Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	22839
Gene name	DLG associated protein 4
Gene symbol	DLGAP4
Synonyms (NCBI Gene)	DAP-4DAP4DLP4SAPAP-4SAPAP4
Chromosome	20
Chromosome location	20q11.23
Summary	The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein e

310 Show/Hide all (310)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028927	hsa-miR-26b-5p	Microarray	19088304
MIRT052886	hsa-miR-3909	CLASH	23622248
MIRT478090	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT478089	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT478088	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT478087	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT478086	hsa-miR-4306	PAR-CLIP	23592263
MIRT478084	hsa-miR-4644	PAR-CLIP	23592263
MIRT478085	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT478083	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT478082	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT440807	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440807	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT478090	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT478089	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT478088	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT478087	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT478086	hsa-miR-4306	PAR-CLIP	23592263
MIRT478084	hsa-miR-4644	PAR-CLIP	23592263
MIRT478085	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT478083	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT478082	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT938638	hsa-miR-1285	CLIP-seq
MIRT938639	hsa-miR-296-5p	CLIP-seq
MIRT938640	hsa-miR-3187-5p	CLIP-seq
MIRT938641	hsa-miR-4257	CLIP-seq
MIRT938642	hsa-miR-4505	CLIP-seq
MIRT938643	hsa-miR-485-5p	CLIP-seq
MIRT938644	hsa-miR-612	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT938646	hsa-miR-1207-5p	CLIP-seq
MIRT938647	hsa-miR-1228	CLIP-seq
MIRT938648	hsa-miR-1229	CLIP-seq
MIRT938649	hsa-miR-1269	CLIP-seq
MIRT938650	hsa-miR-1269b	CLIP-seq
MIRT938651	hsa-miR-1288	CLIP-seq
MIRT938652	hsa-miR-1321	CLIP-seq
MIRT938653	hsa-miR-2110	CLIP-seq
MIRT938654	hsa-miR-30a	CLIP-seq
MIRT938655	hsa-miR-30b	CLIP-seq
MIRT938656	hsa-miR-30c	CLIP-seq
MIRT938657	hsa-miR-30d	CLIP-seq
MIRT938658	hsa-miR-30e	CLIP-seq
MIRT938659	hsa-miR-3126-5p	CLIP-seq
MIRT938660	hsa-miR-3153	CLIP-seq
MIRT938661	hsa-miR-3173-3p	CLIP-seq
MIRT938662	hsa-miR-3184	CLIP-seq
MIRT938663	hsa-miR-3192	CLIP-seq
MIRT938664	hsa-miR-3199	CLIP-seq
MIRT938665	hsa-miR-320a	CLIP-seq
MIRT938666	hsa-miR-320b	CLIP-seq
MIRT938667	hsa-miR-320c	CLIP-seq
MIRT938668	hsa-miR-320d	CLIP-seq
MIRT938669	hsa-miR-320e	CLIP-seq
MIRT938670	hsa-miR-329	CLIP-seq
MIRT938671	hsa-miR-342-3p	CLIP-seq
MIRT938672	hsa-miR-3613-3p	CLIP-seq
MIRT938673	hsa-miR-362-3p	CLIP-seq
MIRT938674	hsa-miR-3647-3p	CLIP-seq
MIRT938675	hsa-miR-3665	CLIP-seq
