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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2196
Gene name	FAT atypical cadherin 2
Gene symbol	FAT2
Synonyms (NCBI Gene)	CDHF8CDHR9HFAT2MEGF1SCA45
Chromosome	5
Chromosome location	5q33.1
Summary	This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051119	hsa-miR-16-5p	CLASH	23622248
MIRT050749	hsa-miR-17-3p	CLASH	23622248
MIRT047514	hsa-miR-10a-5p	CLASH	23622248
MIRT047135	hsa-miR-183-5p	CLASH	23622248
MIRT040508	hsa-miR-548b-3p	CLASH	23622248
MIRT039359	hsa-miR-421	CLASH	23622248
MIRT039349	hsa-miR-542-5p	CLASH	23622248
MIRT989827	hsa-miR-153	CLIP-seq
MIRT989828	hsa-miR-200b	CLIP-seq
MIRT989829	hsa-miR-200c	CLIP-seq
MIRT989830	hsa-miR-2276	CLIP-seq
MIRT989831	hsa-miR-296-3p	CLIP-seq
MIRT989832	hsa-miR-3121-5p	CLIP-seq
MIRT989833	hsa-miR-3186-5p	CLIP-seq
MIRT989834	hsa-miR-3187-3p	CLIP-seq
MIRT989835	hsa-miR-3667-3p	CLIP-seq
MIRT989836	hsa-miR-429	CLIP-seq
MIRT989837	hsa-miR-4435	CLIP-seq
MIRT989838	hsa-miR-4701-5p	CLIP-seq
MIRT989839	hsa-miR-4725-5p	CLIP-seq
MIRT989840	hsa-miR-4772-3p	CLIP-seq
MIRT989841	hsa-miR-4785	CLIP-seq
MIRT989842	hsa-miR-504	CLIP-seq
MIRT989843	hsa-miR-548s	CLIP-seq
MIRT989844	hsa-miR-588	CLIP-seq
MIRT989845	hsa-miR-627	CLIP-seq
MIRT1993346	hsa-miR-1207-5p	CLIP-seq
MIRT1993347	hsa-miR-1909	CLIP-seq
MIRT1993348	hsa-miR-2467-3p	CLIP-seq
MIRT1993349	hsa-miR-3199	CLIP-seq
MIRT1993350	hsa-miR-4652-5p	CLIP-seq
MIRT1993351	hsa-miR-4688	CLIP-seq
MIRT1993352	hsa-miR-4707-3p	CLIP-seq
MIRT1993353	hsa-miR-4763-3p	CLIP-seq
MIRT1993354	hsa-miR-486-3p	CLIP-seq
MIRT2227196	hsa-miR-128	CLIP-seq
MIRT2227197	hsa-miR-1293	CLIP-seq
MIRT2227198	hsa-miR-3174	CLIP-seq
MIRT2227199	hsa-miR-3689a-3p	CLIP-seq
MIRT2227200	hsa-miR-3689c	CLIP-seq
MIRT2227201	hsa-miR-4419a	CLIP-seq
MIRT2227202	hsa-miR-4483	CLIP-seq
MIRT2227203	hsa-miR-4510	CLIP-seq
MIRT2227204	hsa-miR-4515	CLIP-seq
MIRT2227205	hsa-miR-4649-3p	CLIP-seq
MIRT2227206	hsa-miR-4728-5p	CLIP-seq
MIRT989832	hsa-miR-3121-5p	CLIP-seq
MIRT989834	hsa-miR-3187-3p	CLIP-seq
MIRT989835	hsa-miR-3667-3p	CLIP-seq
MIRT2449496	hsa-miR-3926	CLIP-seq
MIRT989837	hsa-miR-4435	CLIP-seq
MIRT2449497	hsa-miR-4480	CLIP-seq
MIRT989838	hsa-miR-4701-5p	CLIP-seq
MIRT989843	hsa-miR-548s	CLIP-seq
MIRT989844	hsa-miR-588	CLIP-seq
MIRT2531151	hsa-miR-1321	CLIP-seq
MIRT2531152	hsa-miR-2682	CLIP-seq
MIRT989832	hsa-miR-3121-5p	CLIP-seq
MIRT2531153	hsa-miR-3126-5p	CLIP-seq
MIRT989834	hsa-miR-3187-3p	CLIP-seq
MIRT2531154	hsa-miR-34a	CLIP-seq
MIRT2531155	hsa-miR-34c-5p	CLIP-seq
MIRT2531156	hsa-miR-3619-3p	CLIP-seq
MIRT989835	hsa-miR-3667-3p	CLIP-seq
MIRT2531157	hsa-miR-3714	CLIP-seq
MIRT2449496	hsa-miR-3926	CLIP-seq
MIRT2227201	hsa-miR-4419a	CLIP-seq
MIRT989837	hsa-miR-4435	CLIP-seq
MIRT2531158	hsa-miR-449a	CLIP-seq
MIRT2531159	hsa-miR-449b	CLIP-seq
MIRT2531160	hsa-miR-449c	CLIP-seq
MIRT2227203	hsa-miR-4510	CLIP-seq
MIRT989838	hsa-miR-4701-5p	CLIP-seq
MIRT2227206	hsa-miR-4728-5p	CLIP-seq
MIRT2531161	hsa-miR-4739	CLIP-seq
MIRT2531162	hsa-miR-4756-5p	CLIP-seq
MIRT2531163	hsa-miR-4776-5p	CLIP-seq
MIRT2531164	hsa-miR-4800-5p	CLIP-seq
MIRT2531165	hsa-miR-548an	CLIP-seq
MIRT989843	hsa-miR-548s	CLIP-seq
MIRT2531166	hsa-miR-548t	CLIP-seq
MIRT989844	hsa-miR-588	CLIP-seq
MIRT989832	hsa-miR-3121-5p	CLIP-seq
MIRT989834	hsa-miR-3187-3p	CLIP-seq
MIRT989835	hsa-miR-3667-3p	CLIP-seq
MIRT2449496	hsa-miR-3926	CLIP-seq
MIRT989837	hsa-miR-4435	CLIP-seq
MIRT989838	hsa-miR-4701-5p	CLIP-seq
MIRT989843	hsa-miR-548s	CLIP-seq
MIRT2531166	hsa-miR-548t	CLIP-seq
MIRT989844	hsa-miR-588	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	17900869
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0010631	Process	Epithelial cell migration	IDA	29053796
GO:0010631	Process	Epithelial cell migration	IMP	17900869
GO:0016020	Component	Membrane	IEA
GO:0031589	Process	Cell-substrate adhesion	IDA	29053796
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
604269	3596	ENSG00000086570

