Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3679
Gene name	Integrin subunit alpha 7
Gene symbol	ITGA7
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12q13.2
Summary	The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and th

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17854600	G>A,T	Pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained
rs140030984	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs142311782	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144983062	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs145463677	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, coding sequence variant
rs148641361	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149028067	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149081471	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149403824	T>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200390529	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, stop gained, coding sequence variant
rs200402328	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs200714716	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs372328960	G>A	Pathogenic	Stop gained, coding sequence variant
rs377510220	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs587780362	C>-,CC	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs750756707	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs761067098	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs767943997	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs773004449	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs777049999	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1060499775	->T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1217190017	C>T	Likely-pathogenic	Splice donor variant
rs1474512248	CAATAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565622052	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565627745	T>C	Pathogenic	Splice acceptor variant
rs1565629479	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040010	hsa-miR-615-3p	CLASH	23622248
MIRT1073709	hsa-miR-1972	CLIP-seq
MIRT1073710	hsa-miR-3616-3p	CLIP-seq
MIRT1073711	hsa-miR-4436b-3p	CLIP-seq
MIRT1073712	hsa-miR-4534	CLIP-seq
MIRT1073713	hsa-miR-4691-3p	CLIP-seq
MIRT1073714	hsa-miR-4755-3p	CLIP-seq
MIRT1073715	hsa-miR-4802-5p	CLIP-seq
MIRT1073716	hsa-miR-125a-5p	CLIP-seq
MIRT1073717	hsa-miR-125b	CLIP-seq
MIRT1073718	hsa-miR-1291	CLIP-seq
MIRT1073719	hsa-miR-146b-3p	CLIP-seq
MIRT1073720	hsa-miR-328	CLIP-seq
MIRT1073721	hsa-miR-339-5p	CLIP-seq
MIRT1073722	hsa-miR-4319	CLIP-seq
MIRT1073723	hsa-miR-4732-3p	CLIP-seq
MIRT1073724	hsa-miR-670	CLIP-seq
MIRT2250082	hsa-miR-1197	CLIP-seq
MIRT2250083	hsa-miR-1224-3p	CLIP-seq
MIRT2250084	hsa-miR-3121-5p	CLIP-seq
MIRT2250085	hsa-miR-4436a	CLIP-seq
MIRT2250086	hsa-miR-4711-5p	CLIP-seq
MIRT2553618	hsa-miR-124	CLIP-seq
MIRT2553619	hsa-miR-1257	CLIP-seq
MIRT2553620	hsa-miR-154	CLIP-seq
MIRT2553621	hsa-miR-1827	CLIP-seq
MIRT2553622	hsa-miR-3125	CLIP-seq
MIRT2553623	hsa-miR-3170	CLIP-seq
MIRT2553624	hsa-miR-3189-3p	CLIP-seq
MIRT2553625	hsa-miR-3202	CLIP-seq
MIRT2553626	hsa-miR-3612	CLIP-seq
MIRT2553627	hsa-miR-3714	CLIP-seq
MIRT2553628	hsa-miR-3910	CLIP-seq
MIRT2553629	hsa-miR-3916	CLIP-seq
MIRT2553630	hsa-miR-3941	CLIP-seq
MIRT2553631	hsa-miR-4476	CLIP-seq
MIRT2553632	hsa-miR-4497	CLIP-seq
MIRT2553633	hsa-miR-466	CLIP-seq
MIRT2553634	hsa-miR-4672	CLIP-seq
MIRT2553635	hsa-miR-4736	CLIP-seq
MIRT2553636	hsa-miR-4790-3p	CLIP-seq
MIRT2553637	hsa-miR-506	CLIP-seq
MIRT2553638	hsa-miR-615-5p	CLIP-seq
MIRT2553639	hsa-miR-642b	CLIP-seq
MIRT2553640	hsa-miR-650	CLIP-seq
MIRT2553641	hsa-miR-940	CLIP-seq
MIRT2553618	hsa-miR-124	CLIP-seq
MIRT2553619	hsa-miR-1257	CLIP-seq
MIRT2553620	hsa-miR-154	CLIP-seq
MIRT2553621	hsa-miR-1827	CLIP-seq
MIRT2553622	hsa-miR-3125	CLIP-seq
MIRT2553623	hsa-miR-3170	CLIP-seq
MIRT2553624	hsa-miR-3189-3p	CLIP-seq
MIRT2553625	hsa-miR-3202	CLIP-seq
MIRT2553626	hsa-miR-3612	CLIP-seq
MIRT2553627	hsa-miR-3714	CLIP-seq
MIRT2553628	hsa-miR-3910	CLIP-seq
MIRT2553629	hsa-miR-3916	CLIP-seq
MIRT2553630	hsa-miR-3941	CLIP-seq
MIRT2553631	hsa-miR-4476	CLIP-seq
MIRT2553632	hsa-miR-4497	CLIP-seq
MIRT2553633	hsa-miR-466	CLIP-seq
MIRT2553634	hsa-miR-4672	CLIP-seq
MIRT2553635	hsa-miR-4736	CLIP-seq
MIRT2553636	hsa-miR-4790-3p	CLIP-seq
MIRT2553637	hsa-miR-506	CLIP-seq
MIRT2553638	hsa-miR-615-5p	CLIP-seq
MIRT2553639	hsa-miR-642b	CLIP-seq
MIRT2553640	hsa-miR-650	CLIP-seq
MIRT2553641	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22779914
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
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	TAS	9354797
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007517	Process	Muscle organ development	TAS	9354797, 9590299
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IC	20563599
GO:0016020	Component	Membrane	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	20563599
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038023	Function	Signaling receptor activity	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050900	Process	Leukocyte migration	IBA
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
600536	6143	ENSG00000135424

