ITGA6 (integrin subunit alpha 6)

Gene

• Entrez ID: 3655
• Gene name: Integrin subunit alpha 6
• Gene symbol: ITGA6
• Synonyms (NCBI Gene): CD49f, ITGA6A, ITGA6B, JEB6, VLA-6
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs863223349	AGA>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, inframe deletion
rs1559159868	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023546	hsa-miR-1-3p	Proteomics	18668040
MIRT023546	hsa-miR-1-3p	Microarray	18668037
MIRT025291	hsa-miR-34a-5p	Proteomics	21566225
MIRT028271	hsa-miR-32-5p	Sequencing	20371350
MIRT028474	hsa-miR-30a-5p	Proteomics	18668040
MIRT046458	hsa-miR-15b-5p	CLASH	23622248
MIRT437371	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437371	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437371	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437371	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437373	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437373	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437373	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437373	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT437372	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT086118	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	28036265
MIRT086118	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	28036265
MIRT735096	hsa-miR-302b-3p	Western blotting, qRT-PCR	32806777
MIRT739675	hsa-miR-181a	CLIP-seq
MIRT739672	hsa-miR-181b	CLIP-seq
MIRT739671	hsa-miR-181c	CLIP-seq
MIRT739674	hsa-miR-181d	CLIP-seq
MIRT739673	hsa-miR-4262	CLIP-seq
MIRT739676	hsa-miR-4436a	CLIP-seq
MIRT1073653	hsa-miR-103a	CLIP-seq
MIRT1073654	hsa-miR-107	CLIP-seq
MIRT1073655	hsa-miR-1224-5p	CLIP-seq
MIRT1073656	hsa-miR-1252	CLIP-seq
MIRT1073657	hsa-miR-1265	CLIP-seq
MIRT1073658	hsa-miR-1267	CLIP-seq
MIRT1073659	hsa-miR-129-5p	CLIP-seq
MIRT1073660	hsa-miR-1301	CLIP-seq
MIRT1073661	hsa-miR-1468	CLIP-seq
MIRT1073662	hsa-miR-1537	CLIP-seq
MIRT1073663	hsa-miR-208a	CLIP-seq
MIRT1073664	hsa-miR-208b	CLIP-seq
MIRT1073665	hsa-miR-224	CLIP-seq
MIRT1073666	hsa-miR-2392	CLIP-seq
MIRT1073667	hsa-miR-25	CLIP-seq
MIRT1073668	hsa-miR-300	CLIP-seq
MIRT1073669	hsa-miR-3157-5p	CLIP-seq
MIRT1073670	hsa-miR-3171	CLIP-seq
MIRT1073671	hsa-miR-3174	CLIP-seq
MIRT1073672	hsa-miR-32	CLIP-seq
MIRT1073673	hsa-miR-3617	CLIP-seq
MIRT1073674	hsa-miR-363	CLIP-seq
MIRT1073675	hsa-miR-3646	CLIP-seq
MIRT1073676	hsa-miR-3658	CLIP-seq
MIRT1073677	hsa-miR-3662	CLIP-seq
MIRT1073678	hsa-miR-367	CLIP-seq
MIRT1073679	hsa-miR-377	CLIP-seq
MIRT1073680	hsa-miR-381	CLIP-seq
MIRT1073681	hsa-miR-3915	CLIP-seq
MIRT1073682	hsa-miR-3976	CLIP-seq
MIRT1073683	hsa-miR-4261	CLIP-seq
MIRT1073684	hsa-miR-4282	CLIP-seq
MIRT1073685	hsa-miR-4468	CLIP-seq
MIRT1073686	hsa-miR-4496	CLIP-seq
MIRT1073687	hsa-miR-450b-5p	CLIP-seq
MIRT1073688	hsa-miR-4519	CLIP-seq
MIRT1073689	hsa-miR-4640-3p	CLIP-seq
MIRT1073690	hsa-miR-4666-3p	CLIP-seq
MIRT1073691	hsa-miR-4678	CLIP-seq
MIRT1073692	hsa-miR-4689	CLIP-seq
MIRT1073693	hsa-miR-4691-3p	CLIP-seq
MIRT1073694	hsa-miR-4722-3p	CLIP-seq
MIRT1073695	hsa-miR-4769-3p	CLIP-seq
MIRT1073696	hsa-miR-4789-5p	CLIP-seq
MIRT1073697	hsa-miR-494	CLIP-seq
MIRT1073698	hsa-miR-499-3p	CLIP-seq
MIRT1073699	hsa-miR-499-5p	CLIP-seq
