FAT4 (FAT atypical cadherin 4)

Gene

• Entrez ID: 79633
• Gene name: FAT atypical cadherin 4
• Gene symbol: FAT4
• Synonyms (NCBI Gene): CDHF14, CDHR11, FAT-J, FATJ, HKLLS2, NBLA00548, VMLDS2
• Disease Acronyms (UniProt): HKLLS2, VMLDS2
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22153077
GO:0005886	Component	Plasma membrane	IEA
GO:0007009	Process	Plasma membrane organization	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:0007219	Process	Notch signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022008	Process	Neurogenesis	ISS
GO:0035329	Process	Hippo signaling	ISS
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072137	Process	Condensed mesenchymal cell proliferation	IEA
GO:0072307	Process	Regulation of metanephric nephron tubule epithelial cell differentiation	IEA
GO:0098609	Process	Cell-cell adhesion	IBA	21873635

Other IDs

• MIM: 612411
• HGNC: 23109
• e!Ensembl: ENSG00000196159

Protein

• UniProt ID: 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

Pathways

KEGG:

Hippo signaling pathway - multiple species

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	22484628
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	22484628
Cerebrofacioarticular syndrome	Van Maldergem Wetzburger Verloes syndrome, VAN MALDERGEM SYNDROME 2, Cerebrofacioarticular syndrome	rs483352917, rs483352918, rs483352919, rs398122953, rs398122954, rs398122955, rs370088878, rs398122956, rs398122957, rs963302668	24056717, 24913602
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25151357
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	22484628
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	rs121908250, rs121908251, rs121908252, rs563023244, rs121908254, rs398122955, rs587777724, rs587777725, rs587777726, rs1177851177, rs61757480, rs747975445	24913602, 29681106, 24056717
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	22197931
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Periventricular heterotopia	Heterotopia, Periventricular, Autosomal Recessive	rs398122523, rs1555811929, rs1600623496, rs1380925561	24056717
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	rs398122410, rs1557177663, rs1557179349, rs1554054827, rs1554054831, rs1554054880, rs879036238, rs1558087795, rs1558087712, rs1580027036, rs1571844539, rs1580026238, rs2046707868, rs2059194330
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Subcortical band heterotopia	Subcortical Band Heterotopia	rs121434484, rs121434488, rs121434489
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Cerebrofacioarticular Syndrome	van Maldergem syndrome			GenCC
Multiple Congenital Anomalies	multiple congenital anomalies/dysmorphic syndrome-intellectual disability			GenCC
Hennekam Syndrome	Hennekam syndrome			GenCC
Coronary artery disease	Coronary artery disease			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	22143938, 35212236, 35770846
Breast Neoplasms	Inhibit	25679223
Breast Neoplasms	Associate	29321622, 33899544, 36051999, 36404592
Carcinogenesis	Associate	25679223
Carcinoma Acinar Cell	Associate	25743105
Carcinoma Basal Cell	Associate	33928395
Carcinoma Embryonal	Associate	36713456
Carcinoma Hepatocellular	Associate	26672766, 37735184
Carcinoma Hepatocellular	Inhibit	31395065
Carcinoma Lobular	Associate	27811364
Carcinoma Non Small Cell Lung	Associate	35212236, 35770846
Carcinoma Renal Cell	Associate	36051999
Carcinoma Squamous Cell	Associate	35212236, 35770846
Cleft Lip	Associate	34130359
Colonic Neoplasms	Associate	34790819
Colorectal Neoplasms	Associate	24951259, 28551381, 33063118, 33714943, 33836681, 37096801
Death	Inhibit	37735184
Endometrial Neoplasms	Associate	33536036
Glioblastoma	Associate	40362575
Hemangiosarcoma	Associate	40474296
Hemorrhage	Associate	36264285
Leukemia Myelomonocytic Chronic	Associate	26648538
Lung Neoplasms	Associate	38163953
Lymphoma	Associate	34166375
Lymphoma B Cell Marginal Zone	Associate	24349473
Lymphoma Large B Cell Diffuse	Associate	36811800
Melanoma	Inhibit	25679223
Melanoma	Associate	30791119, 37466203, 38383070
Neoplasm Metastasis	Associate	31341365, 32366234, 35770846
Neoplasms	Associate	22143938, 24150215, 24951259, 25743105, 26352260, 26672766, 31199602, 31312661, 31341365, 31395065, 33525650, 35212236, 35770846, 36051999, 36779847
Neoplasms	Inhibit	25679223, 30531873, 32366234
Neoplastic Syndromes Hereditary	Associate	33525650
Orofacial Cleft 1	Associate	34130359
Otitis Media	Associate	33693626
Ovarian Neoplasms	Associate	25545608
Ovarian Neoplasms	Inhibit	32366234
Polycystic Kidney Autosomal Dominant	Associate	29687770
Precancerous Conditions	Associate	33063118
Prostatic Neoplasms	Associate	28700469
Pseudomyxoma Peritonei	Associate	29936255
Respiratory Tract Infections	Associate	36818471
Retinoblastoma	Associate	32366234
Small Cell Lung Carcinoma	Associate	31199602
Stomach Neoplasms	Associate	31312661, 32034058, 33511732, 33525650, 36970058
Ureteral Neoplasms	Associate	36818471
Urethral Neoplasms	Associate	33588785
Urinary Bladder Neoplasms	Associate	36051999, 36818471