Q13683

Protein name

Integrin alpha-7 [Cleaved into: Integrin alpha-7 heavy chain; Integrin alpha-7 light chain; Integrin alpha-7 70 kDa form]

Protein function

Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01839	FG-GAP	364 → 402	FG-GAP repeat	Repeat
PF08441	Integrin_alpha2	515 → 1006	Integrin alpha	Family

Tissue specificity

TISSUE SPECIFICITY: Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakl

Sequence

MAGARSRDPWGASGICYLFGSLLVELLFSRAVAFNLDVMGALRKEGEPGSLFGFSVALHR
QLQPRPQSWLLVGAPQALALPGQQANRTGGLFACPLSLEETDCYRVDIDQGADMQKESKE
NQWLGVSVRSQGPGGKIVTCAHRYEARQRVDQILETRDMIGRCFVLSQDLAIRDELDGGE
WKFCEGRPQGHEQFGFCQQGTAAAFSPDSHYLLFGAPGTYNWKGTARVELCAQGSADLAH
LDDGPYEAGGEKEQDPRLIPVPANSYFGLLFVTNIDSSDPDQLVYKTLDPADRLPGPAGD
LALNSYLGFSIDSGKGLVRAEELSFVAGAPRANHKGAVVILRKDSASRLVPEVMLSGERL
TSGFGYSLAVADLNSDGWPDLIVGAPYFFERQEELGGAVYVYLNQGGHWAGISPLRLCGS
PDSMFGISLAVLGDLNQDGFPDIAVGAPFDGDGKVFIYHGSSLGVVAKPSQVLEGEAVGI
KSFGYSLSGSLDMDGNQYPDLLVGSLADTAVLFRARPILHVSHEVSIAPRSIDLEQPNCA
GGHSVCVDLRVCFSYIAVPSSYSPTVALDYVLDADTDRRLRGQVPRVTFLSRNLEEPKHQ
ASGTVWLKHQHDRVCGDAMFQLQENVKDKLRAIVVTLSYSLQTPRLRRQAPGQGLPPVAP
ILNAHQPSTQRAEIHFLKQGCGEDKICQSNLQLVRARFCTRVSDTEFQPLPMDVDGTTAL
FALSGQPVIGLELMVTNLPSDPAQPQADGDDAHEAQLLVMLPDSLHYSGVRALDPAEKPL
CLSNENASHVECELGNPMKRGAQVTFYLILSTSGISIETTELEVELLLATISEQELHPVS
ARARVFIELPLSIAGMAIPQQLFFSGVVRGERAMQSERDVGSKVKYEVTVSNQGQSLRTL
GSAFLNIMWPHEIANGKWLLYPMQVELEGGQGPGQKGLCSPRPNILHLDVDSRDRRRREL
EPPEQQEPGERQEPSMSWWPVSSAEKKKNITLDCARGTANCVVFSCPLYSFDRAAVLHVW
GRLWNSTFLEEYSAVKSLEVIVRANITVKSSIKNLMLRDASTVIPVMVYLDPMAVVAEGV
PWWVILLAVLAGLLVLALLVLLLWKMGFFKRAKHPEATVPQYHAVKIPREDRQQFKEEKT
GTILRNNWGSPRREGPDAHPILAADGHPELGPDGHPGPGTA

Sequence length

1181

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Regulation of actin cytoskeleton Cytoskeleton in muscle cells Human papillomavirus infection Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Laminin interactions ECM proteoglycans

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499775	RCV000454351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy due to integrin alpha-7 deficiency	Pathogenic; Likely pathogenic	rs1871773510, rs2136072590, rs147648235, rs2136056222, rs1055839662, rs148136365, rs2136073462, rs141365537, rs201217202, rs2136025217, rs2136102011, rs587780362, rs2136045991, rs1384460756, rs757680080 View all (33 more)	RCV003619316 RCV001378426 RCV001385658 RCV001385006 RCV001390788 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	—	ClinGen, Orphanet ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Muscular Dystrophy, ITGA7-related	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITGA7-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Systemic Mastocytosis	Systemic Mastocytosis	BEFREE	31289310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31289310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31289310	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30696911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31325216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23317273, 31325216, 32734521, 33500458, 34253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	18160674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20651226	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26320193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31713264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23800289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29943828, 31372051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34860442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	23800289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	ORPHANET_DG	23800289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fiber-type disproportion myopathy	Congenital myopathy with fiber type disproportion	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	GENOMICS_ENGLAND_DG	9590299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy with integrin alpha-7 deficiency	Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23800289, 9590299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29721158, 31713264		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	18160674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	32993645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	34409913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17551147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20651226	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28602620, 30696911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28602620, 30696911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	LHGDN	17551147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	20460506, 28884746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34743543	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31855276	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31698037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	17551147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31325216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35194895	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28602620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31325216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31698037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26320193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26320193, 27924820, 31789398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10371075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12057917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	9590299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital	GENOMICS_ENGLAND_DG	26076707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital	CLINVAR_DG	9590299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital	ORPHANET_DG	9590299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	26076707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	12057917		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonia Congenita	Myotonia congenita	Pubtator	23800289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26011651, 27924820, 28602620, 31418948, 31698037, 31713264, 31789398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	33491544	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31418948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32963582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17551147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20460506, 23830872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20651226	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29721158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27924820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31789398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31789398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25887589, 31942970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31942970	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38523597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35194895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ITGA7 (integrin subunit alpha 7)