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	79633
Gene name	FAT atypical cadherin 4
Gene symbol	FAT4
Synonyms (NCBI Gene)	CDHF14CDHR11FAT-JFATJHKLLS2NBLA00548VMLDS2
Chromosome	4
Chromosome location	4q28.1
Summary	The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene ha

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35845544	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs78040862	T>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138019311	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, synonymous variant
rs144476127	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144922340	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs147297895	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs191329848	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Missense variant, intron variant, coding sequence variant
rs199682210	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs202216461	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs370088878	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs398122953	G>T	Pathogenic	Coding sequence variant, missense variant
rs398122954	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122955	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122956	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122957	C>T	Pathogenic	Coding sequence variant, stop gained
rs567305960	C>G,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs587777724	->TGGAAC	Pathogenic	Inframe insertion, coding sequence variant
rs587777725	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs587777726	A>C,G	Pathogenic	Splice acceptor variant, missense variant, coding sequence variant, synonymous variant
rs963302668	G>T	Pathogenic	Splice donor variant
rs1064793943	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1085307886	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553931042	A>T	Likely-pathogenic	Stop gained, coding sequence variant

149

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021819	hsa-miR-132-3p	Microarray	17612493
MIRT989937	hsa-miR-105	CLIP-seq
MIRT989938	hsa-miR-125a-5p	CLIP-seq
MIRT989939	hsa-miR-125b	CLIP-seq
MIRT989940	hsa-miR-1305	CLIP-seq
MIRT989941	hsa-miR-144	CLIP-seq
MIRT989942	hsa-miR-299-5p	CLIP-seq
MIRT989943	hsa-miR-3143	CLIP-seq
MIRT989944	hsa-miR-3658	CLIP-seq
MIRT989945	hsa-miR-3659	CLIP-seq
MIRT989946	hsa-miR-3662	CLIP-seq
MIRT989947	hsa-miR-3671	CLIP-seq
MIRT989948	hsa-miR-369-3p	CLIP-seq
MIRT989949	hsa-miR-374c	CLIP-seq
MIRT989950	hsa-miR-3941	CLIP-seq
MIRT989951	hsa-miR-4319	CLIP-seq
MIRT989952	hsa-miR-4501	CLIP-seq
MIRT989953	hsa-miR-4643	CLIP-seq
MIRT989954	hsa-miR-466	CLIP-seq
MIRT989955	hsa-miR-4672	CLIP-seq
MIRT989956	hsa-miR-4732-3p	CLIP-seq
MIRT989957	hsa-miR-4766-5p	CLIP-seq
MIRT989958	hsa-miR-4789-3p	CLIP-seq
MIRT989959	hsa-miR-494	CLIP-seq
MIRT989960	hsa-miR-509-3p	CLIP-seq
MIRT989961	hsa-miR-545	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT989974	hsa-miR-582-5p	CLIP-seq
MIRT989975	hsa-miR-607	CLIP-seq
MIRT989976	hsa-miR-624	CLIP-seq
MIRT989977	hsa-miR-655	CLIP-seq
MIRT989978	hsa-miR-670	CLIP-seq
MIRT989979	hsa-miR-891b	CLIP-seq
MIRT989937	hsa-miR-105	CLIP-seq
MIRT2227267	hsa-miR-103a	CLIP-seq
MIRT2227268	hsa-miR-107	CLIP-seq
MIRT2227269	hsa-miR-15a	CLIP-seq
MIRT2227270	hsa-miR-15b	CLIP-seq
MIRT2227271	hsa-miR-16	CLIP-seq
MIRT2227272	hsa-miR-195	CLIP-seq
MIRT2227273	hsa-miR-214	CLIP-seq
MIRT2227274	hsa-miR-34a	CLIP-seq