MIRT938676	hsa-miR-3689a-3p	CLIP-seq
MIRT938677	hsa-miR-3689c	CLIP-seq
MIRT938678	hsa-miR-3941	CLIP-seq
MIRT938679	hsa-miR-3974	CLIP-seq
MIRT938680	hsa-miR-423-5p	CLIP-seq
MIRT938681	hsa-miR-4271	CLIP-seq
MIRT938682	hsa-miR-4294	CLIP-seq
MIRT938683	hsa-miR-4429	CLIP-seq
MIRT938684	hsa-miR-4433	CLIP-seq
MIRT938685	hsa-miR-4436b-3p	CLIP-seq
MIRT938686	hsa-miR-4515	CLIP-seq
MIRT938687	hsa-miR-4529-3p	CLIP-seq
MIRT938688	hsa-miR-4667-5p	CLIP-seq
MIRT938689	hsa-miR-4688	CLIP-seq
MIRT938690	hsa-miR-4700-5p	CLIP-seq
MIRT938691	hsa-miR-4706	CLIP-seq
MIRT938692	hsa-miR-4725-3p	CLIP-seq
MIRT938693	hsa-miR-4728-5p	CLIP-seq
MIRT938694	hsa-miR-4729	CLIP-seq
MIRT938695	hsa-miR-4731-5p	CLIP-seq
MIRT938696	hsa-miR-4736	CLIP-seq
MIRT938697	hsa-miR-4739	CLIP-seq
MIRT938698	hsa-miR-4740-5p	CLIP-seq
MIRT938699	hsa-miR-4749-5p	CLIP-seq
MIRT938700	hsa-miR-4756-5p	CLIP-seq
MIRT938701	hsa-miR-4761-5p	CLIP-seq
MIRT938702	hsa-miR-4763-3p	CLIP-seq
MIRT938703	hsa-miR-4777-3p	CLIP-seq
MIRT938704	hsa-miR-4779	CLIP-seq
MIRT938705	hsa-miR-4781-5p	CLIP-seq
MIRT938706	hsa-miR-516b	CLIP-seq
MIRT938707	hsa-miR-542-5p	CLIP-seq
MIRT938708	hsa-miR-603	CLIP-seq
MIRT938709	hsa-miR-643	CLIP-seq
MIRT938710	hsa-miR-648	CLIP-seq
MIRT938711	hsa-miR-711	CLIP-seq
MIRT938712	hsa-miR-764	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT938646	hsa-miR-1207-5p	CLIP-seq
MIRT938713	hsa-miR-1304	CLIP-seq
MIRT938714	hsa-miR-1827	CLIP-seq
MIRT938715	hsa-miR-185	CLIP-seq
MIRT938716	hsa-miR-1976	CLIP-seq
MIRT938717	hsa-miR-3121-3p	CLIP-seq
MIRT938718	hsa-miR-3170	CLIP-seq
MIRT938675	hsa-miR-3665	CLIP-seq
MIRT938719	hsa-miR-448	CLIP-seq
MIRT938720	hsa-miR-455-5p	CLIP-seq
MIRT938721	hsa-miR-4643	CLIP-seq
MIRT938722	hsa-miR-466	CLIP-seq
MIRT938691	hsa-miR-4706	CLIP-seq
MIRT938723	hsa-miR-4722-3p	CLIP-seq
MIRT938696	hsa-miR-4736	CLIP-seq
MIRT938724	hsa-miR-4740-3p	CLIP-seq
MIRT938699	hsa-miR-4749-5p	CLIP-seq
MIRT938725	hsa-miR-4755-3p	CLIP-seq
MIRT938702	hsa-miR-4763-3p	CLIP-seq
MIRT938726	hsa-miR-4773	CLIP-seq
MIRT938727	hsa-miR-4789-3p	CLIP-seq
MIRT938728	hsa-miR-4797-5p	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT938712	hsa-miR-764	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT938646	hsa-miR-1207-5p	CLIP-seq
MIRT938649	hsa-miR-1269	CLIP-seq
MIRT938650	hsa-miR-1269b	CLIP-seq
MIRT1977699	hsa-miR-1281	CLIP-seq
MIRT938651	hsa-miR-1288	CLIP-seq
MIRT1977700	hsa-miR-1294	CLIP-seq
MIRT938652	hsa-miR-1321	CLIP-seq
MIRT938715	hsa-miR-185	CLIP-seq
MIRT1977701	hsa-miR-1908	CLIP-seq
MIRT1977702	hsa-miR-1915	CLIP-seq
MIRT938639	hsa-miR-296-5p	CLIP-seq
MIRT938654	hsa-miR-30a	CLIP-seq
MIRT938655	hsa-miR-30b	CLIP-seq
MIRT938656	hsa-miR-30c	CLIP-seq
MIRT938657	hsa-miR-30d	CLIP-seq
MIRT938658	hsa-miR-30e	CLIP-seq
MIRT1977703	hsa-miR-3117-5p	CLIP-seq
MIRT1977704	hsa-miR-3191	CLIP-seq
MIRT938663	hsa-miR-3192	CLIP-seq
MIRT1977705	hsa-miR-3197	CLIP-seq
MIRT1977706	hsa-miR-3620	CLIP-seq