MIRT1073700	hsa-miR-499a-3p	CLIP-seq
MIRT1073701	hsa-miR-5047	CLIP-seq
MIRT1073702	hsa-miR-507	CLIP-seq
MIRT1073703	hsa-miR-548u	CLIP-seq
MIRT1073704	hsa-miR-557	CLIP-seq
MIRT1073705	hsa-miR-641	CLIP-seq
MIRT1073706	hsa-miR-653	CLIP-seq
MIRT1073707	hsa-miR-92a	CLIP-seq
MIRT1073708	hsa-miR-92b	CLIP-seq
MIRT2018199	hsa-miR-1283	CLIP-seq
MIRT2018200	hsa-miR-142-5p	CLIP-seq
MIRT2018201	hsa-miR-3140-5p	CLIP-seq
MIRT2018202	hsa-miR-340	CLIP-seq
MIRT1073685	hsa-miR-4468	CLIP-seq
MIRT2018203	hsa-miR-4729	CLIP-seq
MIRT2018204	hsa-miR-548g	CLIP-seq
MIRT2018205	hsa-miR-892a	CLIP-seq
MIRT1073657	hsa-miR-1265	CLIP-seq
MIRT2250078	hsa-miR-186	CLIP-seq
MIRT1073663	hsa-miR-208a	CLIP-seq
MIRT1073664	hsa-miR-208b	CLIP-seq
MIRT1073666	hsa-miR-2392	CLIP-seq
MIRT1073667	hsa-miR-25	CLIP-seq
MIRT2250079	hsa-miR-3133	CLIP-seq
MIRT1073672	hsa-miR-32	CLIP-seq
MIRT1073673	hsa-miR-3617	CLIP-seq
MIRT1073674	hsa-miR-363	CLIP-seq
MIRT1073676	hsa-miR-3658	CLIP-seq
MIRT1073678	hsa-miR-367	CLIP-seq
MIRT1073691	hsa-miR-4678	CLIP-seq
MIRT1073698	hsa-miR-499-3p	CLIP-seq
MIRT1073699	hsa-miR-499-5p	CLIP-seq
MIRT1073700	hsa-miR-499a-3p	CLIP-seq
MIRT2250080	hsa-miR-548al	CLIP-seq
MIRT2250081	hsa-miR-548c-3p	CLIP-seq
MIRT1073705	hsa-miR-641	CLIP-seq
MIRT1073707	hsa-miR-92a	CLIP-seq
MIRT1073708	hsa-miR-92b	CLIP-seq
MIRT2389488	hsa-miR-101	CLIP-seq
MIRT2389489	hsa-miR-1243	CLIP-seq
MIRT2389490	hsa-miR-125a-3p	CLIP-seq
MIRT1073657	hsa-miR-1265	CLIP-seq
MIRT2389491	hsa-miR-1285	CLIP-seq
MIRT2389492	hsa-miR-130a	CLIP-seq
MIRT2389493	hsa-miR-130b	CLIP-seq
MIRT2389494	hsa-miR-144	CLIP-seq
MIRT1073663	hsa-miR-208a	CLIP-seq
MIRT1073664	hsa-miR-208b	CLIP-seq
MIRT2389495	hsa-miR-2355-5p	CLIP-seq
MIRT1073667	hsa-miR-25	CLIP-seq
MIRT2389496	hsa-miR-301a	CLIP-seq
MIRT2389497	hsa-miR-301b	CLIP-seq
MIRT2389498	hsa-miR-3126-3p	CLIP-seq
MIRT2018201	hsa-miR-3140-5p	CLIP-seq
MIRT2389499	hsa-miR-3187-5p	CLIP-seq
MIRT1073672	hsa-miR-32	CLIP-seq
MIRT1073673	hsa-miR-3617	CLIP-seq
MIRT2389500	hsa-miR-3622a-3p	CLIP-seq
MIRT2389501	hsa-miR-3622b-3p	CLIP-seq
MIRT1073674	hsa-miR-363	CLIP-seq
MIRT2389502	hsa-miR-3654	CLIP-seq
MIRT1073676	hsa-miR-3658	CLIP-seq
MIRT2389503	hsa-miR-3659	CLIP-seq
MIRT2389504	hsa-miR-3665	CLIP-seq
MIRT2389505	hsa-miR-3666	CLIP-seq
MIRT1073678	hsa-miR-367	CLIP-seq
MIRT2389506	hsa-miR-4280	CLIP-seq
MIRT2389507	hsa-miR-4295	CLIP-seq
MIRT2389508	hsa-miR-4328	CLIP-seq
MIRT1073688	hsa-miR-4519	CLIP-seq
MIRT2389509	hsa-miR-454	CLIP-seq
MIRT2389510	hsa-miR-4658	CLIP-seq
MIRT2389511	hsa-miR-4704-5p	CLIP-seq
MIRT2389512	hsa-miR-4738-3p	CLIP-seq
MIRT1073698	hsa-miR-499-3p	CLIP-seq
MIRT1073699	hsa-miR-499-5p	CLIP-seq
MIRT1073700	hsa-miR-499a-3p	CLIP-seq
MIRT2389513	hsa-miR-574-5p	CLIP-seq
MIRT2389514	hsa-miR-612	CLIP-seq
MIRT1073705	hsa-miR-641	CLIP-seq
MIRT2389515	hsa-miR-657	CLIP-seq
MIRT2389516	hsa-miR-891b	CLIP-seq
MIRT1073707	hsa-miR-92a	CLIP-seq
MIRT1073708	hsa-miR-92b	CLIP-seq
MIRT2553614	hsa-miR-297	CLIP-seq
MIRT2553615	hsa-miR-3149	CLIP-seq
MIRT1073685	hsa-miR-4468	CLIP-seq
MIRT1073691	hsa-miR-4678	CLIP-seq
MIRT2389512	hsa-miR-4738-3p	CLIP-seq
MIRT2553616	hsa-miR-586	CLIP-seq
MIRT2553617	hsa-miR-643	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU5F1	Activation	22311737
SOX2	Activation	22311737