MIRT2227275	hsa-miR-34c-5p	CLIP-seq
MIRT2227276	hsa-miR-3619-5p	CLIP-seq
MIRT2227277	hsa-miR-424	CLIP-seq
MIRT2227278	hsa-miR-4255	CLIP-seq
MIRT2227279	hsa-miR-4289	CLIP-seq
MIRT2227280	hsa-miR-4291	CLIP-seq
MIRT2227281	hsa-miR-4310	CLIP-seq
MIRT2227282	hsa-miR-449a	CLIP-seq
MIRT2227283	hsa-miR-449b	CLIP-seq
MIRT2227284	hsa-miR-497	CLIP-seq
MIRT2227285	hsa-miR-627	CLIP-seq
MIRT2227286	hsa-miR-761	CLIP-seq
MIRT2227287	hsa-miR-922	CLIP-seq
MIRT2227288	hsa-miR-924	CLIP-seq
MIRT2428745	hsa-miR-101	CLIP-seq
MIRT989941	hsa-miR-144	CLIP-seq
MIRT2428746	hsa-miR-4422	CLIP-seq
MIRT2428747	hsa-miR-520d-5p	CLIP-seq
MIRT2428748	hsa-miR-524-5p	CLIP-seq
MIRT2428749	hsa-miR-567	CLIP-seq
MIRT2437199	hsa-miR-208a	CLIP-seq
MIRT2437200	hsa-miR-208b	CLIP-seq
MIRT2437201	hsa-miR-3617	CLIP-seq
MIRT989944	hsa-miR-3658	CLIP-seq
MIRT2437202	hsa-miR-499-5p	CLIP-seq
MIRT2437203	hsa-miR-641	CLIP-seq
MIRT2531177	hsa-miR-1470	CLIP-seq
MIRT2531178	hsa-miR-203	CLIP-seq
MIRT2531179	hsa-miR-3163	CLIP-seq
MIRT2531180	hsa-miR-340	CLIP-seq
MIRT2531181	hsa-miR-3920	CLIP-seq
MIRT2531182	hsa-miR-3973	CLIP-seq
MIRT2531183	hsa-miR-4446-5p	CLIP-seq
MIRT2531184	hsa-miR-4667-3p	CLIP-seq
MIRT2531185	hsa-miR-4755-5p	CLIP-seq
MIRT2531186	hsa-miR-4795-3p	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT2531187	hsa-miR-561	CLIP-seq
MIRT2531188	hsa-miR-595	CLIP-seq
MIRT2531189	hsa-miR-642a	CLIP-seq
MIRT2531190	hsa-miR-653	CLIP-seq
MIRT2680798	hsa-miR-1225-5p	CLIP-seq
MIRT2531177	hsa-miR-1470	CLIP-seq
MIRT2531178	hsa-miR-203	CLIP-seq
MIRT2680799	hsa-miR-2053	CLIP-seq
MIRT2680800	hsa-miR-3126-3p	CLIP-seq
MIRT2680801	hsa-miR-3148	CLIP-seq
MIRT2531179	hsa-miR-3163	CLIP-seq
MIRT2531180	hsa-miR-340	CLIP-seq
MIRT2531181	hsa-miR-3920	CLIP-seq
MIRT2531182	hsa-miR-3973	CLIP-seq
MIRT2680802	hsa-miR-3978	CLIP-seq
MIRT2531183	hsa-miR-4446-5p	CLIP-seq
MIRT2531184	hsa-miR-4667-3p	CLIP-seq
MIRT2531185	hsa-miR-4755-5p	CLIP-seq
MIRT989957	hsa-miR-4766-5p	CLIP-seq
MIRT2531186	hsa-miR-4795-3p	CLIP-seq
MIRT2680803	hsa-miR-548a-3p	CLIP-seq
MIRT989962	hsa-miR-548a-5p	CLIP-seq
MIRT989963	hsa-miR-548ab	CLIP-seq
MIRT2680804	hsa-miR-548ac	CLIP-seq
MIRT2680805	hsa-miR-548ae	CLIP-seq
MIRT2680806	hsa-miR-548aj	CLIP-seq
MIRT989964	hsa-miR-548ak	CLIP-seq
MIRT2680807	hsa-miR-548am	CLIP-seq
MIRT989965	hsa-miR-548b-5p	CLIP-seq
MIRT989966	hsa-miR-548c-5p	CLIP-seq
MIRT2680808	hsa-miR-548d-3p	CLIP-seq
MIRT989967	hsa-miR-548d-5p	CLIP-seq
MIRT2680809	hsa-miR-548e	CLIP-seq
MIRT2680810	hsa-miR-548f	CLIP-seq
MIRT989968	hsa-miR-548h	CLIP-seq
MIRT989969	hsa-miR-548i	CLIP-seq
MIRT989970	hsa-miR-548j	CLIP-seq
MIRT2680811	hsa-miR-548t	CLIP-seq
MIRT989971	hsa-miR-548w	CLIP-seq
MIRT2680812	hsa-miR-548x	CLIP-seq
MIRT989972	hsa-miR-548y	CLIP-seq
MIRT2680813	hsa-miR-548z	CLIP-seq
MIRT989973	hsa-miR-559	CLIP-seq
MIRT2531187	hsa-miR-561	CLIP-seq
MIRT2680814	hsa-miR-569	CLIP-seq
MIRT2531188	hsa-miR-595	CLIP-seq
MIRT2531189	hsa-miR-642a	CLIP-seq
MIRT2531190	hsa-miR-653	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22153077
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007409	Process	Axonogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022008	Process	Neurogenesis	ISS
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0035329	Process	Hippo signaling	ISS
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0048699	Process	Generation of neurons	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
612411	23109	ENSG00000196159