MIRT938675	hsa-miR-3665	CLIP-seq
MIRT938679	hsa-miR-3974	CLIP-seq
MIRT1977707	hsa-miR-4292	CLIP-seq
MIRT1977708	hsa-miR-4316	CLIP-seq
MIRT1977709	hsa-miR-4446-3p	CLIP-seq
MIRT1977710	hsa-miR-4468	CLIP-seq
MIRT1977711	hsa-miR-4481	CLIP-seq
MIRT1977712	hsa-miR-4492	CLIP-seq
MIRT1977713	hsa-miR-4498	CLIP-seq
MIRT938686	hsa-miR-4515	CLIP-seq
MIRT1977714	hsa-miR-4520a-5p	CLIP-seq
MIRT1977715	hsa-miR-4520b-5p	CLIP-seq
MIRT938687	hsa-miR-4529-3p	CLIP-seq
MIRT1977716	hsa-miR-4654	CLIP-seq
MIRT1977717	hsa-miR-4685-5p	CLIP-seq
MIRT938691	hsa-miR-4706	CLIP-seq
MIRT938693	hsa-miR-4728-5p	CLIP-seq
MIRT938696	hsa-miR-4736	CLIP-seq
MIRT938697	hsa-miR-4739	CLIP-seq
MIRT938698	hsa-miR-4740-5p	CLIP-seq
MIRT1977718	hsa-miR-4745-5p	CLIP-seq
MIRT938699	hsa-miR-4749-5p	CLIP-seq
MIRT938700	hsa-miR-4756-5p	CLIP-seq
MIRT938702	hsa-miR-4763-3p	CLIP-seq
MIRT1977719	hsa-miR-4769-5p	CLIP-seq
MIRT938728	hsa-miR-4797-5p	CLIP-seq
MIRT1977720	hsa-miR-566	CLIP-seq
MIRT938709	hsa-miR-643	CLIP-seq
MIRT938710	hsa-miR-648	CLIP-seq
MIRT1977721	hsa-miR-663	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT1977722	hsa-miR-762	CLIP-seq
MIRT938712	hsa-miR-764	CLIP-seq
MIRT1977723	hsa-miR-933	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT1977724	hsa-miR-326	CLIP-seq
MIRT1977725	hsa-miR-330-5p	CLIP-seq
MIRT2213014	hsa-miR-1265	CLIP-seq
MIRT2213015	hsa-miR-3605-5p	CLIP-seq
MIRT2213016	hsa-miR-1182	CLIP-seq
MIRT2213017	hsa-miR-1251	CLIP-seq
MIRT2213018	hsa-miR-1266	CLIP-seq
MIRT938649	hsa-miR-1269	CLIP-seq
MIRT938650	hsa-miR-1269b	CLIP-seq
MIRT1977699	hsa-miR-1281	CLIP-seq
MIRT938651	hsa-miR-1288	CLIP-seq
MIRT1977701	hsa-miR-1908	CLIP-seq
MIRT1977702	hsa-miR-1915	CLIP-seq
MIRT2213019	hsa-miR-24	CLIP-seq
MIRT938654	hsa-miR-30a	CLIP-seq
MIRT938655	hsa-miR-30b	CLIP-seq
MIRT938656	hsa-miR-30c	CLIP-seq
MIRT938657	hsa-miR-30d	CLIP-seq
MIRT938658	hsa-miR-30e	CLIP-seq
MIRT1977703	hsa-miR-3117-5p	CLIP-seq
MIRT1977705	hsa-miR-3197	CLIP-seq
MIRT938679	hsa-miR-3974	CLIP-seq
MIRT2213020	hsa-miR-4284	CLIP-seq
MIRT2213021	hsa-miR-4305	CLIP-seq
MIRT1977708	hsa-miR-4316	CLIP-seq
MIRT1977709	hsa-miR-4446-3p	CLIP-seq
MIRT1977712	hsa-miR-4492	CLIP-seq
MIRT1977713	hsa-miR-4498	CLIP-seq
MIRT938686	hsa-miR-4515	CLIP-seq
MIRT2213022	hsa-miR-4518	CLIP-seq
MIRT938687	hsa-miR-4529-3p	CLIP-seq
MIRT1977717	hsa-miR-4685-5p	CLIP-seq
MIRT2213023	hsa-miR-4715-5p	CLIP-seq
MIRT938698	hsa-miR-4740-5p	CLIP-seq
MIRT1977720	hsa-miR-566	CLIP-seq
MIRT938709	hsa-miR-643	CLIP-seq
MIRT938710	hsa-miR-648	CLIP-seq
MIRT1977721	hsa-miR-663	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT1977722	hsa-miR-762	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT938649	hsa-miR-1269	CLIP-seq
MIRT938650	hsa-miR-1269b	CLIP-seq
MIRT1977699	hsa-miR-1281	CLIP-seq
MIRT938651	hsa-miR-1288	CLIP-seq
MIRT1977701	hsa-miR-1908	CLIP-seq
MIRT1977702	hsa-miR-1915	CLIP-seq
MIRT938654	hsa-miR-30a	CLIP-seq