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	2649503, 9360996, 10811835, 15466886, 21880726, 33961781, 35271311, 35657344
GO:0005886	Component	Plasma membrane	IDA	21310825
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007044	Process	Cell-substrate junction assembly	TAS	9185503
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	9679049
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	9679049
GO:0008305	Component	Integrin complex	IEA
GO:0009986	Component	Cell surface	HDA	23658023
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19933311, 20563599, 23154389
GO:0009986	Component	Cell surface	IEA
GO:0010668	Process	Ectodermal cell differentiation	IEP	23154389
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	24091622
GO:0031589	Process	Cell-substrate adhesion	IMP	19933311
GO:0031994	Function	Insulin-like growth factor I binding	IDA	22351760
GO:0034675	Component	Integrin alpha6-beta1 complex	IBA
GO:0034675	Component	Integrin alpha6-beta1 complex	IPI	2649503
GO:0034676	Component	Integrin alpha6-beta4 complex	IBA
GO:0035878	Process	Nail development	IMP	23496044
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038132	Function	Neuregulin binding	IDA	20682778
GO:0043065	Process	Positive regulation of apoptotic process	IGI	19364818
GO:0043547	Process	Positive regulation of GTPase activity	IMP	25911094
GO:0043589	Process	Skin morphogenesis	IMP	23496044
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21310825
GO:0046872	Function	Metal ion binding	IEA
GO:0050900	Process	Leukocyte migration	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	21310825

