DST (dystonin)

Gene

• Entrez ID: 667
• Gene name: Dystonin
• Gene symbol: DST
• Synonyms (NCBI Gene): BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, MACF2
• Chromosome: 6
• Chromosome location: 6p12.1
• Summary: This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34767818	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs113432929	T>A	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs138553142	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs141573097	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs143101723	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs149007397	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs150845451	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs151271595	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs183804748	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, genic upstream transcript variant, downstream transcript variant, coding sequence variant
rs186813964	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201045495	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs201429821	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs370887046	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs373440035	T>C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, intron variant
rs375889300	C>A,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs376491126	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs398122819	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398122943	T>A,C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, intron variant
rs577972555	G>A,C,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, intron variant, missense variant, genic upstream transcript variant, stop gained
rs748845919	A>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs748899221	TTCT>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs759006806	->T	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs770035646	G>A,C	Pathogenic	Intron variant, coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs772099949	->T	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs774625619	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs775912185	A>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs778397331	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs893650971	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1057524203	G>A	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1242078669	G>A,C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1310802903	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1330945347	C>A,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1341890249	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1454639285	T>A	Uncertain-significance, likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1562435373	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1584328172	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1587154269	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018347	hsa-miR-335-5p	Microarray	18185580
MIRT024665	hsa-miR-215-5p	Microarray	19074876
MIRT026612	hsa-miR-192-5p	Microarray	19074876
MIRT028321	hsa-miR-32-5p	Sequencing	20371350
MIRT050193	hsa-miR-26a-5p	CLASH	23622248
MIRT046995	hsa-miR-218-5p	CLASH	23622248
MIRT042022	hsa-miR-484	CLASH	23622248
MIRT040309	hsa-miR-615-3p	CLASH	23622248
MIRT704101	hsa-miR-553	HITS-CLIP	23313552
MIRT704100	hsa-miR-203b-5p	HITS-CLIP	23313552
MIRT704099	hsa-miR-6718-5p	HITS-CLIP	23313552
MIRT704098	hsa-miR-140-5p	HITS-CLIP	23313552
MIRT704097	hsa-miR-3119	HITS-CLIP	23313552
MIRT704096	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT704095	hsa-miR-4460	HITS-CLIP	23313552
MIRT537937	hsa-miR-548p	PAR-CLIP	22012620
MIRT537936	hsa-miR-8063	PAR-CLIP	22012620
MIRT537935	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT537934	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT537933	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT361124	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT537932	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT537931	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT537930	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT537929	hsa-miR-107	PAR-CLIP	22012620
MIRT537928	hsa-miR-6882-3p	PAR-CLIP	22012620
MIRT537927	hsa-miR-500a-3p	PAR-CLIP	22012620
MIRT537926	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT537925	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT537924	hsa-miR-5047	PAR-CLIP	22012620
MIRT440775	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440773	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440772	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440771	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT440770	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440775	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440773	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440772	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440771	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT440770	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT704101	hsa-miR-553	HITS-CLIP	23313552