MIRT938655	hsa-miR-30b	CLIP-seq
MIRT938656	hsa-miR-30c	CLIP-seq
MIRT938657	hsa-miR-30d	CLIP-seq
MIRT938658	hsa-miR-30e	CLIP-seq
MIRT1977703	hsa-miR-3117-5p	CLIP-seq
MIRT1977705	hsa-miR-3197	CLIP-seq
MIRT1977708	hsa-miR-4316	CLIP-seq
MIRT1977709	hsa-miR-4446-3p	CLIP-seq
MIRT1977710	hsa-miR-4468	CLIP-seq
MIRT1977712	hsa-miR-4492	CLIP-seq
MIRT1977713	hsa-miR-4498	CLIP-seq
MIRT938686	hsa-miR-4515	CLIP-seq
MIRT1977714	hsa-miR-4520a-5p	CLIP-seq
MIRT1977715	hsa-miR-4520b-5p	CLIP-seq
MIRT938687	hsa-miR-4529-3p	CLIP-seq
MIRT1977717	hsa-miR-4685-5p	CLIP-seq
MIRT938698	hsa-miR-4740-5p	CLIP-seq
MIRT1977720	hsa-miR-566	CLIP-seq
MIRT938709	hsa-miR-643	CLIP-seq
MIRT938710	hsa-miR-648	CLIP-seq
MIRT1977721	hsa-miR-663	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT1977722	hsa-miR-762	CLIP-seq
MIRT1977723	hsa-miR-933	CLIP-seq
MIRT938645	hsa-miR-938	CLIP-seq
MIRT2516882	hsa-miR-1224-5p	CLIP-seq
MIRT2516883	hsa-miR-1289	CLIP-seq
MIRT1977701	hsa-miR-1908	CLIP-seq
MIRT1977702	hsa-miR-1915	CLIP-seq
MIRT1977703	hsa-miR-3117-5p	CLIP-seq
MIRT2516884	hsa-miR-3169	CLIP-seq
MIRT1977705	hsa-miR-3197	CLIP-seq
MIRT938670	hsa-miR-329	CLIP-seq
MIRT2516885	hsa-miR-331-3p	CLIP-seq
MIRT938673	hsa-miR-362-3p	CLIP-seq
MIRT2516886	hsa-miR-3687	CLIP-seq
MIRT938678	hsa-miR-3941	CLIP-seq
MIRT2516887	hsa-miR-4308	CLIP-seq
MIRT2516888	hsa-miR-4313	CLIP-seq
MIRT1977708	hsa-miR-4316	CLIP-seq
MIRT2516889	hsa-miR-4442	CLIP-seq
MIRT1977709	hsa-miR-4446-3p	CLIP-seq
MIRT2516890	hsa-miR-4457	CLIP-seq
MIRT2516891	hsa-miR-4479	CLIP-seq
MIRT1977712	hsa-miR-4492	CLIP-seq
MIRT1977713	hsa-miR-4498	CLIP-seq
MIRT2516892	hsa-miR-4513	CLIP-seq
MIRT2516893	hsa-miR-4632	CLIP-seq
MIRT938722	hsa-miR-466	CLIP-seq
MIRT2516894	hsa-miR-4672	CLIP-seq
MIRT1977717	hsa-miR-4685-5p	CLIP-seq
MIRT2516895	hsa-miR-4707-3p	CLIP-seq
MIRT2516896	hsa-miR-4731-3p	CLIP-seq
MIRT938698	hsa-miR-4740-5p	CLIP-seq
MIRT2516897	hsa-miR-4749-3p	CLIP-seq
MIRT2516898	hsa-miR-4751	CLIP-seq
MIRT2516899	hsa-miR-4786-3p	CLIP-seq
MIRT2516900	hsa-miR-4801	CLIP-seq
MIRT938708	hsa-miR-603	CLIP-seq
MIRT2516901	hsa-miR-624	CLIP-seq
MIRT1977721	hsa-miR-663	CLIP-seq
MIRT2516902	hsa-miR-671-5p	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT1977722	hsa-miR-762	CLIP-seq
MIRT1977699	hsa-miR-1281	CLIP-seq
MIRT1977701	hsa-miR-1908	CLIP-seq
MIRT1977702	hsa-miR-1915	CLIP-seq
MIRT1977703	hsa-miR-3117-5p	CLIP-seq
MIRT1977705	hsa-miR-3197	CLIP-seq
MIRT1977708	hsa-miR-4316	CLIP-seq
MIRT1977709	hsa-miR-4446-3p	CLIP-seq
MIRT1977712	hsa-miR-4492	CLIP-seq
MIRT1977713	hsa-miR-4498	CLIP-seq
MIRT1977714	hsa-miR-4520a-5p	CLIP-seq
MIRT1977715	hsa-miR-4520b-5p	CLIP-seq
MIRT2516893	hsa-miR-4632	CLIP-seq
MIRT1977717	hsa-miR-4685-5p	CLIP-seq
MIRT2516895	hsa-miR-4707-3p	CLIP-seq
MIRT2516897	hsa-miR-4749-3p	CLIP-seq
MIRT1977720	hsa-miR-566	CLIP-seq
MIRT1977721	hsa-miR-663	CLIP-seq
MIRT938729	hsa-miR-744	CLIP-seq
MIRT1977722	hsa-miR-762	CLIP-seq