Other IDs

• MIM: 147556
• HGNC: 6142
• e!Ensembl: ENSG00000091409

Protein

• UniProt ID: P23229
• Protein name: Integrin alpha-6 (CD49 antigen-like family member F) (VLA-6) (CD antigen CD49f) [Cleaved into: Integrin alpha-6 heavy chain; Integrin alpha-6 light chain; Processed integrin alpha-6 (Alpha6p)]
• Protein function: Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4)
• PDB: 7CEB, 7CEC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01839	FG-GAP	355 → 393	FG-GAP repeat	Repeat
  PF08441	Integrin_alpha2	503 → 978	Integrin alpha	Family

• Tissue specificity: TISSUE SPECIFICITY: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum, myoblasts and myotu
• Sequence:

  MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFGFSLAMHWQLQPEDKR
  LLLVGAPRAEALPLQRANRTGGLYSCDITARGPCTRIEFDNDADPTSESKEDQWMGVTVQ
  SQGPGGKVVTCAHRYEKRQHVNTKQESRDIFGRCYVLSQNLRIEDDMDGGDWSFCDGRLR
  GHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQKNNTFFDMNIFEDGPYEVG
  GETEHDESLVPVPANSYLGLLFLTSVSYTDPDQFVYKTRPPREQPDTFPDVMMNSYLGFS
  LDSGKGIVSKDEITFVSGAPRANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVA
  VVDLNKDGWQDIVIGAPQYFDRDGEVGGAVYVYMNQQGRWNNVKPIRLNGTKDSMFGIAV
  KNIGDINQDGYPDIAVGAPYDDLGKVFIYHGSANGINTKPTQVLKGISPYFGYSIAGNMD
  LDRNSYPDVAVGSLSDSVTIFRSRPVINIQKTITVTPNRIDLRQKTACGAPSGICLQVKS
  CFEYTANPAGYNPSISIVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKV
  CMEETLWLQDNIRDKLRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHF
  LKEGCGDDNVCNSNLKLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNS
  PSNPRNPTKDGDDAHEAKLIATFPDTLTYSAYRELRAFPEKQLSCVANQNGSQADCELGN
  PFKRNSNVTFYLVLSTTEVTFDTPDLDINLKLETTSNQDNLAPITAKAKVVIELLLSVSG
  VAKPSQVYFGGTVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISN
  GKWLLYLVKVESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAER
  KYQTLNCSVNVNCVNIRCPLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDV
  TAAAENIRLPNAGTQVRVTVFPSKTVAQYSGVPWWIILVAILAGILMLALLVFILWKCGF
  FKRSRYDDSVPRYHAVRIRKEEREIKDEKYIDNLEKKQWITKWNENESYS