Q9NYQ8

Protein name

Protocadherin Fat 2 (hFat2) (Cadherin family member 8) (Multiple epidermal growth factor-like domains protein 1) (Multiple EGF-like domains protein 1)

Protein function

Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity). {ECO:0000250|UniProtKB:O88277, ECO:0000269|PubMe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	153 → 247	Cadherin domain	Domain
PF00028	Cadherin	463 → 553	Cadherin domain	Domain
PF00028	Cadherin	569 → 659	Cadherin domain	Domain
PF00028	Cadherin	720 → 811	Cadherin domain	Domain
PF00028	Cadherin	825 → 916	Cadherin domain	Domain
PF00028	Cadherin	930 → 1019	Cadherin domain	Domain
PF00028	Cadherin	1037 → 1128	Cadherin domain	Domain
PF00028	Cadherin	1142 → 1233	Cadherin domain	Domain
PF00028	Cadherin	1247 → 1335	Cadherin domain	Domain
PF00028	Cadherin	1354 → 1438	Cadherin domain	Domain
PF00028	Cadherin	1453 → 1546	Cadherin domain	Domain
PF00028	Cadherin	1560 → 1651	Cadherin domain	Domain
PF00028	Cadherin	1665 → 1749	Cadherin domain	Domain
PF00028	Cadherin	1774 → 1863	Cadherin domain	Domain
PF00028	Cadherin	1973 → 2061	Cadherin domain	Domain
PF00028	Cadherin	2075 → 2164	Cadherin domain	Domain
PF00028	Cadherin	2176 → 2263	Cadherin domain	Domain
PF00028	Cadherin	2277 → 2370	Cadherin domain	Domain
PF00028	Cadherin	2384 → 2472	Cadherin domain	Domain
PF00028	Cadherin	2486 → 2576	Cadherin domain	Domain
PF00028	Cadherin	2590 → 2682	Cadherin domain	Domain
PF00028	Cadherin	2696 → 2788	Cadherin domain	Domain
PF00028	Cadherin	2802 → 2897	Cadherin domain	Domain
PF00028	Cadherin	2911 → 3002	Cadherin domain	Domain
PF00028	Cadherin	3016 → 3104	Cadherin domain	Domain
PF00028	Cadherin	3119 → 3209	Cadherin domain	Domain
PF00028	Cadherin	3223 → 3312	Cadherin domain	Domain
PF00028	Cadherin	3326 → 3417	Cadherin domain	Domain
PF00028	Cadherin	3431 → 3522	Cadherin domain	Domain
PF02210	Laminin_G_2	3800 → 3921	Laminin G domain	Domain
PF00008	EGF	3951 → 3982	EGF-like domain	Domain
PF00008	EGF	3990 → 4020	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in epidermal keratinocytes, infant brain, cerebellum, and also in a variety of tumors, such as pancreatic cancer, diffuse type gastric cancer, ovarian cancer, esophageal cancer, skin squamous cell carcinoma, head and neck can