MIRT704100	hsa-miR-203b-5p	HITS-CLIP	23313552
MIRT704099	hsa-miR-6718-5p	HITS-CLIP	23313552
MIRT704098	hsa-miR-140-5p	HITS-CLIP	23313552
MIRT704097	hsa-miR-3119	HITS-CLIP	23313552
MIRT704096	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT704095	hsa-miR-4460	HITS-CLIP	23313552
MIRT537937	hsa-miR-548p	PAR-CLIP	22012620
MIRT537936	hsa-miR-8063	PAR-CLIP	22012620
MIRT537935	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT537934	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT537933	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT361124	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT537932	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT537931	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT537930	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT537929	hsa-miR-107	PAR-CLIP	22012620
MIRT537928	hsa-miR-6882-3p	PAR-CLIP	22012620
MIRT537927	hsa-miR-500a-3p	PAR-CLIP	22012620
MIRT537926	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT537925	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT537924	hsa-miR-5047	PAR-CLIP	22012620
MIRT946269	hsa-miR-1298	CLIP-seq
MIRT946270	hsa-miR-130a	CLIP-seq
MIRT946271	hsa-miR-130b	CLIP-seq
MIRT946272	hsa-miR-301a	CLIP-seq
MIRT946273	hsa-miR-301b	CLIP-seq
MIRT946274	hsa-miR-30a	CLIP-seq
MIRT946275	hsa-miR-30b	CLIP-seq
MIRT946276	hsa-miR-30c	CLIP-seq
MIRT946277	hsa-miR-30d	CLIP-seq
MIRT946278	hsa-miR-30e	CLIP-seq
MIRT946279	hsa-miR-3179	CLIP-seq
MIRT946280	hsa-miR-34c-3p	CLIP-seq
MIRT946281	hsa-miR-3646	CLIP-seq
MIRT946282	hsa-miR-3666	CLIP-seq
MIRT946283	hsa-miR-3667-3p	CLIP-seq
MIRT946284	hsa-miR-4272	CLIP-seq
MIRT946285	hsa-miR-4289	CLIP-seq
MIRT946286	hsa-miR-4295	CLIP-seq
MIRT946287	hsa-miR-4517	CLIP-seq
MIRT946288	hsa-miR-4536	CLIP-seq
MIRT946289	hsa-miR-454	CLIP-seq
MIRT946290	hsa-miR-4667-3p	CLIP-seq
MIRT946291	hsa-miR-4668-3p	CLIP-seq
MIRT946292	hsa-miR-4691-5p	CLIP-seq
MIRT946293	hsa-miR-4729	CLIP-seq
MIRT946294	hsa-miR-4789-3p	CLIP-seq
MIRT946295	hsa-miR-500a	CLIP-seq
MIRT946296	hsa-miR-664	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980184	hsa-miR-1206	CLIP-seq
MIRT1980185	hsa-miR-1265	CLIP-seq
MIRT1980186	hsa-miR-1273e	CLIP-seq
MIRT1980187	hsa-miR-1278	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT1980189	hsa-miR-148a	CLIP-seq
MIRT1980190	hsa-miR-148b	CLIP-seq
MIRT1980191	hsa-miR-152	CLIP-seq
MIRT1980192	hsa-miR-1914	CLIP-seq
MIRT1980193	hsa-miR-193a-3p	CLIP-seq
MIRT1980194	hsa-miR-193b	CLIP-seq
MIRT1980195	hsa-miR-2117	CLIP-seq
MIRT1980196	hsa-miR-217	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT1980198	hsa-miR-31	CLIP-seq
MIRT1980199	hsa-miR-3128	CLIP-seq
MIRT1980200	hsa-miR-3605-5p	CLIP-seq
MIRT1980201	hsa-miR-3616-5p	CLIP-seq
MIRT1980202	hsa-miR-3647-5p	CLIP-seq
MIRT1980203	hsa-miR-3650	CLIP-seq
MIRT1980204	hsa-miR-3668	CLIP-seq
MIRT1980205	hsa-miR-3919	CLIP-seq
MIRT1980206	hsa-miR-4418	CLIP-seq
MIRT1980207	hsa-miR-4455	CLIP-seq
MIRT1980208	hsa-miR-4520a-5p	CLIP-seq
MIRT1980209	hsa-miR-4520b-5p	CLIP-seq
MIRT1980210	hsa-miR-4635	CLIP-seq
MIRT1980211	hsa-miR-4677-3p	CLIP-seq
MIRT1980212	hsa-miR-4756-3p	CLIP-seq
MIRT1980213	hsa-miR-509-3-5p	CLIP-seq
MIRT1980214	hsa-miR-509-5p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980216	hsa-miR-518a-5p	CLIP-seq
MIRT1980217	hsa-miR-527	CLIP-seq
MIRT1980218	hsa-miR-548u	CLIP-seq
MIRT1980219	hsa-miR-573	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT1980221	hsa-miR-609	CLIP-seq
MIRT1980222	hsa-miR-636	CLIP-seq
MIRT1980223	hsa-miR-892b	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980184	hsa-miR-1206	CLIP-seq
MIRT2387135	hsa-miR-1238	CLIP-seq
MIRT1980189	hsa-miR-148a	CLIP-seq
MIRT1980190	hsa-miR-148b	CLIP-seq
MIRT1980191	hsa-miR-152	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT1980203	hsa-miR-3650	CLIP-seq
MIRT1980207	hsa-miR-4455	CLIP-seq
MIRT1980208	hsa-miR-4520a-5p	CLIP-seq
MIRT1980209	hsa-miR-4520b-5p	CLIP-seq
MIRT946292	hsa-miR-4691-5p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT1980221	hsa-miR-609	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT2519747	hsa-miR-1184	CLIP-seq
MIRT2519748	hsa-miR-1205	CLIP-seq
MIRT2519749	hsa-miR-1281	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT2519750	hsa-miR-3158-5p	CLIP-seq
MIRT2519751	hsa-miR-3163	CLIP-seq
MIRT2519752	hsa-miR-3176	CLIP-seq
MIRT2519753	hsa-miR-3613-3p	CLIP-seq
MIRT2519754	hsa-miR-3662	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2519755	hsa-miR-3908	CLIP-seq
MIRT2519756	hsa-miR-3922-3p	CLIP-seq
MIRT2519757	hsa-miR-4457	CLIP-seq
MIRT2519758	hsa-miR-4529-5p	CLIP-seq
MIRT2519759	hsa-miR-4698	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2519760	hsa-miR-4719	CLIP-seq
MIRT2519761	hsa-miR-4731-3p	CLIP-seq
MIRT2519762	hsa-miR-4753-5p	CLIP-seq
MIRT2519763	hsa-miR-4757-5p	CLIP-seq
MIRT2519764	hsa-miR-4789-5p	CLIP-seq