• Sequence length: 1130

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Toxoplasmosis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Assembly of collagen fibrils and other multimeric structures
Basigin interactions
Integrin cell surface interactions
Laminin interactions
Syndecan interactions
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
Childhood-onset schizophrenia	Likely pathogenic	rs863223349	RCV000202327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs759810439	RCV005869880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa	Likely pathogenic	rs1377038208	RCV004798938	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa, junctional 6, with pyloric atresia	Likely pathogenic; Pathogenic	rs1377038208, rs2149041171, rs2149039042, rs2149078144, rs2149047535, rs2468297861, rs1312750144, rs769808745, rs754621187	RCV002052423 RCV002052424 RCV002052425 RCV002052426 RCV002051631 RCV005014845 RCV005030309 RCV005021165 RCV002497492	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa	Pathogenic	rs1686177024	RCV001352792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa with pyloric atresia	Likely pathogenic; Pathogenic	rs1686926761, rs2149047683	RCV001329697 RCV001535978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITGA6-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory kidney	Accessory Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16436605, 16732726		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18472958		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	12680208		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31175464		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	37040084	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	32987729	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	9849316	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29769273, 32494122	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21182210		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	34818353	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	23620269		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31409574		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	1694890	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19838757, 20332234, 20940399, 24008095, 25269750, 25445919, 27001172, 27624978, 28084338, 28690650, 9358743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22791584, 25269750, 25445919, 25450398, 26695635, 27001172, 27624978, 28084338, 29909039, 30850363, 32494122, 33500458, 34626053, 38250718	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	LHGDN	16424229		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	21820706	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22331423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28084338		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24304619, 29425759	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35657344	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31409574		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26499463	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30930993		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36959587	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30188591, 30908730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30188591, 30908730		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	Charcot-Marie-Tooth Disease	BEFREE	27068304		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	34347028	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26895101, 30536996, 31572857		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26674523, 26895101, 30536996, 34257702	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28701000		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	28701000		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	BEFREE	9546354		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20416958, 31831175		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37540585	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34347028	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35898457	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	9185503	Associate	★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	1694890, 9546354	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	23496044, 26817667, 9546354		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	8751975, 9158140	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	BEFREE	11251584, 15654962, 18779879, 18955862, 26739954, 27607025, 9182827, 9892956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	15654962, 39322060, 9185503	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	26817667, 9185503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	ORPHANET_DG	9185503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28036265		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28036265		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31345182, 35835740, 36290884	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	30449496		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29416013		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25288800, 26677976, 28494695		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26992919, 30467961, 37821547	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25288800, 26677976, 28494695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	35044082	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21294120		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	7682756	Associate	★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	BEFREE	27607025		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	34471485	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21820706	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	34525210	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24412318		★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Junctional epidermolysis bullosa with pyloric atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional split	Junctional split	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28125325		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	7682756	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18831072, 23233446, 31894899	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22295105		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23233446, 26439029	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35289472	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22295105, 23233446		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21320503, 24304619, 30010110, 31400382, 31792839		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	8080732	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25472585	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	33785876	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	20220060	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	31819166		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21294120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19838757, 20332234, 20940399, 24008095, 25269750, 25445919, 27001172, 27624978, 28084338, 28690650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28036265		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29416013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30930993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30894280		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25349289, 26990292, 27509031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	25736275		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31409574		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20332234, 22110593, 25176420, 26956263, 27001172, 28494695, 29681946, 30280675, 31492002		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30188591, 30908730		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16965770, 17935134, 19124484, 19138983		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1991990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	22189006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	24412318		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21820706, 33785876	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	9708801	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	20382434, 32157826	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20382434		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	1384339	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35289472	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18818395		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	12746479, 16306614, 30772768	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16306614, 31572857		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18496706, 18782851, 20484027, 20940399, 23045288, 24008095, 24042193, 24322659, 25269750, 27624978, 27775025, 28457887, 28636114, 29416013, 29573114, 30010110, 30449496, 30772768, 31734558, 31832114, 7681030		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31406249	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	7682756	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31832114		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23045288, 29573114		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40083708	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30930993		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20628624, 28328815, 35168644	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30894280		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12931024, 16504015		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19825166, 29764514, 30894280	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	32602654	Stimulate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	1694890	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	14578180		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	16870608		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25349289, 26990292, 27509031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17303120, 20651075, 23071686, 23106339, 23450810, 24497940, 25371445, 27509031, 28494073, 36095024	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30467286		★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	BEFREE	23496044		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17379860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia Childhood	Schizophrenia	Pubtator	26508570	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24042193, 28036265		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28415821, 30431092, 34326893, 35820930, 39376501	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33099569	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25472585	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	30449496		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24008095, 26011941, 28457887		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24008095, 24982892, 28084338, 37836626	Associate	★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27132080, 30908730, 37410084	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30791957	Stimulate	★☆☆☆☆ Found in Text Mining only