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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55612
Gene name	FERM domain containing kindlin 1
Gene symbol	FERMT1
Synonyms (NCBI Gene)	C20orf42DTGCU2KIND1UNC112AURP1
Chromosome	20
Chromosome location	20p12.3
Summary	This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2232078	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121918292	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918293	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918294	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs142328166	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs146180696	C>A	Pathogenic	Coding sequence variant, stop gained
rs748240859	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs779612399	T>C,G	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs866141540	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312718	A>G	Pathogenic	Missense variant, coding sequence variant
rs869312719	A>G	Pathogenic	Missense variant, coding sequence variant
rs869312720	CGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs869312721	TGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs869312722	T>A,C	Pathogenic	5 prime UTR variant
rs869312723	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312724	->T	Pathogenic	Coding sequence variant, frameshift variant
rs869312725	C>T	Pathogenic	Splice donor variant
rs869312726	C>T	Pathogenic	Splice acceptor variant
rs869312727	A>G	Pathogenic	Splice donor variant
rs869312728	C>G,T	Pathogenic	Intron variant
rs869312729	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312730	A>C,T	Pathogenic	Coding sequence variant, stop gained
rs869312731	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064793979	T>C	Pathogenic	Intron variant
rs1172664527	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1568654138	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1568664492	T>-	Pathogenic	Coding sequence variant, frameshift variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021380	hsa-miR-9-5p	Microarray	17612493
MIRT024326	hsa-miR-215-5p	Microarray	19074876
MIRT026139	hsa-miR-192-5p	Microarray	19074876
MIRT045760	hsa-miR-125a-5p	CLASH	23622248
MIRT994715	hsa-miR-105	CLIP-seq
MIRT994716	hsa-miR-1179	CLIP-seq
MIRT994717	hsa-miR-1207-5p	CLIP-seq
MIRT994718	hsa-miR-1254	CLIP-seq
MIRT994719	hsa-miR-125b	CLIP-seq
MIRT994720	hsa-miR-1298	CLIP-seq
MIRT994721	hsa-miR-3074-5p	CLIP-seq
MIRT994722	hsa-miR-3116	CLIP-seq
MIRT994723	hsa-miR-3117-3p	CLIP-seq
MIRT994724	hsa-miR-3148	CLIP-seq
MIRT994725	hsa-miR-3169	CLIP-seq
MIRT994726	hsa-miR-3188	CLIP-seq
MIRT994727	hsa-miR-3192	CLIP-seq
MIRT994728	hsa-miR-3656	CLIP-seq
MIRT994729	hsa-miR-3662	CLIP-seq
MIRT994730	hsa-miR-3688-3p	CLIP-seq
MIRT994731	hsa-miR-3689a-3p	CLIP-seq
MIRT994732	hsa-miR-3689c	CLIP-seq
MIRT994733	hsa-miR-3922-5p	CLIP-seq
MIRT994734	hsa-miR-4251	CLIP-seq
MIRT994735	hsa-miR-4259	CLIP-seq
MIRT994736	hsa-miR-4287	CLIP-seq
MIRT994737	hsa-miR-4319	CLIP-seq
MIRT994738	hsa-miR-4421	CLIP-seq
MIRT994739	hsa-miR-4433	CLIP-seq
MIRT994740	hsa-miR-4464	CLIP-seq
MIRT994741	hsa-miR-4469	CLIP-seq
MIRT994742	hsa-miR-4503	CLIP-seq
MIRT994743	hsa-miR-4506	CLIP-seq
MIRT994744	hsa-miR-4668-5p	CLIP-seq
MIRT994745	hsa-miR-4685-3p	CLIP-seq
MIRT994746	hsa-miR-4685-5p	CLIP-seq
MIRT994747	hsa-miR-4694-3p	CLIP-seq
MIRT994748	hsa-miR-4698	CLIP-seq
MIRT994749	hsa-miR-4708-3p	CLIP-seq
MIRT994750	hsa-miR-4728-5p	CLIP-seq
MIRT994751	hsa-miR-4732-3p	CLIP-seq
MIRT994752	hsa-miR-4736	CLIP-seq
MIRT994753	hsa-miR-4740-5p	CLIP-seq
MIRT994754	hsa-miR-4748	CLIP-seq
MIRT994755	hsa-miR-4753-5p	CLIP-seq
MIRT994756	hsa-miR-4757-5p	CLIP-seq
MIRT994757	hsa-miR-4759	CLIP-seq
MIRT994758	hsa-miR-4760-5p	CLIP-seq
MIRT994759	hsa-miR-4763-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT994761	hsa-miR-4768-5p	CLIP-seq
MIRT994762	hsa-miR-539	CLIP-seq
MIRT994763	hsa-miR-548t	CLIP-seq
MIRT994764	hsa-miR-550a	CLIP-seq
MIRT994765	hsa-miR-577	CLIP-seq
MIRT994766	hsa-miR-629	CLIP-seq
MIRT994767	hsa-miR-657	CLIP-seq
MIRT994768	hsa-miR-661	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT994770	hsa-miR-670	CLIP-seq
MIRT994771	hsa-miR-9	CLIP-seq
MIRT994772	hsa-miR-938	CLIP-seq
MIRT994773	hsa-miR-942	CLIP-seq
MIRT994717	hsa-miR-1207-5p	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995021	hsa-miR-181a	CLIP-seq
MIRT1995022	hsa-miR-181b	CLIP-seq
MIRT1995023	hsa-miR-181c	CLIP-seq
MIRT1995024	hsa-miR-181d	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995026	hsa-miR-1976	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995029	hsa-miR-23a	CLIP-seq
MIRT1995030	hsa-miR-23b	CLIP-seq
MIRT1995031	hsa-miR-23c	CLIP-seq
MIRT1995032	hsa-miR-3140-3p	CLIP-seq
MIRT1995033	hsa-miR-3173-3p	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995035	hsa-miR-3665	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995037	hsa-miR-4262	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995039	hsa-miR-4279	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995041	hsa-miR-4428	CLIP-seq
MIRT1995042	hsa-miR-4521	CLIP-seq
MIRT1995043	hsa-miR-4719	CLIP-seq
MIRT1995044	hsa-miR-4722-3p	CLIP-seq
MIRT994752	hsa-miR-4736	CLIP-seq
MIRT1995045	hsa-miR-4756-3p	CLIP-seq
MIRT994759	hsa-miR-4763-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995047	hsa-miR-5095	CLIP-seq
MIRT1995048	hsa-miR-513b	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995050	hsa-miR-552	CLIP-seq
MIRT1995051	hsa-miR-600	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT994750	hsa-miR-4728-5p	CLIP-seq
MIRT1995045	hsa-miR-4756-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT2449621	hsa-miR-1912	CLIP-seq
MIRT2449622	hsa-miR-4519	CLIP-seq
MIRT2449623	hsa-miR-4733-5p	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IEA
GO:0005178	Function	Integrin binding	IBA
GO:0005737	Component	Cytoplasm	IDA	18528435
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17012746
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA	18528435
GO:0005925	Component	Focal adhesion	IEA
GO:0007155	Process	Cell adhesion	IDA	17012746
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IGI	21356350
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA	17012746
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0033625	Process	Positive regulation of integrin activation	IGI	21356350
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IDA	17012746
GO:0051015	Function	Actin filament binding	IEA
GO:0051546	Process	Keratinocyte migration	IDA	17012746
GO:0051886	Process	Negative regulation of timing of anagen	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071944	Component	Cell periphery	IDA	18528435
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IDA	17012746
GO:1903691	Process	Positive regulation of wound healing, spreading of epidermal cells	IGI	21356350
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
607900	15889	ENSG00000101311