Sequence

MTIALLGFAIFLLHCATCEKPLEGILSSSAWHFTHSHYNATIYENSSPKTYVESFEKMGI
YLAEPQWAVRYRIISGDVANVFKTEEYVVGNFCFLRIRTKSSNTALLNREVRDSYTLIIQ
ATEKTLELEALTRVVVHILDQNDLKPLFSPPSYRVTISEDMPLKSPICKVTATDADLGQN
AEFYYAFNTRSEMFAIHPTSGVVTVAGKLNVTWRGKHELQVLAVDRMRKISEGNGFGSLA
ALVVHVEPALRKPPAIASVVVTPPDSNDGTTYATVLVDANSSGAEVESVEVVGGDPGKHF
KAIKSYARSNEFSLVSVKDINWMEYLHGFNLSLQARSGSGPYFYSQIRGFHLPPSKLSSL
KFEKAVYRVQLSEFSPPGSRVVMVRVTPAFPNLQYVLKPSSENVGFKLNARTGLITTTKL
MDFHDRAHYQLHIRTSPGQASTVVVIDIVDCNNHAPLFNRSSYDGTLDENIPPGTSVLAV
TATDRDHGENGYVTYSIAGPKALPFSIDPYLGIISTSKPMDYELMKRIYTFRVRASDWGS
PFRREKEVSIFLQLRNLNDNQPMFEEVNCTGSIRQDWPVGKSIMTMSAIDVDELQNLKYE
IVSGNELEYFDLNHFSGVISLKRPFINLTAGQPTSYSLKITASDGKNYASPTTLNITVVK
DPHFEVPVTCDKTGVLTQFTKTILHFIGLQNQESSDEEFTSLSTYQINHYTPQFEDHFPQ
SIDVLESVPINTPLARLAATDPDAGFNGKLVYVIADGNEEGCFDIELETGLLTVAAPLDY
EATNFYILNVTVYDLGTPQKSSWKLLTVNVKDWNDNAPRFPPGGYQLTISEDTEVGTTIA
ELTTKDADSEDNGRVRYTLLSPTEKFSLHPLTGELVVTGHLDRESEPRYILKVEARDQPS
KGHQLFSVTDLIITLEDVNDNSPQCITEHNRLKVPEDLPPGTVLTFLDASDPDLGPAGEV
RYVLMDGAHGTFRVDLMTGALILERELDFERRAGYNLSLWASDGGRPLARRTLCHVEVIV
LDVNENLHPPHFASFVHQGQVQENSPSGTQVIVVAAQDDDSGLDGELQYFLRAGTGLAAF
SINQDTGMIQTLAPLDREFASYYWLTVLAVDRGSVPLSSVTEVYIEVTDANDNPPQMSQA
VFYPSIQEDAPVGTSVLQLDAWDPDSSSKGKLTFNITSGNYMGFFMIHPVTGLLSTAQQL
DRENKDEHILEVTVLDNGEPSLKSTSRVVVGILDVNDNPPIFSHKLFNVRLPERLSPVSP
GPVYRLVASDLDEGLNGRVTYSIEDSDEEAFSIDLVTGVVSSSSTFTAGEYNILTIKATD
SGQPPLSASVRLHIEWIPWPRPSSIPLAFDETYYSFTVMETDPVNHMVGVISVEGRPGLF
WFNISGGDKDMDFDIEKTTGSIVIARPLDTRRRSNYNLTVEVTDGSRTIATQVHIFMIAN
INHHRPQFLETRYEVRVPQDTVPGVELLRVQAIDQDKGKSLIYTIHGSQDPGSASLFQLD
PSSGVLVTVGKLDLGSGPSQHTLTVMVRDQEIPIKRNFVWVTIHVEDGNLHPPRFTQLHY
EASVPDTIAPGTELLQVRAMDADRGVNAEVHYSLLKGNSEGFFNINALLGIITLAQKLDQ
ANHAPHTLTVKAEDQGSPQWHDLATVIIHVYPSDRSAPIFSKSEYFVEIPESIPVGSPIL
LVSAMSPSEVTYELREGNKDGVFSMNSYSGLISTQKKLDHEKISSYQLKIRGSNMAGAFT
DVMVVVDIIDENDNAPMFLKSTFVGQISEAAPLYSMIMDKNNNPFVIHASDSDKEANSLL
VYKILEPEALKFFKIDPSMGTLTIVSEMDYESMPSFQFCVYVHDQGSPVLFAPRPAQVII