MIRT2519765	hsa-miR-4801	CLIP-seq
MIRT2519766	hsa-miR-488	CLIP-seq
MIRT2519767	hsa-miR-513b	CLIP-seq
MIRT2519768	hsa-miR-521	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT2519769	hsa-miR-577	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT2519770	hsa-miR-590-3p	CLIP-seq
MIRT2519771	hsa-miR-600	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT2519752	hsa-miR-3176	CLIP-seq
MIRT2519754	hsa-miR-3662	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2519755	hsa-miR-3908	CLIP-seq
MIRT1980205	hsa-miR-3919	CLIP-seq
MIRT2519756	hsa-miR-3922-3p	CLIP-seq
MIRT2519759	hsa-miR-4698	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2519763	hsa-miR-4757-5p	CLIP-seq
MIRT2519766	hsa-miR-488	CLIP-seq
MIRT2519768	hsa-miR-521	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT2519771	hsa-miR-600	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Repression	15560761
IRF2	Repression	15560761

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	10428034
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IPI	11375975
GO:0005198	Function	Structural molecule activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11375975, 12482924, 17043677, 19632184, 19932097, 21911577, 22995871, 23414517, 26496610, 28514442, 31413325, 33961781, 35271311
GO:0005604	Component	Basement membrane	TAS	2461961
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11751855, 19932097
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0007010	Process	Cytoskeleton organization	IMP	19403692
GO:0007155	Process	Cell adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11375975
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008090	Process	Retrograde axonal transport	ISS
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	NAS	11375975
GO:0015629	Component	Actin cytoskeleton	IDA	10428034
GO:0015629	Component	Actin cytoskeleton	IDA	10428034
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	10428034
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030011	Process	Maintenance of cell polarity	IMP	19403692
GO:0030018	Component	Z disc	IDA	19932097
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	IBA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0030056	Component	Hemidesmosome	TAS	8575775, 11375975
GO:0030424	Component	Axon	IDA	10428034
GO:0030424	Component	Axon	IEA
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031252	Component	Cell leading edge	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	14581450
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031673	Component	H zone	IEA
GO:0035371	Component	Microtubule plus-end	IDA	19632184
GO:0042060	Process	Wound healing	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	19932097
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEP	11751855
GO:0045104	Process	Intermediate filament cytoskeleton organization	NAS	11375975
GO:0045111	Component	Intermediate filament cytoskeleton	IDA	10428034
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048870	Process	Cell motility	IMP	19403692
GO:0051010	Function	Microtubule plus-end binding	IDA	19632184
GO:0070161	Component	Anchoring junction	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:1904115	Component	Axon cytoplasm	IEA

Other IDs

• MIM: 113810
• HGNC: 1090
• e!Ensembl: ENSG00000151914

Protein

• UniProt ID: Q03001
• Protein name: Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein)
• Protein function: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-conta
• PDB: 3GJO, 7OLG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	35 → 139	Calponin homology (CH) domain	Domain
  PF00307	CH	151 → 256	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	699 → 803	Spectrin repeat	Domain
  PF17902	SH3_10	876 → 942	SH3 domain	Domain
  PF18373	Spectrin_like	977 → 1054	Spectrin like domain	Domain
  PF00681	Plectin	1585 → 1625	Plectin repeat	Repeat
  PF00681	Plectin	1774 → 1814	Plectin repeat	Repeat
  PF00435	Spectrin	3923 → 4040	Spectrin repeat	Domain
  PF00435	Spectrin	4060 → 4153	Spectrin repeat	Domain
  PF00435	Spectrin	4513 → 4622	Spectrin repeat	Domain
  PF00435	Spectrin	4625 → 4733	Spectrin repeat	Domain
  PF00435	Spectrin	4847 → 4952	Spectrin repeat	Domain
  PF00435	Spectrin	5281 → 5389	Spectrin repeat	Domain
  PF00435	Spectrin	5392 → 5498	Spectrin repeat	Domain
  PF00435	Spectrin	5502 → 5607	Spectrin repeat	Domain
  PF00435	Spectrin	5828 → 5934	Spectrin repeat	Domain
  PF00435	Spectrin	5937 → 6042	Spectrin repeat	Domain
  PF00435	Spectrin	6045 → 6155	Spectrin repeat	Domain
  PF00435	Spectrin	6170 → 6264	Spectrin repeat	Domain
  PF00435	Spectrin	6267 → 6374	Spectrin repeat	Domain
  PF00435	Spectrin	6377 → 6483	Spectrin repeat	Domain
  PF00435	Spectrin	6486 → 6592	Spectrin repeat	Domain
  PF00435	Spectrin	6595 → 6701	Spectrin repeat	Domain
  PF00435	Spectrin	6704 → 6811	Spectrin repeat	Domain
  PF00435	Spectrin	6816 → 6919	Spectrin repeat	Domain
  PF00435	Spectrin	6922 → 7028	Spectrin repeat	Domain