Q6V0I7

Protein name

Protocadherin Fat 4 (hFat4) (Cadherin family member 14) (FAT tumor suppressor homolog 4) (Fat-like cadherin protein FAT-J)

Protein function

Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).

PDB

8EGW , 8EGX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	140 → 241	Cadherin domain	Domain
PF00028	Cadherin	255 → 344	Cadherin domain	Domain
PF00028	Cadherin	363 → 466	Cadherin domain	Domain
PF00028	Cadherin	480 → 573	Cadherin domain	Domain
PF00028	Cadherin	588 → 680	Cadherin domain	Domain
PF00028	Cadherin	694 → 784	Cadherin domain	Domain
PF00028	Cadherin	798 → 884	Cadherin domain	Domain
PF00028	Cadherin	898 → 987	Cadherin domain	Domain
PF00028	Cadherin	1001 → 1091	Cadherin domain	Domain
PF00028	Cadherin	1105 → 1201	Cadherin domain	Domain
PF00028	Cadherin	1215 → 1306	Cadherin domain	Domain
PF00028	Cadherin	1321 → 1411	Cadherin domain	Domain
PF00028	Cadherin	1427 → 1520	Cadherin domain	Domain
PF00028	Cadherin	1538 → 1622	Cadherin domain	Domain
PF00028	Cadherin	1746 → 1832	Cadherin domain	Domain
PF00028	Cadherin	1846 → 1935	Cadherin domain	Domain
PF00028	Cadherin	1949 → 2042	Cadherin domain	Domain
PF00028	Cadherin	2055 → 2145	Cadherin domain	Domain
PF00028	Cadherin	2159 → 2250	Cadherin domain	Domain
PF00028	Cadherin	2264 → 2355	Cadherin domain	Domain
PF00028	Cadherin	2369 → 2457	Cadherin domain	Domain
PF00028	Cadherin	2471 → 2558	Cadherin domain	Domain
PF00028	Cadherin	2572 → 2660	Cadherin domain	Domain
PF00028	Cadherin	2674 → 2764	Cadherin domain	Domain
PF00028	Cadherin	2777 → 2863	Cadherin domain	Domain
PF00028	Cadherin	2877 → 2974	Cadherin domain	Domain
PF00028	Cadherin	2988 → 3080	Cadherin domain	Domain
PF00028	Cadherin	3094 → 3185	Cadherin domain	Domain
PF00028	Cadherin	3199 → 3289	Cadherin domain	Domain
PF00028	Cadherin	3303 → 3396	Cadherin domain	Domain
PF00028	Cadherin	3409 → 3501	Cadherin domain	Domain
PF00028	Cadherin	3513 → 3605	Cadherin domain	Domain
PF07645	EGF_CA	3862 → 3898	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	3900 → 3942	Calcium-binding EGF domain	Domain
PF12661	hEGF	3947 → 3965	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	4002 → 4142	Laminin G domain	Domain
PF02210	Laminin_G_2	4250 → 4374	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer. {ECO:0000269|PubMed:15003449, ECO:0000269|PubMed:16865240}.

