DSC3 (desmocollin 3)

Gene

• Entrez ID: 1825
• Gene name: Desmocollin 3
• Gene symbol: DSC3
• Synonyms (NCBI Gene): CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852782	A>C	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028229	hsa-miR-33a-5p	Sequencing	20371350
MIRT028311	hsa-miR-32-5p	Sequencing	20371350
MIRT052624	hsa-let-7a-5p	CLASH	23622248
MIRT052624	hsa-let-7a-5p	CLASH	23622248
MIRT051723	hsa-let-7d-5p	CLASH	23622248
MIRT051723	hsa-let-7d-5p	CLASH	23622248
MIRT945578	hsa-miR-1202	CLIP-seq
MIRT945579	hsa-miR-1252	CLIP-seq
MIRT945580	hsa-miR-1287	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945582	hsa-miR-200b	CLIP-seq
MIRT945583	hsa-miR-200c	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945585	hsa-miR-223	CLIP-seq
MIRT945586	hsa-miR-2355-5p	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT945588	hsa-miR-3126-5p	CLIP-seq
MIRT945589	hsa-miR-3135b	CLIP-seq
MIRT945590	hsa-miR-3194-5p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945594	hsa-miR-374c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945598	hsa-miR-3938	CLIP-seq
MIRT945599	hsa-miR-3972	CLIP-seq
MIRT945600	hsa-miR-3973	CLIP-seq
MIRT945601	hsa-miR-4272	CLIP-seq
MIRT945602	hsa-miR-429	CLIP-seq
MIRT945603	hsa-miR-4302	CLIP-seq
MIRT945604	hsa-miR-4419a	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT945609	hsa-miR-4510	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945611	hsa-miR-4653-3p	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945614	hsa-miR-4697-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT945616	hsa-miR-4724-5p	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945618	hsa-miR-4729	CLIP-seq
MIRT945619	hsa-miR-4765	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945624	hsa-miR-512-3p	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT945626	hsa-miR-520g	CLIP-seq
MIRT945627	hsa-miR-520h	CLIP-seq
MIRT945628	hsa-miR-548a-5p	CLIP-seq
MIRT945629	hsa-miR-548aa	CLIP-seq
MIRT945630	hsa-miR-548ab	CLIP-seq
MIRT945631	hsa-miR-548ak	CLIP-seq
MIRT945632	hsa-miR-548b-5p	CLIP-seq
MIRT945633	hsa-miR-548c-5p	CLIP-seq
MIRT945634	hsa-miR-548d-5p	CLIP-seq
MIRT945635	hsa-miR-548h	CLIP-seq
MIRT945636	hsa-miR-548i	CLIP-seq
MIRT945637	hsa-miR-548j	CLIP-seq
MIRT945638	hsa-miR-548p	CLIP-seq
MIRT945639	hsa-miR-548w	CLIP-seq
MIRT945640	hsa-miR-548y	CLIP-seq
MIRT945641	hsa-miR-559	CLIP-seq
MIRT945642	hsa-miR-587	CLIP-seq
MIRT945643	hsa-miR-592	CLIP-seq
MIRT945644	hsa-miR-597	CLIP-seq
MIRT945645	hsa-miR-655	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT945647	hsa-miR-944	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT1979918	hsa-miR-210	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2215189	hsa-miR-1269	CLIP-seq
MIRT2215190	hsa-miR-1269b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT2215191	hsa-miR-130a	CLIP-seq
MIRT2215192	hsa-miR-130b	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT1979918	hsa-miR-210	CLIP-seq
MIRT2215193	hsa-miR-216b	CLIP-seq
MIRT2215194	hsa-miR-301a	CLIP-seq
MIRT2215195	hsa-miR-301b	CLIP-seq
MIRT2215196	hsa-miR-3666	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT2215197	hsa-miR-4295	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT2215198	hsa-miR-4529-3p	CLIP-seq
MIRT2215199	hsa-miR-454	CLIP-seq
MIRT2215200	hsa-miR-4671-3p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT1979917	hsa-miR-1914	CLIP-seq
MIRT2387123	hsa-miR-3157-3p	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT1979919	hsa-miR-4252	CLIP-seq
MIRT1979920	hsa-miR-4276	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT1979921	hsa-miR-4468	CLIP-seq
MIRT2387124	hsa-miR-4493	CLIP-seq
MIRT2387125	hsa-miR-4635	CLIP-seq
MIRT1979922	hsa-miR-4756-3p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT2387126	hsa-miR-4780	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT1979923	hsa-miR-4793-3p	CLIP-seq
MIRT2387127	hsa-miR-502-5p	CLIP-seq
MIRT1979924	hsa-miR-508-5p	CLIP-seq
MIRT1979925	hsa-miR-766	CLIP-seq
MIRT2387128	hsa-miR-874	CLIP-seq
MIRT2387129	hsa-miR-938	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT2428392	hsa-miR-3123	CLIP-seq
MIRT2428393	hsa-miR-3919	CLIP-seq
MIRT2428394	hsa-miR-4330	CLIP-seq
MIRT2428395	hsa-miR-4797-5p	CLIP-seq
MIRT2428396	hsa-miR-600	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945586	hsa-miR-2355-5p	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT2448528	hsa-miR-338-5p	CLIP-seq
MIRT2448529	hsa-miR-3545-3p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945598	hsa-miR-3938	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT2448530	hsa-miR-4637	CLIP-seq
MIRT945610	hsa-miR-4649-3p	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945615	hsa-miR-4722-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448531	hsa-miR-4795-3p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448535	hsa-miR-656	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT2448528	hsa-miR-338-5p	CLIP-seq
MIRT2448529	hsa-miR-3545-3p	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448531	hsa-miR-4795-3p	CLIP-seq
MIRT2448535	hsa-miR-656	CLIP-seq
MIRT2519544	hsa-miR-1268	CLIP-seq
MIRT2519545	hsa-miR-1268b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT945591	hsa-miR-3664-3p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945596	hsa-miR-3929	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945605	hsa-miR-4419b	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT945608	hsa-miR-4478	CLIP-seq
MIRT2519546	hsa-miR-4480	CLIP-seq
MIRT2519547	hsa-miR-4503	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945613	hsa-miR-4695-5p	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT945622	hsa-miR-485-5p	CLIP-seq
MIRT945623	hsa-miR-510	CLIP-seq
MIRT945625	hsa-miR-512-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq
MIRT2519544	hsa-miR-1268	CLIP-seq
MIRT2519545	hsa-miR-1268b	CLIP-seq
MIRT1979916	hsa-miR-128	CLIP-seq
MIRT945581	hsa-miR-1827	CLIP-seq
MIRT945584	hsa-miR-2114	CLIP-seq
MIRT945587	hsa-miR-3122	CLIP-seq
MIRT2448526	hsa-miR-3178	CLIP-seq
MIRT2448527	hsa-miR-323-5p	CLIP-seq
MIRT945592	hsa-miR-3689a-3p	CLIP-seq
MIRT945593	hsa-miR-3689c	CLIP-seq
MIRT945595	hsa-miR-3913-5p	CLIP-seq
MIRT945597	hsa-miR-3937	CLIP-seq
MIRT945606	hsa-miR-4433	CLIP-seq
MIRT945607	hsa-miR-4459	CLIP-seq
MIRT2519546	hsa-miR-4480	CLIP-seq
MIRT2519547	hsa-miR-4503	CLIP-seq
MIRT945612	hsa-miR-4683	CLIP-seq
MIRT945617	hsa-miR-4728-5p	CLIP-seq
MIRT945620	hsa-miR-4768-3p	CLIP-seq
MIRT945621	hsa-miR-4786-5p	CLIP-seq
MIRT2448532	hsa-miR-541	CLIP-seq
MIRT2448533	hsa-miR-566	CLIP-seq
MIRT2448534	hsa-miR-654-5p	CLIP-seq
MIRT2448536	hsa-miR-876-3p	CLIP-seq
MIRT945646	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0001701	Process	In utero embryonic development	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7929347
GO:0005911	Component	Cell-cell junction	TAS	7929347
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	7929347
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7929347
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IEA
GO:0045295	Function	Gamma-catenin binding	IPI	7983064
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IDA	7983064
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