  PF13499	EF-hand_7	7199 → 7263	EF-hand domain pair	Domain
  PF02187	GAS2	7278 → 7352	Growth-Arrest-Specific Protein 2 Domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes. {ECO:0000269|PubMed:11751855, ECO:0000269|
• Sequence:

  MAGYLSPAAYLYVEEQEYLQAYEDVLERYKDERDKVQKKTFTKWINQHLMKVRKHVNDLY
  EDLRDGHNLISLLEVLSGDTLPREKGRMRFHRLQNVQIALDYLKRRQVKLVNIRNDDITD
  GNPKLTLGLIWTIILHFQISDIHVTGESEDMSAKERLLLWTQQATEGYAGIRCENFTTCW
  RDGKLFNAIIHKYRPDLIDMNTVAVQSNLANLEHAFYVAEKIGVIRLLDPEDVDVSSPDE
  KSVITYVSSLYDAFPKVPEGGEGIGANDVEVKWIEYQNMVNYLIQWIRHHVTTMSERTFP
  NNPVELKALYNQYLQFKETEIPPKETEKSKIKRLYKLLEIWIEFGRIKLLQGYHPNDIEK
  EWGKLIIAMLEREKALRPEVERLEMLQQIANRVQRDSVICEDKLILAGNALQSDSKRLES
  GVQFQNEAEIAGYILECENLLRQHVIDVQILIDGKYYQADQLVQRVAKLRDEIMALRNEC
  SSVYSKGRILTTEQTKLMISGITQSLNSGFAQTLHPSLTSGLTQSLTPSLTSSSMTSGLS
  SGMTSRLTPSVTPAYTPGFPSGLVPNFSSGVEPNSLQTLKLMQIRKPLLKSSLLDQNLTE
  EEINMKFVQDLLNWVDEMQVQLDRTEWGSDLPSVESHLENHKNVHRAIEEFESSLKEAKI
  SEIQMTAPLKLTYAEKLHRLESQYAKLLNTSRNQERHLDTLHNFVSRATNELIWLNEKEE
  EEVAYDWSERNTNIARKKDYHAELMRELDQKEENIKSVQEIAEQLLLENHPARLTIEAYR
  AAMQTQWSWILQLCQCVEQHIKENTAYFEFFNDAKEATDYLRNLKDAIQRKYSCDRSSSI
  HKLEDLVQESMEEKEELLQYKSTIANLMGKAKTIIQLKPRNSDCPLKTSIPIKAICDYRQ
  IEITIYKDDECVLANNSHRAKWKVISPTGNEAMVPSVCFTVPPPNKEAVDLANRIEQQYQ
  NVLTLWHESHINMKSVVSWHYLINEIDRIRASNVASIKTMLPGEHQQVLSNLQSRFEDFL
  EDSQESQVFSGSDITQLEKEVNVCKQYYQELLKSAEREEQEESVYNLYISEVRNIRLRLE
  NCEDRLIRQIRTPLERDDLHESVFRITEQEKLKKELERLKDDLGTITNKCEEFFSQAAAS
  SSVPTLRSELNVVLQNMNQVYSMSSTYIDKLKTVNLVLKNTQAAEALVKLYETKLCEEEA
  VIADKNNIENLISTLKQWRSEVDEKRQVFHALEDELQKAKAISDEMFKTYKERDLDFDWH
  KEKADQLVERWQNVHVQIDNRLRDLEGIGKSLKYYRDTYHPLDDWIQQVETTQRKIQENQ
  PENSKTLATQLNQQKMLVSEIEMKQSKMDECQKYAEQYSATVKDYELQTMTYRAMVDSQQ
  KSPVKRRRMQSSADLIIQEFMDLRTRYTALVTLMTQYIKFAGDSLKRLEEEEKSLEEEKK
  EHVEKAKELQKWVSNISKTLKDAEKAGKPPFSKQKISSEEISTKKEQLSEALQTIQLFLA
  KHGDKMTDEERNELEKQVKTLQESYNLLFSESLKQLQESQTSGDVKVEEKLDKVIAGTID
  QTTGEVLSVFQAVLRGLIDYDTGIRLLETQLMISGLISPELRKCFDLKDAKSHGLIDEQI
  LCQLKELSKAKEIISAASPTTIPVLDALAQSMITESMAIKVLEILLSTGSLVIPATGEQL
  TLQKAFQQNLVSSALFSKVLERQNMCKDLIDPCTSEKVSLIDMVQRSTLQENTGMWLLPV
  RPQEGGRITLKCGRNISILRAAHEGLIDRETMFRLLSAQLLSGGLINSNSGQRMTVEEAV
  REGVIDRDTASSILTYQVQTGGIIQSNPAKRLTVDEAVQCDLITSSSALLVLEAQRGYVG
  LIWPHSGEIFPTSSSLQQELITNELAYKILNGRQKIAALYIPESSQVIGLDAAKQLGIID
  NNTASILKNITLPDKMPDLGDLEACKNARRWLSFCKFQPSTVHDYRQEEDVFDGEEPVTT
  QTSEETKKLFLSYLMINSYMDANTGQRLLLYDGDLDEAVGMLLEGCHAEFDGNTAIKECL
  DVLSSSGVFLNNASGREKDECTATPSSFNKCHCGEPEHEETPENRKCAIDEEFNEMRNTV
  INSEFSQSGKLASTISIDPKVNSSPSVCVPSLISYLTQTELADISMLRSDSENILTNYEN
  QSRVETNERANECSHSKNIQNFPSDLIENPIMKSKMSKFCGVNETENEDNTNRDSPIFDY
  SPRLSALLSHDKLMHSQGSFNDTHTPESNGNKCEAPALSFSDKTMLSGQRIGEKFQDQFL
  GIAAINISLPGEQYGQKSLNMISSNPQVQYHNDKYISNTSGEDEKTHPGFQQMPEDKEDE
  SEIEEYSCAVTPGGDTDNAIVSLTCATPLLDETISASDYETSLLNDQQNNTGTDTDSDDD
  FYDTPLFEDDDHDSLLLDGDDRDCLHPEDYDTLQEENDETASPADVFYDVSKENENSMVP
  QGAPVGSLSVKNKAHCLQDFLMDVEKDELDSGEKIHLNPVGSDKVNGQSLETGSERECTN
  ILEGDESDSLTDYDIVGGKESFTASLKFDDSGSWRGRKEEYVTGQEFHSDTDHLDSMQSE
  ESYGDYIYDSNDQDDDDDDGIDEEGGGIRDENGKPRCQNVAEDMDIQLCASILNENSDEN
  ENINTMILLDKMHSCSSLEKQQRVNVVQLASPSENNLVTEKSNLPEYTTEIAGKSKENLL
  NHEMVLKDVLPPIIKDTESEKTFGPASISHDNNNISSTSELGTDLANTKVKLIQGSELPE
  LTDSVKGKDEYFKNMTPKVDSSLDHIICTEPDLIGKPAEESHLSLIASVTDKDPQGNGSD
  LIKGRDGKSDILIEDETSIQKMYLGEGEVLVEGLVEEENRHLKLLPGKNTRDSFKLINSQ
  FPFPQITNNEELNQKGSLKKATVTLKDEPNNLQIIVSKSPVQFENLEEIFDTSVSKEISD
  DITSDITSWEGNTHFEESFTDGPEKELDLFTYLKHCAKNIKAKDVAKPNEDVPSHVLITA
  PPMKEHLQLGVNNTKEKSTSTQKDSPLNDMIQSNDLCSKESISGGGTEISQFTPESIEAT
  LSILSRKHVEDVGKNDFLQSERCANGLGNDNSSNTLNTDYSFLEINNKKERIEQQLPKEQ
  ALSPRSQEKEVQIPELSQVFVEDVKDILKSRLKEGHMNPQEVEEPSACADTKILIQNLIK
  RITTSQLVNEASTVPSDSQMSDSSGVSPMTNSSELKPESRDDPFCIGNLKSELLLNILKQ
  DQHSQKITGVFELMRELTHMEYDLEKRGITSKVLPLQLENIFYKLLADGYSEKIEHVGDF
  NQKACSTSEMMEEKPHILGDIKSKEGNYYSPNLETVKEIGLESSTVWASTLPRDEKLKDL
  CNDFPSHLECTSGSKEMASGDSSTEQFSSELQQCLQHTEKMHEYLTLLQDMKPPLDNQES
  LDNNLEALKNQLRQLETFELGLAPIAVILRKDMKLAEEFLKSLPSDFPRGHVEELSISHQ
  SLKTAFSSLSNVSSERTKQIMLAIDSEMSKLAVSHEEFLHKLKSFSDWVSEKSKSVKDIE
  IVNVQDSEYVKKRLEFLKNVLKDLGHTKMQLETTAFDVQFFISEYAQDLSPNQSKQLLRL
  LNTTQKCFLDVQESVTTQVERLETQLHLEQDLDDQKIVAERQQEYKEKLQGICDLLTQTE
  NRLIGHQEAFMIGDGTVELKKYQSKQEELQKDMQGSAQALAEVVKNTENFLKENGEKLSQ
  EDKALIEQKLNEAKIKCEQLNLKAEQSKKELDKVVTTAIKEETEKVAAVKQLEESKTKIE
  NLLDWLSNVDKDSERAGTKHKQVIEQNGTHFQEGDGKSAIGEEDEVNGNLLETDVDGQVG
  TTQENLNQQYQKVKAQHEKIISQHQAVIIATQSAQVLLEKQGQYLSPEEKEKLQKNMKEL
  KVHYETALAESEKKMKLTHSLQEELEKFDADYTEFEHWLQQSEQELENLEAGADDINGLM
  TKLKRQKSFSEDVISHKGDLRYITISGNRVLEAAKSCSKRDGGKVDTSATHREVQRKLDH
  ATDRFRSLYSKCNVLGNNLKDLVDKYQHYEDASCGLLAGLQACEATASKHLSEPIAVDPK
  NLQRQLEETKALQGQISSQQVAVEKLKKTAEVLLDARGSLLPAKNDIQKTLDDIVGRYED
  LSKSVNERNEKLQITLTRSLSVQDGLDEMLDWMGNVESSLKEQGQVPLNSTALQDIISKN
  IMLEQDIAGRQSSINAMNEKVKKFMETTDPSTASSLQAKMKDLSARFSEASHKHKETLAK
  MEELKTKVELFENLSEKLQTFLETKTQALTEVDVPGKDVTELSQYMQESTSEFLEHKKHL
  EVLHSLLKEISSHGLPSDKALVLEKTNNLSKKFKEMEDTIKEKKEAVTSCQEQLDAFQVL
  VKSLKSWIKETTKKVPIVQPSFGAEDLGKSLEDTKKLQEKWSLKTPEIQKVNNSGISLCN
  LISAVTTPAKAIAAVKSGGAVLNGEGTATNTEEFWANKGLTSIKKDMTDISHGYEDLGLL