Sequence

MDLAPDRATGRPWLPLHTLSVSQLLRVFWLLSLLPGQAWVHGAEPRQVFQVLEEQPPGTL
VGTIQTRPGFTYRLSESHALFAINSSTGALYTTSTIDRESLPSDVINLVVLSSAPTYPTE
VRVLVRDLNDNAPVFPDPSIVVTFKEDSSSGRQVILDTATDSDIGSNGVDHRSYRIIRGN
EAGRFRLDITLNPSGEGAFLHLVSKGGLDREVTPQYQLLVEVEDKGEPKRRGYLQVNVTV
QDINDNPPVFGSSHYQAGVPEDAVVGSSVLQVAAADADEGTNADIRYRLQDEGTPFQMDP
ETGLITVREPLDFEARRQYSLTVQAMDRGVPSLTGRAEALIQLLDVNDNDPVVKFRYFPA
TSRYASVDENAQVGTVVALLTVTDADSPAANGNISVQILGGNEQRHFEVQSSKVPNLSLI
KVASALDRERIPSYNLTVSVSDNYGAPPGAAVQARSSVASLVIFVNDINDHPPVFSQQVY
RVNLSEEAPPGSYVSGISATDGDSGLNANLRYSIVSGNGLGWFHISEHSGLVTTGSSGGL
DRELASQIVLNISARDQGVHPKVSYAQLVVTLLDVNDEKPVFSQPEGYDVSVVENAPTGT
ELLMLRATDGDLGDNGTVRFSLQEAETDRRSFRLDPVSGRLSTISSLDREEQAFYSLLVL
ATDLGSPPQSSMARINVSLLDINDNSPVFYPVQYFAHIKENEPGGSYITTVSATDPDLGT
NGTVKYSISAGDRSRFQVNAQSGVISTRMALDREEKTAYQLQIVATDGGNLQSPNQAIVT
ITVLDTQDNPPVFSQVAYSFVVFENVALGYHVGSVSASTMDLNSNISYLITTGDQKGMFA
INQVTGQLTTANVIDREEQSFYQLKVVASGGTVTGDTMVNITVKDLNDNSPHFLQAIESV
NVVENWQAGHSIFQAKAVDPDEGVNGMVLYSLKQNPKNLFAINEKNGTISLLGPLDVHAG
SYQIEILASDMGVPQLSSSVILTVYVHDVNDNSPVFDQLSYEVTLSESEPVNSRFFKVQA
SDKDSGANGEIAYTIAEGNTGDAFGIFPDGQLYIKSELDRELQDRYVLMVVASDRAVEPL
SATVNVTVILEDVNDNRPLFNSTNYTFYFEEEQRAGSFVGKVSAVDKDFGPNGEVRYSFE
MVQPDFELHAISGEITNTHQFDRESLMRRRGTAVFSFTVIATDQGIPQPLKDQATVHVYM
KDINDNAPKFLKDFYQATISESAANLTQVLRVSASDVDEGNNGLIHYSIIKGNEERQFAI
DSTSGQVTLIGKLDYEATPAYSLVIQAVDSGTIPLNSTCTLNIDILDENDNTPSFPKSTL
FVDVLENMRIGELVSSVTATDSDSGDNADLYYSITGTNNHGTFSISPNTGSIFLAKKLDF
ETQSLYKLNITAKDQGRPPRSSTMSVVIHVRDFNDNPPSFPPGDIFKSIVENIPIGTSVI
SVTAHDPDADINGQLSYTIIQQMPRGNHFTIDEVKGTIYTNAEIDREFANLFELTVKAND
QAVPIETRRYALKNVTILVTDLNDNVPMFISQNALAADPSAVIGSVLTTIMAADPDEGAN
GEIEYEIINGDTDTFIVDRYSGDLRVASALVPSQLIYNLIVSATDLGPERRKSTTELTII
LQGLDGPVFTQPKYITILKEGEPIGTNVISIEAASPRGSEAPVEYYIVSVRCEEKTVGRL