15 Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16275660, 17474147, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0023052	Process	Signaling	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099010	Process	Modification of postsynaptic structure	IEA
GO:0099572	Component	Postsynaptic specialization	IBA
GO:0099572	Component	Postsynaptic specialization	IEA

MIM	HGNC	e!Ensembl
616191	24476	ENSG00000080845

Q9Y2H0

Protein name

Disks large-associated protein 4 (DAP-4) (PSD-95/SAP90-binding protein 4) (SAP90/PSD-95-associated protein 4) (SAPAP-4)

Protein function

May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03359	GKAP	660 → 992	Guanylate-kinase-associated protein (GKAP) protein	Family

Sequence

MKGLGDSRPRHLSDSLDPPHEPLFAGTDRNPYLLSPTEAFAREARFPGQNTLPGDGLFPL
NNQLPPPSSTFPRIHYNSHFEVPEESPFPSHAQATKINRLPANLLDQFEKQLPIHRDGFS
TLQFPRGEAKARGESPGRIRHLVHSVQRLFFTKAPSLEGTAGKVGGNGSKKGGMEDGKGR
RAKSKERAKAGEPKRRSRSNISGWWSSDDNLDGEAGAFRSSGPASGLMTLGRQAERSQPR
YFMHAYNTISGHMLKTTKNNTTELTAPPPPPAPPATCPSLGVGTDTNYVKRGSWSTLTLS
HAHEVCQKTSATLDKSLLKSKSCHQGLAYHYLQVPGGGGEWSTTLLSPRETDAAAEGPIP
CRRMRSGSYIKAMGDEDSDESGGSPKPSPKTAARRQSYLRATQQSLGEQSNPRRSLDRLD
SVDMLLPSKCPSWEEDYTPVSDSLNDSSCISQIFGQASLIPQLFGHEQQVREAELSDQYE
AACESACSEAESTAAETLDLPLPSYFRSRSHSYLRAIQAGCSQEEDSVSLQSLSPPPSTG
SLSNSRTLPSSSCLVAYKKTPPPVPPRTTSKPFISVTVQSSTESAQDTYLDSQDHKSEVT
SQSGLSNSSDSLDSSTRPPSVTRGGVAPAPEAPEPPPKHAALKSEQGTLTSSESHPEAAP
KRKLSSIGIQVDCIQPVPKEEPSPATKFQSIGVQVEDDWRSSVPSHSMSSRRDTDSDTQD
ANDSSCKSSERSLPDCTPHPNSISIDAGPRQAPKIAQIKRNLSYGDNSDPALEASSLPPP
DPWLETSSSSPAEPAQPGACRRDGYWFLKLLQAETERLEGWCCQMDKETKENNLSEEVLG
KVLSAVGSAQLLMSQKFQQFRGLCEQNLNPDANPRPTAQDLAGFWDLLQLSIEDISMKFD
ELYHLKANSWQLVETPEKRKEEKKPPPPVPKKPAKSKPAVSRDKASDASDKQRQEARKRL
LAAKRAASVRQNSATESADSIEIYVPEAQTRL

Sequence length

992

Interactions

View interactions

Reactome Pathway
Neurexins and neuroligins

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (29)
BASAL CELL CARCINOMA	—	GWAS catalog	36496446	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	31605138	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	34290314	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	31605138	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	29739929, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	33667223	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30664629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30664629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36396671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	24986922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	24986922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32646340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31338326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30664629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32646340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31338326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30365066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30365066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30664629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31761328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30365066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30365066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FAM83C	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	13	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Melanoma)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)"]
TRAK2	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	13	["GWAS catalog (Basal cell carcinoma)","GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)"]
CDK5RAP1	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]
CLK1	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]
RNF19A	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]

DLGAP4 (DLG associated protein 4)

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