  LKDKIAELNTKLSKLQKAQEESSAMMQWLQKMNKTATKWQQTPAPTDTEAVKTQVEQNKS
  FEAELKQNVNKVQELKDKLTELLEENPDTPEAPRWKQMLTEIDSKWQELNQLTIDRQQKL
  EESSNNLTQFQTVEAQLKQWLVEKELMVSVLGPLSIDPNMLNTQRQQVQILLQEFATRKP
  QYEQLTAAGQGILSRPGEDPSLRGIVKEQLAAVTQKWDSLTGQLSDRCDWIDQAIVKSTQ
  YQSLLRSLSDKLSDLDNKLSSSLAVSTHPDAMNQQLETAQKMKQEIQQEKKQIKVAQALC
  EDLSALVKEEYLKAELSRQLEGILKSFKDVEQKAENHVQHLQSACASSHQFQQMSRDFQA
  WLDTKKEEQNKSHPISAKLDVLESLIKDHKDFSKTLTAQSHMYEKTIAEGENLLLKTQGS
  EKAALQLQLNTIKTNWDTFNKQVKERENKLKESLEKALKYKEQVETLWPWIDKCQNNLEE
  IKFCLDPAEGENSIAKLKSLQKEMDQHFGMVELLNNTANSLLSVCEIDKEVVTDENKSLI
  QKVDMVTEQLHSKKFCLENMTQKFKEFQEVSKESKRQLQCAKEQLDIHDSLGSQAYSNKY
  LTMLQTQQKSLQALKHQVDLAKRLAQDLVVEASDSKGTSDVLLQVETIAQEHSTLSQQVD
  EKCSFLETKLQGIGHFQNTIREMFSQFAEFDDELDSMAPVGRDAETLQKQKETIKAFLKK
  LEALMASNDNANKTCKMMLATEETSPDLVGIKRDLEALSKQCNKLLDRAQAREEQVEGTI
  KRLEEFYSKLKEFSILLQKAEEHEESQGPVGMETETINQQLNMFKVFQKEEIEPLQGKQQ
  DVNWLGQGLIQSAAKSTSTQGLEHDLDDVNARWKTLNKKVAQRAAQLQEALLHCGRFQDA
  LESLLSWMVDTEELVANQKPPSAEFKVVKAQIQEQKLLQRLLDDRKSTVEVIKREGEKIA
  TTAEPADKVKILKQLSLLDSRWEALLNKAETRNRQLEGISVVAQQFHETLEPLNEWLTTI
  EKRLVNCEPIGTQASKLEEQIAQHKALEDDIINHNKHLHQAVSIGQSLKVLSSREDKDMV
  QSKLDFSQVWYIEIQEKSHSRSELLQQALCNAKIFGEDEVELMNWLNEVHDKLSKLSVQD
  YSTEGLWKQQSELRVLQEDILLRKQNVDQALLNGLELLKQTTGDEVLIIQDKLEAIKARY
  KDITKLSTDVAKTLEQALQLARRLHSTHEELCTWLDKVEVELLSYETQVLKGEEASQAQM
  RPKELKKEAKNNKALLDSLNEVSSALLELVPWRAREGLEKMVAEDNERYRLVSDTITQKV
  EEIDAAILRSQQFDQAADAELSWITETEKKLMSLGDIRLEQDQTSAQLQVQKTFTMEILR
  HKDIIDDLVKSGHKIMTACSEEEKQSMKKKLDKVLKNYDTICQINSERYLQLERAQSLVN
  QFWETYEELWPWLTETQSIISQLPAPALEYETLRQQQEEHRQLRELIAEHKPHIDKMNKT
  GPQLLELSPGEGFSIQEKYVAADTLYSQIKEDVKKRAVALDEAISQSTQFHDKIDQILES
  LERIVERLRQPPSISAEVEKIKEQISENKNVSVDMEKLQPLYETLKQRGEEMIARSGGTD
  KDISAKAVQDKLDQMVFIWENIHTLVEEREAKLLDVMELAEKFWCDHMSLIVTIKDTQDF
  IRDLEDPGIDPSVVKQQQEAAETIREEIDGLQEELDIVINLGSELIAACGEPDKPIVKKS
  IDELNSAWDSLNKAWKDRIDKLEEAMQAAVQYQDGLQAVFDWVDIAGGKLASMSPIGTDL
  ETVKQQIEELKQFKSEAYQQQIEMERLNHQAELLLKKVTEESDKHTVQDPLMELKLIWDS
  LEERIINRQHKLEGALLALGQFQHALDELLAWLTHTEGLLSEQKPVGGDPKAIEIELAKH
  HVLQNDVLAHQSTVEAVNKAGNDLIESSAGEEASNLQNKLEVLNQRWQNVLEKTEQRKQQ
  LDGALRQAKGFHGEIEDLQQWLTDTERHLLASKPLGGLPETAKEQLNVHMEVCAAFEAKE
  ETYKSLMQKGQQMLARCPKSAETNIDQDINNLKEKWESVETKLNERKTKLEEALNLAMEF
  HNSLQDFINWLTQAEQTLNVASRPSLILDTVLFQIDEHKVFANEVNSHREQIIELDKTGT
  HLKYFSQKQDVVLIKNLLISVQSRWEKVVQRLVERGRSLDDARKRAKQFHEAWSKLMEWL
  EESEKSLDSELEIANDPDKIKTQLAQHKEFQKSLGAKHSVYDTTNRTGRSLKEKTSLADD
  NLKLDDMLSELRDKWDTICGKSVERQNKLEEALLFSGQFTDALQALIDWLYRVEPQLAED
  QPVHGDIDLVMNLIDNHKAFQKELGKRTSSVQALKRSARELIEGSRDDSSWVKVQMQELS
  TRWETVCALSISKQTRLEAALRQAEEFHSVVHALLEWLAEAEQTLRFHGVLPDDEDALRT
  LIDQHKEFMKKLEEKRAELNKATTMGDTVLAICHPDSITTIKHWITIIRARFEEVLAWAK
  QHQQRLASALAGLIAKQELLEALLAWLQWAETTLTDKDKEVIPQEIEEVKALIAEHQTFM
  EEMTRKQPDVDKVTKTYKRRAADPSSLQSHIPVLDKGRAGRKRFPASSLYPSGSQTQIET
  KNPRVNLLVSKWQQVWLLALERRRKLNDALDRLEELREFANFDFDIWRKKYMRWMNHKKS
  RVMDFFRRIDKDQDGKITRQEFIDGILSSKFPTSRLEMSAVADIFDRDGDGYIDYYEFVA
  ALHPNKDAYKPITDADKIEDEVTRQVAKCKCAKRFQVEQIGDNKYRFFLGNQFGDSQQLR
  LVRILRSTVMVRVGGGWMALDEFLVKNDPCRVHHHGSKMLRSESNSSITTTQPTIAKGRT
  NMELREKFILADGASQGMAAFRPRGRRSRPSSRGASPNRSTSVSSQAAQAASPQVPATTT
  PKGTPIQGSKLRLPGYLSGKGFHSGEDSGLITTAAARVRTQFADSKKTPSRPGSRAGSKA
  GSRASSRRGSDASDFDISEIQSVCSDVETVPQTHRPTPRAGSRPSTAKPSKIPTPQRKSP
  ASKLDKSSKR

• Sequence length: 7570

Pathways

Reactome:

Assembly of collagen fibrils and other multimeric structures
Type I hemidesmosome assembly

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
Cardiomyopathy	Pathogenic	rs1563162043	RCV002468700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital contracture	Pathogenic	rs1563162043	RCV002468700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Likely pathogenic	rs1454639285	RCV001027495	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DST-related disorder	Pathogenic	rs761229102, rs2536281668	RCV004756228 RCV004544210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	Likely pathogenic; Pathogenic	rs2152427474, rs2152440123, rs1198127456, rs761229102, rs758599939, rs2152759445, rs2152770295, rs2152729916, rs2152728832, rs2152751675, rs2152506082, rs2152556195, rs2152733577, rs528907932, rs2152422891, rs755738894, rs1440037452, rs2152370482, rs2152697802, rs2152403168, rs2152486042, rs1480207376, rs2152610983, rs2152759509, rs777347824, rs2152746765, rs1188417345, rs748746313, rs1426568243, rs755388186, rs2152554942, rs200803122, rs2152409202, rs2152394710, rs1284559589, rs2533455719, rs1247419225, rs2536691711, rs2534940448, rs772099949, rs2533348363, rs2536728271, rs1404977690, rs1392325549, rs2533686042, rs2536722203, rs2534830850, rs2536674321, rs747304080, rs2533409853, rs2536154366, rs2533685277, rs2537162620, rs2534263051, rs2533685520, rs2533706650, rs2537101394, rs2534211602, rs2536682049, rs868467486, rs2534369819, rs2536710992, rs142001477, rs2536743437, rs2534338827, rs1270417432, rs2536155834, rs2534268486, rs2535342236, rs2536688599, rs2095978390, rs2536477168, rs2535324981, rs2537038799, rs2535332546, rs1584100685, rs1312420010, rs2535508674, rs2536948872, rs2537169914, rs757600961, rs2536829592, rs2534159000, rs2534885536, rs2098722781, rs2534371010, rs774625619, rs398122819, rs893650971, rs778397331, rs748899221, rs577972555, rs770035646, rs759006806, rs1584328172, rs375889300, rs376491126, rs1587154269, rs1454639285, rs201045495, rs2098654029, rs1277472105, rs2098678320, rs2098784614, rs1376812152, rs766044749, rs948596983, rs2094929531, rs2095802050, rs2095976276, rs2096469777, rs2096799052, rs2096867388, rs2097534211, rs2097544341, rs2098545189, rs1487307181, rs780422336, rs2098681738, rs2094441686, rs2096858510	