FTIGRHTGIIQTAAILDREQGACLYLVDVYAIEKSTAFPRTQRAEVEITLQDINDNPPVF
PTDMLDLTVEENIGDGSKIMQLTAMDADEGANALVTYTIISGADDSFRIDPESGDLIATR
RLDRERRSKYSLLVRADDGLQSSDMRINITVSDVNDHTPKFSRPVYSFDIPEDTIPGSLV
AAILATDDDSGVNGEITYIVNEDDEDGIFFLNPITGVFNLTRLLDYEVQQYYILTVRAED
GGGQFTTIRVYFNILDVNDNPPIFSLNSYSTSLMENLPVGSTVLVFNVTDADDGINSQLT
YSIASGDSLGQFTVDKNGVLKVLKALDRESQSFYNLVVQVHDLPQIPASRFTSTAQVSII
LLDVNDNPPTFLSPKLTYIPENTPIDTVVFKAQATDPDSGPNSYIEYTLLNPLGNKFSIG
TIDGEVRLTGELDREEVSNYTLTVVATDKGQPSLSSSTEVVVMVLDINDNNPIFAQALYK
VEINENTLTGTDIIQVFAADGDEGTNGQVRYGIVNGNTNQEFRIDSVTGAITVAKPLDRE
KTPTYHLTVQATDRGSTPRTDTSTVSIVLLDINDFVPVFELSPYSVNVPENLGTLPRTIL
QVVARDDDRGSNSKLSYVLFGGNEDNAFTLSASGELGVTQSLDRETKERFVLMITATDSG
SPALTGTGTINVIVDDVNDNVPTFASKAYFTTIPEDAPTGTDVLLVNASDADASKNAVIR
IIGGNSQFTINPSTGQIITSALLDRETKDNYTLVVVCSDAGSPEPLSSSTSVLVTVTDVN
DNPPRFQHHPYVTHIPSPTLPGSFVFAVTVTDADIGPNSELHYSLSGRNSEKFHIDPLRG
AIMAAGPLNGASEVTFSVHVKDGGSFPKTDSTTVTVRFVNKADFPKVRAKEQTFMFPENQ
PVSSLVTTITGSSLRGEPMSYYIASGNLGNTFQIDQLTGQVSISQPLDFEKIQKYVVWIE
ARDGGFPPFSSYEKLDITVLDVNDNAPIFKEDPFISEILENLSPRKILTVSAMDKDSGPN
GQLDYEIVNGNMENSFSINHATGEIRSVRPLDREKVSHYVLTIKSSDKGSPSQSTSVKVM
INILDENDNAPRFSQIFSAHVPENSPLGYTVTRVTTSDEDIGINAISRYSIMDASLPFTI
NPSTGDIVISRPLNREDTDRYRIRVSAHDSGWTVSTDVTIFVTDINDNAPRFSRTSYYLD
CPELTEIGSKVTQVFATDPDEGSNGQVFYFIKSQSEYFRINATTGEIFNKQILKYQNVTG
FSNVNINRHSFIVTSSDRGKPSLISETTVTINIVDSNDNAPQFLKSKYFTPVTKNVKVGT
KLIRVTAIDDKDFGLNSEVEYFISNDNHLGKFKLDNDTGWISVASSLISDLNQNFFITVT
AKDKGNPPLSSQATVHITVTEENYHTPEFSQSHMSATIPESHSIGSIVRTVSARDRDAAM
NGLIKYSISSGNEEGIFAINSSTGILTLAKALDYELCQKHEMTISAIDGGWVARTGYCSV
TVNVIDVNDNSPVFLSDDYFPTVLENAPSGTTVIHLNATDADSGTNAVIAYTVQSSDSDL
FVIDPNTGVITTQGFLDFETKQSYHLTVKAFNVPDEERCSFATVNIQLKGTNEYVPRFVS