HVRDVNDSPPRFSEQIYEVAIVGPIHPGMELLMVRASDEDSEVNYSIKTGNADEAVTIHP
VTGSISVLNPAFLGLSRKLTIRASDGLYQDTALVKISLTQVLDKSLQFDQDVYWAAVKEN
LQDRKALVILGAQGNHLNDTLSYFLLNGTDMFHMVQSAGVLQTRGVAFDREQQDTHELAV
EVRDNRTPQRVAQGLVRVSIEDVNDNPPKFKHLPYYTIIQDGTEPGDVLFQVSATDEDLG
TNGAVTYEFAEDYTYFRIDPYLGDISLKKPFDYQALNKYHLKVIARDGGTPSLQSEEEVL
VTVRNKSNPLFQSPYYKVRVPENITLYTPILHTQARSPEGLRLIYNIVEEEPLMLFTTDF
KTGVLTVTGPLDYESKTKHVFTVRATDTALGSFSEATVEVLVEDVNDNPPTFSQLVYTTS
ISEGLPAQTPVIQLLASDQDSGRNRDVSYQIVEDGSDVSKFFQINGSTGEMSTVQELDYE
AQQHFHVKVRAMDKGDPPLTGETLVVVNVSDINDNPPEFRQPQYEANVSELATCGHLVLK
VQAIDPDSRDTSRLEYLILSGNQDRHFFINSSSGIISMFNLCKKHLDSSYNLRVGASDGV
FRATVPVYINTTNANKYSPEFQQHLYEAELAENAMVGTKVIDLLAIDKDSGPYGTIDYTI
INKLASEKFSINPNGQIATLQKLDRENSTERVIAIKVMARDGGGRVAFCTVKIILTDEND
NPPQFKASEYTVSIQSNVSKDSPVIQVLAYDADEGQNADVTYSVNPEDLVKDVIEINPVT
GVVKVKDSLVGLENQTLDFFIKAQDGGPPHWNSLVPVRLQVVPKKVSLPKFSEPLYTFSA
PEDLPEGSEIGIVKAVAAQDPVIYSLVRGTTPESNKDGVFSLDPDTGVIKVRKPMDHEST
KLYQIDVMAHCLQNTDVVSLVSVNIQVGDVNDNRPVFEADPYKAVLTENMPVGTSVIQVT
AIDKDTGRDGQVSYRLSADPGSNVHELFAIDSESGWITTLQELDCETCQTYHFHVVAYDH
GQTIQLSSQALVQVSITDENDNAPRFASEEYRGSVVENSEPGELVATLKTLDADISEQNR
QVTCYITEGDPLGQFGISQVGDEWRISSRKTLDREHTAKYLLRVTASDGKFQASVTVEIF
VLDVNDNSPQCSQLLYTGKVHEDVFPGHFILKVSATDLDTDTNAQITYSLHGPGAHEFKL
DPHTGELTTLTALDRERKDVFNLVAKATDGGGRSCQADITLHVEDVNDNAPRFFPSHCAV
AVFDNTTVKTPVAVVFARDPDQGANAQVVYSLPDSAEGHFSIDATTGVIRLEKPLQVRPQ
APLELTVRASDLGTPIPLSTLGTVTVSVVGLEDYLPVFLNTEHSVQVPEDAPPGTEVLQL
ATLTRPGAEKTGYRVVSGNEQGRFRLDARTGILYVNASLDFETSPKYFLSIECSRKSSSS
LSDVTTVMVNITDVNEHRPQFPQDPYSTRVLENALVGDVILTVSATDEDGPLNSDITYSL
IGGNQLGHFTIHPKKGELQVAKALDREQASSYSLKLRATDSGQPPLHEDTDIAIQVADVN
DNPPRFFQLNYSTTVQENSPIGSKVLQLILSDPDSPENGPPYSFRITKGNNGSAFRVTPD
GWLVTAEGLSRRAQEWYQLQIQASDSGIPPLSSLTSVRVHVTEQSHYAPSALPLEIFITV
GEDEFQGGMVGKIHATDRDPQDTLTYSLAEEETLGRHFSVGAPDGKIIAAQGLPRGHYSF
NVTVSDGTFTTTAGVHVYVWHVGQEALQQAMWMGFYQLTPEELVSDHWRNLQRFLSHKLD