RCV001378330 RCV001379738 RCV001386390 RCV001380973 RCV001387514 RCV001385777 RCV001388170 RCV001824083 RCV001824084 RCV001891582 RCV001998586 RCV001872177 RCV001930386 RCV001960616 RCV001961435 RCV001950928 RCV001896560 RCV001976172 RCV002042581 RCV001994750 RCV002035254 RCV002000032 RCV001994464 RCV001941899 RCV001960697 RCV001927093 RCV001946623 RCV002026258 RCV001959053 RCV001883695 RCV001918214 RCV001975627 RCV001895286 RCV002021742 RCV003072800 RCV002613731 RCV002635477 RCV002695976 RCV002814985 RCV002833800 RCV002834877 RCV002880556 RCV002857166 RCV002871783 RCV002862584 RCV002908454 RCV002927366 RCV002923491 RCV002967701 RCV003024696 RCV003017467 RCV003024681 RCV003054541 RCV003033066 RCV003063832 RCV003048247 RCV005215956 RCV003782946 RCV003785264 RCV003789603 RCV003793427 RCV003787215 RCV003790381 RCV003792006 RCV003792413 RCV003807786 RCV003807967 RCV003808341 RCV003804394 RCV003791783 RCV003799735 RCV003805707 RCV003803823 RCV003804028 RCV003809147 RCV003794486 RCV003795131 RCV003808559 RCV003808585 RCV003804744 RCV003817990 RCV003815645 RCV003810624 RCV003812325 RCV003810162 RCV003810474 RCV005222941 RCV005222704 RCV001244880 RCV000651749 RCV000651719 RCV000705988 RCV000688797 RCV001855855 RCV000824024 RCV000820129 RCV000823530 RCV000794745 RCV000817762 RCV000822446 RCV000056254 RCV001069694 RCV001051217 RCV001068137 RCV001037996 RCV001221864 RCV001225454 RCV001247773 RCV001245997 RCV001244420 RCV001241388 RCV001248592 RCV001242502 RCV001247971 RCV001248338 RCV001248266 RCV001239927 RCV001246478 RCV001243947 RCV001246846 RCV001241867 RCV001243780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs1563162043	RCV002468700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary sensory and autonomic neuropathy type 6	Likely pathogenic; Pathogenic	rs779625484, rs2152427474, rs2152440123, rs1198127456, rs761229102, rs758599939, rs2152759445, rs2152770295, rs2127830414, rs2152382691, rs2152751675, rs2152506082, rs2152556195, rs2152733577, rs528907932, rs2152422891, rs755738894, rs1440037452, rs2152370482, rs2152697802, rs2152403168, rs2152486042, rs1480207376, rs2152610983, rs2152759509, rs777347824, rs2152746765, rs1188417345, rs748746313, rs1426568243, rs755388186, rs2152554942, rs200803122, rs2152409202, rs2152394710, rs2127689099, rs374616412, rs1426972011, rs1284559589, rs2533455719, rs1247419225, rs2536691711, rs2534940448, rs772099949, rs2533348363, rs2536728271, rs1404977690, rs1392325549, rs2533686042, rs2536722203, rs2534830850, rs2536674321, rs747304080, rs2533409853, rs2536154366, rs2533685277, rs2537162620, rs2534263051, rs2533685520, rs2533706650, rs2537101394, rs2535324169, rs2534211602, rs2536682049, rs868467486, rs2534369819, rs2536710992, rs142001477, rs2536743437, rs2534338827, rs1270417432, rs2536155834, rs2534268486, rs2535342236, rs2536688599, rs2095978390, rs2536477168, rs2535324981, rs2537038799, rs2535332546, rs1584100685, rs1312420010, rs2535508674, rs2536948872, rs2537169914, rs757600961, rs2536829592, rs2534159000, rs2534885536, rs2098722781, rs2534371010, rs2536399953, rs774625619, rs398122819, rs893650971, rs778397331, rs748899221, rs1562435373, rs201871537, rs577972555, rs770035646, rs1242078669, rs759006806, rs1584328172, rs375889300, rs376491126, rs1587154269, rs1454639285, rs201045495, rs2098654029, rs1277472105, rs2098678320, rs2098784614, rs1376812152, rs766044749, rs948596983, rs2094929531, rs2095802050, rs2095976276, rs2096469777, rs2096799052, rs2096867388, rs2097534211, rs2097544341, rs2098545189, rs1487307181, rs780422336, rs2098681738, rs2094441686, rs2096858510	RCV002283661 RCV001378330 RCV001379738 RCV001386390 RCV001380973 RCV001387514 RCV001385777 RCV001388170 RCV001775446 RCV001775447 RCV001891582 RCV001998586 RCV001872177 RCV001930386 RCV001960616 RCV001961435 RCV001950928 RCV001896560 RCV001976172 RCV002042581 RCV001994750 RCV002035254 RCV002000032 RCV001994464 RCV001941899 RCV001960697 RCV001927093 RCV001946623 RCV002026258 RCV001959053 RCV001883695 RCV001918214 RCV001975627 RCV001895286 RCV002021742 RCV002251172 RCV002260874 RCV002260875 RCV003072800 RCV002613731 RCV002635477 RCV002695976 RCV002814985 RCV002833800 RCV002834877 RCV002880556 RCV002857166 RCV002871783 RCV002862584 RCV002908454 RCV002927366 RCV002923491 RCV002967701 