KLYYFEISEAAPKGTIVGEVFASDRDLGTDGEVHYLIFGNSRKKGFQINKKTGQIYVSGI
LDREKEERVSLKVLAKNFGSIRGADIDEVTVNVTVLDANDPPIFTLNIYSVQISEGVPIG
THVTFVSAFDSDSIPSWSRFSYFIGSGNENGAFSINPQTGQITVTAELDRETLPIYNLSV
LAVDSGTPSATGSASLLVTLEDINDNGPMLTVSEGEVMENKRPGTLVMTLQSTDPDLPPN
QGPFTYYLLSTGPATSYFSLSTAGVLSTTREIDREQIADFYLSVVTKDSGVPQMSSTGTV
HITVIDQNDNPSQSRTVEIFVNYYGNLFPGGILGSVKPQDPDVLDSFHCSLTSGVTSLFS
IPGGTCDLNSQPRSTDGTFDLTVLSNDGVHSTVTSNIRVFFAGFSNATVDNSILLRLGVP
TVKDFLTNHYLHFLRIASSQLTGLGTAVQLYSAYEENNRTFLLAAVKRNHNQYVNPSGVA
TFFESIKEILLRQSGVKVESVDHDSCVHGPCQNGGSCLRRLAVSSVLKSRESLPVIIVAN
EPLQPFLCKCLPGYAGSWCEIDIDECLPSPCHSGGTCHNLVGGFSCSCPDGFTGRACERD
INECLQSPCKNGAICQNFPGSFNCVCKTGYTGKMCESSVNYCECNPCFNGGSCQSGVDSY
YCHCPFGVFGKHCELNSYGFEELSYMEFPSLDPNNNYIYVKFATIKSHALLLYNYDNQTG
DRAEFLALEIAEERLRFSYNLGSGTYKLTTMKKVSDGHFHTVIARRAGMAASLTVDSCSE
NQEPGYCTVSNVAVSDDWTLDVQPNRVTVGGIRSLEPILQRRGHVESHDFVGCIMEFAVN
GRPLEPSQALAAQGILDQCPRLEGACTRSPCQHGGTCMDYWSWQQCHCKEGLTGKYCEKS
VTPDTALSLEGKGRLDYHMSQNEKREYLLRQSLRGAMLEPFGVNSLEVKFRTRSENGVLI
HIQESSNYTTVKIKNGKVYFTSDAGIAGKVERNIPEVYVADGHWHTFLIGKNGTATVLSV
DRIYNRDIIHPTQDFGGLDVLTISLGGIPPNQAHRDAQTAGFDGCIASMWYGGESLPFSG
KHSLASISKTDPSVKIGCRGPNICASNPCWGDLLCINQWYAYRCVPPGDCASHPCQNGGS
CEPGLHSGFTCSCPDSHTGRTCEMVVACLGVLCPQGKVCKAGSPAGHVCVLSQGPEEISL
PLWAVPAIVGSCATVLALLVLSLILCNQCRGKKAKNPKEEKKPKEKKKKGSENVAFDDPD
NIPPYGDDMTVRKQPEGNPKPDIIERENPYLIYDETDIPHNSETIPSAPLASPEQEIEHY
DIDNASSIAPSDADIIQHYKQFRSHTPKFSIQRHSPLGFARQSPMPLGASSLTYQPSYGQ
GLRTSSLSHSACPTPNPLSRHSPAPFSKSSTFYRNSPARELHLPIRDGNTLEMHGDTCQP
GIFNYATRLGRRSKSPQAMASHGSRPGSRLKQPIGQIPLESSPPVGLSIEEVERLNTPRP
RNPSICSADHGRSSSEEDCRRPLSRTRNPADGIPAPESSSDSDSHESFTCSEMEYDREKP
MVYTSRMPKLSQVNESDADDEDNYGARLKPRRYHGRRAEGGPVGTQAAAPGTADNTLPMK
LGQQAGTFNWDNLLNWGPGFGHYVDVFKDLASLPEKAAANEEGKAGTTKPVPKDGEAEQY
V

