038 RCV003988738 RCV000723355 RCV000985102 RCV000986452 RCV003988765 RCV001255912 RCV001255913 RCV001255911	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATF6-related disorder	Pathogenic	rs761357250	RCV003390920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral sensorineural hearing impairment	Pathogenic	rs761357250, rs796065053	RCV004668839 RCV004668840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic	rs749537392	RCV000505004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic	rs1571134523	RCV004818090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASBESTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	26029869, 26063662, 27117871, 28028229, 30086303, 31237654		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	GENOMICS_ENGLAND_DG	26029869		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	CTD_human_DG	26029869		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	CLINVAR_DG	26029869		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	ORPHANET_DG	26029869, 26063662		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Achromatopsia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACHROMATOPSIA 7	Achromatopsia	GENOMICS_ENGLAND_DG	26029869		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACHROMATOPSIA 7	Achromatopsia	UNIPROT_DG	26029869, 26063662		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACHROMATOPSIA 7	Achromatopsia	CLINGEN_DG	26029869, 26063662		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACHROMATOPSIA 7	Achromatopsia	CLINVAR_DG	26029869		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACHROMATOPSIA 7	Achromatopsia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma	Adenocarcinoma	BEFREE	30121368		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28334878		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28884228		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	23478569		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29725981	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31105062		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	31105062	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22390177, 24666819, 29725981, 30740050		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29725981	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31239294	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39614150	Associate	★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	CTD_human_DG	25324550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	24623133, 28826527, 31045581		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34525218	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	25523945	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22872700, 29761862	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28748446, 29483204, 29512699, 29939407, 30426803		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21984182, 22982536		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32672418	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	25241909		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24636989	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16364319, 23924739, 28246472, 30281916, 30854665	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28629319	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34716619	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30959142		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19667116		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36012132	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26351848	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27217380, 30086303		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	37528590	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27590344		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28884228		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	28884228	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28884228	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30063110		★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	CTD_human_DG	26029869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color Blindness, Acquired	Color blindness	CTD_human_DG	26029869		★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	CTD_human_DG	26029869		★☆☆☆☆ Found in Text Mining only
Color Blindness, Inherited	Color blindness	CTD_human_DG	26029869		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red	Color blindness	CTD_human_DG	26029869		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	CTD_human_DG	26029869		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	28028229, 28812650, 30086303, 31237654, 32271167, 32913385, 34360608, 34561305, 36535406, 37372476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28884228, 30063110, 30063920		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28884228, 30063110, 35883579	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31227689	Inhibit	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26925648		★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	28479318		★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	CTD_human_DG	26029869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27932512		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26936111		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31557250	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	18022401, 38247876	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24269637		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	29436030		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29449893, 30980806, 31061237		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25302688, 32086613	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29449893, 30980806, 31061237, 31545290		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17440018, 21211013, 21841811	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16505252, 17327457, 17440018, 18450959, 21211013, 21841811, 29061071, 29626480		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22158537		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25754093		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30364130		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30086303		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	17440018		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31162820	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	24874946, 28968997		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	24874946		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29725981		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	29769338		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26716508		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26716508		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31700088		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36465658	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30086303		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30086303, 35162959	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21062387	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20732420, 26752648, 28861715, 29523177		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	20739883		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	17440018	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28423496	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23400395, 31239370		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18635891	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29581524		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	25978849		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22028783		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22028783	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21841811, 25302688	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	22189555		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27217380		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	30647798	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	30647798	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19659458	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	21355074		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12713871, 24302549, 26925648, 28629319, 30415242, 30854665		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29979959		★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	21984182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28246472		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22540830, 27718273		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29358668, 30063110, 30159133, 31312025		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30063110		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	31398886	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24240056		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	38199038	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28521868, 29449893		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	29522813		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22028791		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36606310	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30643122		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	27932512		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26091066	Stimulate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26351848	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	25978849	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	17440018	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24339898, 26046131, 28741511, 28884228, 30063920, 30159133, 30618158, 31545234		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28672279		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23913943, 25302688, 32086613	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25302688, 31689600		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26091066	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30250645, 31029032		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31029032	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36149636	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	27941872, 31506423		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30639234		★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	32571297	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28521868		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35288480	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22540830, 27718273		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22540830, 35089606, 37314749, 37715829	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23400395	Associate	★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	BEFREE	28564599		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26070061	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22956602		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22956602, 34561305	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28812650		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	24664756	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	26029869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27117871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Riboflavin Deficiency	Riboflavin deficiency	Pubtator	36014863	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	16274472		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	16274472	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37376599	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	23400395	Stimulate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24874946, 31324878		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30086303	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30036660		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28884228		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	34561305, 36535406	Associate	★☆☆☆☆ Found in Text Mining only