RCV003024696 RCV003017467 RCV003024681 RCV003054541 RCV003033066 RCV003063832 RCV003048247 RCV005215956 RCV003326053 RCV003782946 RCV003785264 RCV003789603 RCV003793427 RCV003787215 RCV003790381 RCV003792006 RCV003792413 RCV003807786 RCV003807967 RCV003808341 RCV003804394 RCV003791783 RCV003799735 RCV003805707 RCV003803823 RCV003804028 RCV003809147 RCV003794486 RCV003795131 RCV003808559 RCV003808585 RCV003804744 RCV003817990 RCV003815645 RCV003810624 RCV003812325 RCV003810162 RCV003810474 RCV003990617 RCV005222941 RCV000024316 RCV001244880 RCV000651749 RCV000651719 RCV000754992 RCV000757892 RCV000705988 RCV000688797 RCV000754750 RCV001855855 RCV000824024 RCV000820129 RCV000823530 RCV000794745 RCV000817762 RCV000822446 RCV000803078 RCV001069694 RCV001051217 RCV001068137 RCV001037996 RCV001221864 RCV001225454 RCV001247773 RCV001245997 RCV001244420 RCV001241388 RCV001248592 RCV001242502 RCV001247971 RCV001248338 RCV001248266 RCV001239927 RCV001246478 RCV001243947 RCV001246846 RCV001241867 RCV001243780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotonia	Pathogenic	rs1563162043	RCV002468700	★★★★☆ 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
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL JOINT CONTRACTURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOMINANTLY INHERITED SENSORY NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya angiopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Multiple sclerosis	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	11948124		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	29288564		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28475976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28261030, 30107890, 8710911		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16707453, 22403704, 28874690, 30734171, 31441464		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	3346203, 6594328		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	3346203, 6594328		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	10379705, 10867809, 10959044, 12767802, 15175032, 15725571, 15787824, 16403098, 1698819, 17879094, 1906508, 2045679, 20479946, 21782980, 24468586, 27650606, 27709645, 27716903, 28101965, 28135772, 28247089, 28261030, 28286109, 28590036, 28677172, 28736206, 28833620, 28887824, 29105148, 29411416, 29423547, 29545809, 29607480, 29619029, 29662486, 29686678, 29881377, 30042946, 30062977, 30394605, 30769277, 30928465, 31175713, 31191560, 31275329, 31297116, 31312206, 31603994, 31709656, 31824475, 7504025, 7543794, 8250577, 8884529		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	LHGDN	15725571, 17920818		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	20164846	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	9424087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34980126	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32107283	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31295110		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	20164846	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	15787824		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17487413, 31182925		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	7806225		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28614036, 31112276		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30220011		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	2543997, 26903233, 3346203, 3957876, 7798461		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15560761, 2045679, 28261030, 28833620		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30963337		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30963337		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25590217, 29481862, 31112276		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	22522446		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	11751855	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	11751855, 21272373, 22412020, 23273860, 24381311, 29061384, 31814231, 7670468, 9714981		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	20164846	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	2045679, 22137229, 26479498, 28627382		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	1686013, 28767192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG	20164846, 25059916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex Autosomal Recessive	Epidermolysis bullosa	Pubtator	20164846	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex due to BP230 deficiency	Epidermolysis Bullosa Simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	BEFREE	20164846		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	Epidermolysis Bullosa Simplex	BEFREE	20164846, 25059916		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	Epidermolysis Bullosa Simplex	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG	20164846, 25059916		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2	