Other IDs

• MIM: 600271
• HGNC: 3037
• e!Ensembl: ENSG00000134762

Protein

• UniProt ID: Q14574
• Protein name: Desmocollin-3 (Cadherin family member 3) (Desmocollin-4) (HT-CP)
• Protein function: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for cell-cell adhesion in the epidermis, as a result required for the maintenance of the dermal cohesion and t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08758	Cadherin_pro	27 → 113	Cadherin prodomain like	Domain
  PF00028	Cadherin	140 → 234	Cadherin domain	Domain
  PF00028	Cadherin	248 → 346	Cadherin domain	Domain
  PF00028	Cadherin	360 → 463	Cadherin domain	Domain
  PF00028	Cadherin	476 → 568	Cadherin domain	Domain
  PF01049	Cadherin_C	789 → 896	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed throughout the basal and spinous layer of the epidermis with weak expression in the granular layer (at protein level) (PubMed:19717567, PubMed:7665906). Also expressed in the buccal mucosa, esophagus and cervix (at protein le
• Sequence:

  MAAAGPRRSVRGAVCLHLLLTLVIFSRAGEACKKVILNVPSKLEADKIIGRVNLEECFRS
  ADLIRSSDPDFRVLNDGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLLEHQKKVS
  KTRHTRETVLRRAKRRWAPIPCSMQENSLGPFPLFLQQVESDAAQNYTVFYSISGRGVDK
  EPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADLPLPLPIRVEDENDNH
  PVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPS
  TGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVTDSNDNAPTFRQNAY
  EAFVEENAFNVEILRIPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVV
  KPLNYEENRQVNLEIGVNNEAPFARDIPRVTALNRALVTVHVRDLDEGPECTPAAQYVRI
  KENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISGSIITSKILDREVETP
  KNELYNITVLAIDKDDRSCTGTLAVNIEDVNDNPPEILQEYVVICKPKMGYTDILAVDPD
  EPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAA
  TKLLRVNLCECTHPTQCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKG
  KRFPEDLAQQNLIISNTEAPGDDRVCSANGFMTQTTNNSSQGFCGTMGSGMKNGGQETIE
  MMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKLHRCNQNE
  DRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR

• Sequence length: 896

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

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
Hereditary hypotrichosis with recurrent skin vesicles	Pathogenic; Likely pathogenic	rs2144681220, rs145045316, rs771238740, rs137852782	RCV001376131 RCV004820923 RCV003148072 RCV000009812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs145045316	RCV005926682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DSC3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS AND RECURRENT SKIN VESICLES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17088906		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	29468261		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	21929534, 26148547		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	29468261		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31484862, 34819141	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	17033975, 17186466, 17963498, 18957847, 20031616, 20124997, 20197793, 20400443, 20829228, 21822014, 23871674, 24086444, 24793512, 28256248, 29802319, 30239670, 31484862		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	17033975, 20124997, 20152563, 20197793, 21636032, 21822014, 22214898, 24086444, 25390934, 25445213, 25497880, 25837155, 29178656, 31024045, 31484862, 32201174, 33831308, 35819174, 36768439, 37418234	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	17186466		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	17186466, 19863551, 21062920, 23911551, 26743238, 31333075, 31568572		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35628349	Inhibit	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	17033975, 19863551, 21062920, 28256248		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	18957847, 23863954, 23911551, 28600387		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	18957847, 27532257, 29567486		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR	Arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA	Arrhythmogenic right ventricular cardiomyopathy WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25514237	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28450436, 30712139		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34819141	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28407487		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26952018, 29794239, 30655255, 31176951		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11408939, 12789271, 16168112		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16799634		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16168112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25809865, 33899544, 40650045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bundle Branch Block	Bundle branch block	Pubtator	31484862	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21364582	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22438068		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	16168112	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36367775	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	19287461	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22941060, 29855376		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26261554	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16489176, 19287461, 21623236, 28081338	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	23060301		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26261554		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23863954, 25497880, 26310507, 28339476, 31024045		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31024045	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	34819141	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34819141	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	27758776, 29371256		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	29468261		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23114648		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17088906		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	17088906	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	17088906	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31035049		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17088906	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17088906	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18819935		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21325624, 21364582, 30857973		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17088906		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18819935, 21364582	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	21929534		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30115995		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30772432		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28778589		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21929534		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28803366		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28803366		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	16168112		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	16168112		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	12928496		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	21929534		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26261554		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20621329		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20621329		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25119898	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27026567, 30309842, 30877463		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27626306, 30309842, 30877463		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17520715, 28209583, 28522666, 29398151, 29468261		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30115995		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30851326		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34819141	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	26952018		★☆☆☆☆ Found in Text Mining only
Hereditary hypotrichosis with recurrent skin vesicles	Hereditary Hypotrichosis With Skin Vesicles	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disease	Hypertension	BEFREE	27951412		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31179519		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28803366		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	21929534		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis And Recurrent Skin Vesicles	BEFREE	19765682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis And Recurrent Skin Vesicles	GENOMICS_ENGLAND_DG	19765682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis And Recurrent Skin Vesicles	ORPHANET_DG	19765682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis And Recurrent Skin Vesicles	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis And Recurrent Skin Vesicles	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	21929534		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25436828, 28209583, 28522666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11408939, 12789271, 16168112		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16799634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20621329		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22941060, 29855376		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26261554		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24664224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20527021, 26033320		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21681825, 24664224, 25119898, 29542824		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31035049		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16799634		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11408939, 16168112		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12789271, 16168112		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16799634		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16799634		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32869947	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32457125, 32869947	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28435852		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	29450879		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27951412		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	26261554		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36581338	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	28778721, 29371256, 30313089, 31601573		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	28778721, 29371256, 30313089, 31601573		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28339476		★☆☆☆☆ Found in Text Mining only
Naxos disease	Naxos Disease	BEFREE	25824144		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20621329, 21325624, 21681825, 21896084, 22941060, 24166502, 27646457, 28319499, 28474187, 29342201, 29863600, 29987450, 30857973, 31134296, 31176951		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23184149		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27831503		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	29468261, 30712139		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26261554		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26261554	Associate	★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR	Palmoplantar Keratoderma And Woolly Hair	BEFREE	18957847		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	23505434	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	28815795, 30671942, 31275323		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	30692201		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21382035		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35819174	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28778589		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	30877463		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24664224		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24664224	Associate	★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	BEFREE	19086034		★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	21681825		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	19287461	Associate	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31151900		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16489176, 23060301		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20621329, 23836524, 25119898, 31686859		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40650045	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	22941060		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20527021, 26033320		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34034702	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	25497880, 34819141	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	31484862	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	29468261, 30712139		★☆☆☆☆ Found in Text Mining only