Sequence length

4981

Interactions

View interactions

	KEGG
	Hippo signaling pathway - multiple species

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FAT4-related disorder	Likely pathogenic	rs2530424559	RCV003406071	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hennekam lymphangiectasia-lymphedema syndrome 2	Pathogenic; Likely pathogenic	rs587777724, rs587777725, rs587777726, rs2126083898, rs2530083642, rs398122955	RCV000144158 RCV000144159 RCV000144161 RCV002274857 RCV002280920 RCV000144157 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van Maldergem syndrome	Likely pathogenic; Pathogenic	rs567305960	RCV000825521	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Van Maldergem syndrome 2	Likely pathogenic; Pathogenic	rs1735081763, rs963302668, rs398122953, rs398122954, rs398122955, rs370088878, rs398122956, rs398122957, rs2126029076	RCV002291365 RCV000761486 RCV000074488 RCV000074489 RCV000074490 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (45)

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.
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Capillary infantile hemangioma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROFACIOARTICULAR SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENNEKAM LYMPHANGIECTASIA LYMPHEDEMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HENNEKAM SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES, CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Maldergem syndrome 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN MALDERGEM WETZBURGER VERLOES SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (142)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral choanal atresia/stenosis	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23076869, 30546116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25679223	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29321622, 33899544, 36051999, 36404592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25679223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	36713456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26672766, 37735184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31395065	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27811364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23076869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36051999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35212236, 35770846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrofacioarticular syndrome	Cerebrofacioarticular Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip	Cleft lip	Pubtator	34130359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34790819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24951259, 30832706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24951259, 28551381, 33063118, 33714943, 33836681, 37096801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24558106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	CTD_human_DG	18604206		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	CTD_human_DG	18604206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31217854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33536036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23319386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23319386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	27696226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40362575	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	40474296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36264285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	ORPHANET_DG	24913602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	BEFREE	28488382		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	Hennekam lymphangiectasia-lymphedema syndrome	GENOMICS_ENGLAND_DG	24056717, 24913602, 29681106		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	Hennekam lymphangiectasia-lymphedema syndrome	UNIPROT_DG	24913602		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	Hennekam lymphangiectasia-lymphedema syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hennekam syndrome	Hennekam Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotopia, Periventricular, Autosomal Recessive	Periventricular heterotopia	CTD_human_DG	24056717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	26648538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23076869, 31395065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38163953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19048595, 23076869, 30546116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31217854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23319386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23076869, 25679223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22484628, 24744582, 26575609, 26633557, 26792292, 29435168, 31297980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	22484628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19048595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19048595		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22197931		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	23076869, 25679223		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	25679223	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	30791119, 37466203, 38383070	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19048595, 22143938, 23076869, 25679223, 25743105, 26575609, 26633557, 26672766, 26792292, 27696226, 28488382, 30832706, 31217854, 31395065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	34130359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25545608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32366234	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular gray matter heterotopia	Periventricular gray matter heterotopia	BEFREE	24056717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular gray matter heterotopia	Periventricular gray matter heterotopia	GENOMICS_ENGLAND_DG	24056717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	30858616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29687770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28700469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32366234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24744582, 26575609, 26633557, 26792292, 29435168, 31297980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	22484628		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	22484628		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	31312661, 32034058, 33511732, 33525650, 36970058	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcortical Band Heterotopia	Subcortical Band Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36051999, 36818471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VAN MALDERGEM SYNDROME 2	Cerebrofacioarticular Syndrome	GENOMICS_ENGLAND_DG	24056717, 24913602		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN MALDERGEM SYNDROME 2	Cerebrofacioarticular Syndrome	UNIPROT_DG	24056717		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN MALDERGEM SYNDROME 2	Cerebrofacioarticular Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	CTD_human_DG	24056717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	ORPHANET_DG	24056717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	BEFREE	24913602, 25930014, 28488382, 29681106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FAT4 (FAT atypical cadherin 4)