IKRANIHLASLQPAEAVAGVDVLLVFEGHSGTFYEFQELASIITHSAKEMEHSVGVQMRS
AMPMVPCQGPTCQGQICHNTVHLDPKVGPTYSTARLSILTPRHHLQRSCSCNGTATRFSG
QSYVRYRAPAARNWHIHFYLKTLQPQAILLFTNETASVSLKLASGVPQLEYHCLGGFYGN
LSSQRHVNDHEWHSILVEEMDASIRLMVDSMGNTSLVVPENCRGLRPERHLLLGGLILLH
SSSNVSQGFEGCLDAVVVNEEALDLLAPGKTVAGLLETQALTQCCLHSDYCSQNTCLNGG
KCSWTHGAGYVCKCPPQFSGKHCEQGRENCTFAPCLEGGTCILSPKGASCNCPHPYTGDR
CEMEARGCSEGHCLVTPEIQRGDWGQQELLIITVAVAFIIISTVGLLFYCRRCKSHKPVA
MEDPDLLARSVGVDTQAMPAIELNPLSASSCNNLNQPEPSKASVPNELVTFGPNSKQRPV
VCSVPPRLPPAAVPSHSDNEPVIKRTWSSEEMVYPGGAMVWPPTYSRNERWEYPHSEVTQ
GPLPPSAHRHSTPVVMPEPNGLYGGFPFPLEMENKRAPLPPRYSNQNLEDLMPSRPPSPR
ERLVAPCLNEYTAISYYHSQFRQGGGGPCLADGGYKGVGMRLSRAGPSYAVCEVEGAPLA
GQGQPRVPPNYEGSDMVESDYGSCEEVMF

Sequence length

4349

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spinocerebellar ataxia 45	Likely pathogenic	rs2479961112	RCV003989958	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAT2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 45	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	26439923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25574603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27081041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36812126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27081041, 33658703, 35212236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36812126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29847346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27081041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29039967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24419231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23192925		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 45	Spinocerebellar Ataxia	UNIPROT_DG	29053796		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34308747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAT2 (FAT atypical cadherin 2)