Epidermolysis Bullosa Simplex	CLINVAR_DG	20164846, 25059916		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2	Epidermolysis Bullosa Simplex	ORPHANET_DG	22113475		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	30615907		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30320585		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29315429		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20603410, 29315429		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	29653259		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	24381311, 28736206, 29061384, 29982604, 30371979, 31814231		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	28468842	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary sensory and autonomic neuropathy type 6	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disease	Hypertension	BEFREE	27649075, 31112276		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29545809		★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	29704593		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	1906508		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11854321		★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	31759407		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28871389		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31656085		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20571966	Inhibit	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	3346203, 7798461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16707453, 22403704, 28874690, 30734171, 31441464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28871389		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31267224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30734171		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23474825		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17487413, 31182925		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10890385, 20479946, 29325590, 29655983, 31425296		★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	10890385		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	2543997, 26903233, 3346203, 3957876, 7798461		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29276974, 30823348		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28805116		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	6241210, 6594328		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15787824		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11163115, 16077901		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	26395002		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20479946, 23474825, 28791476, 28871389, 29069700, 8010969		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11358730		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34116676	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28614036		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	8575775		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	Hereditary sensory and autonomic neuropathy	CLINVAR_DG	20164846, 25059916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	22522446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	Hereditary sensory and autonomic neuropathy	GENOMICS_ENGLAND_DG	24381311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	Hereditary sensory and autonomic neuropathy	BEFREE	28468842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29237763		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31267224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Attacks	Panic Disorder	BEFREE	16635529		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22528366		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	28521687		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	1717441, 36430582, 7517983, 8710911, 8884529	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	9284106	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	7543794		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	7543794		★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	30959087		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	15511603		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30220011		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30734171		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	15560761		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19347182		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31398428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30394605		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11735040, 11948124		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24675808	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24675808		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40179432	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	3346203, 7059637, 7798461		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30615907		★☆☆☆☆ Found in Text Mining only