Q9BQL6

Protein name

Fermitin family homolog 1 (Kindlerin) (Kindlin syndrome protein) (Kindlin-1) (Unc-112-related protein 1)

Protein function

Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and fo

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18124	Kindlin_2_N	7 → 95	Kindlin-2 N-terminal domain	Domain
PF00373	FERM_M	279 → 570	FERM central domain	Domain
PF00169	PH	370 → 473	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in so

Sequence

MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFA
LWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKA
VSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSP
GLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAI
LLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKAD
SLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL
RGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAH
QNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIP
VTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQ
NETLDEDLFHKLTGGQD

Sequence length

677

Interactions

View interactions

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skin	Likely pathogenic	rs869312726	RCV001814118	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FERMT1-related disorder	Pathogenic	rs121918293, rs146180696, rs748240859	RCV003894788 RCV004755812 RCV004755927	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kindler syndrome	Pathogenic; Likely pathogenic	rs1982142302, rs1982268239, rs1983080839, rs2123118335, rs765716291, rs779915885, rs1411462678, rs121918292, rs1568654138, rs1568664492, rs121918293, rs121918294, rs869312721, rs869312731, rs869312718 View all (7 more)	RCV001352796 RCV001352794 RCV001352793 RCV001526461 RCV001783270 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KINDLER EPIDERMOLYSIS BULLOSA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, VESICULOBULLOUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	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
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amniotic Bands	Amniotic Bands	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	19762710, 19762715, 22466645, 26993041, 29634879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	19758247, 19762710, 26993041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21832234, 29330144, 30477537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19723662, 30477537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12697302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25592379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38308339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31340837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cheilitis	Cheilitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	29634879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	17955455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17955455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	29634879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19762715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21220475, 27641329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12697302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23537995, 27776350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27776350	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	19854292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21936020, 25156791, 27427485, 28501563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29265026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29265026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse skin atrophy	Diffuse skin atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33436679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	28690212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	33921969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28667517, 31165706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28667517, 31165706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35456975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 35456975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22970191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	19758247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	26537214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kindler epidermolysis bullosa	Kindler Epidermolysis Bullosa	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngostenosis	Laryngostenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25592379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12697302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25592379	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21832234, 29330144, 30477537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28667517, 31165706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23440354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21936020, 22326752, 25156791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19945623, 21832234, 23267142, 29330144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21220475, 23440354, 27641329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21832234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21220475, 25592379, 27725201, 27776350, 28667517, 29330144, 31165706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28223823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23440354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34732125, 36981005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	38506824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	BEFREE	14962093, 15068453, 17955455, 18652585, 19945623, 21936020, 25156791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	UNIPROT_DG	12668616, 12789646, 21936020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	GENOMICS_ENGLAND_DG	12668616, 27489438, 27537055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	12789646, 14962093, 14987263, 15807691, 15927810, 16309479, 16675959, 16702500, 17178989, 17955455, 18454678, 18528435, 18652585, 19758247, 19762710 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	CLINVAR_DG	12789646, 14507403, 14962093, 15313809, 18528435, 19762715, 21336475, 25156791, 25599393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	ORPHANET_DG	22466645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22466645, 29130490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	19762715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23149016, 27725201, 28501563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34814915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24635080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19057668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urethral Neoplasms	Urethral Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

FERMT1 (FERM domain containing kindlin 1)