CCDC88C (coiled-coil and HOOK domain protein 88C)

Gene

• Entrez ID: 440193
• Gene name: Coiled-coil and HOOK domain protein 88C
• Gene symbol: CCDC88C
• Synonyms (NCBI Gene): DAPLE, HKRP2, HYC1, KIAA1509, SCA40
• Disease Acronyms (UniProt): HYC1, SCA40
• Chromosome: 14
• Chromosome location: 14q32.11-q32.12
• Summary: This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45560241	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs61736349	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs142539336	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs151228192	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs200543687	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200769097	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201931182	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs202217944	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs369384363	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant, missense variant
rs387907320	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs387907321	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587782989	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs786205489	C>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1064796464	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1567043467	TG>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017297	hsa-miR-335-5p	Microarray	18185580
MIRT023465	hsa-miR-23b-3p	Sequencing	20371350
MIRT023565	hsa-miR-1-3p	Microarray	18668037
MIRT050556	hsa-miR-20a-5p	CLASH	23622248
MIRT048817	hsa-miR-93-5p	CLASH	23622248
MIRT568148	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT568147	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT568146	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT568145	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT568144	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT568143	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT568142	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT568141	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT568140	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT568139	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT568138	hsa-miR-922	PAR-CLIP	20371350
MIRT568137	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT568136	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT445193	hsa-miR-191-5p	PAR-CLIP	22100165
MIRT139347	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT139362	hsa-miR-3659	PAR-CLIP	22100165
MIRT445192	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445191	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT445190	hsa-miR-636	PAR-CLIP	22100165
MIRT445189	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT445187	hsa-miR-4658	PAR-CLIP	22100165
MIRT445188	hsa-miR-6790-5p	PAR-CLIP	22100165
MIRT445186	hsa-miR-218-5p	PAR-CLIP	22100165
MIRT445185	hsa-miR-6818-5p	PAR-CLIP	22100165
MIRT728039	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT728038	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT728037	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT728036	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT568148	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT568147	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT568146	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT568145	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT568144	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT568143	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT568142	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT568141	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT568140	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT568139	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT568138	hsa-miR-922	PAR-CLIP	20371350
MIRT568137	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT568136	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT445193	hsa-miR-191-5p	PAR-CLIP	22100165
MIRT139347	hsa-miR-574-5p	PAR-CLIP	22100165
MIRT139362	hsa-miR-3659	PAR-CLIP	22100165
MIRT445192	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445191	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT445190	hsa-miR-636	PAR-CLIP	22100165
MIRT445189	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT445187	hsa-miR-4658	PAR-CLIP	22100165
MIRT445188	hsa-miR-6790-5p	PAR-CLIP	22100165
MIRT445186	hsa-miR-218-5p	PAR-CLIP	22100165
MIRT445185	hsa-miR-6818-5p	PAR-CLIP	22100165
MIRT870134	hsa-miR-1207-3p	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT870136	hsa-miR-1243	CLIP-seq
MIRT870137	hsa-miR-1275	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT870139	hsa-miR-142-3p	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870143	hsa-miR-191	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT870146	hsa-miR-214	CLIP-seq
MIRT870147	hsa-miR-218	CLIP-seq
MIRT870148	hsa-miR-223	CLIP-seq
MIRT870149	hsa-miR-3135b	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870152	hsa-miR-346	CLIP-seq
MIRT870153	hsa-miR-3619-5p	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870155	hsa-miR-3654	CLIP-seq
MIRT870156	hsa-miR-3670	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870159	hsa-miR-4255	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870162	hsa-miR-4271	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870164	hsa-miR-4288	CLIP-seq
MIRT870165	hsa-miR-4328	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870168	hsa-miR-4525	CLIP-seq
MIRT870169	hsa-miR-4639-3p	CLIP-seq
MIRT870170	hsa-miR-4650-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870172	hsa-miR-4665-5p	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT870174	hsa-miR-4690-5p	CLIP-seq
MIRT870175	hsa-miR-4723-5p	CLIP-seq
MIRT870176	hsa-miR-4725-3p	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT870179	hsa-miR-518a-5p	CLIP-seq
MIRT870180	hsa-miR-527	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870185	hsa-miR-616	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870187	hsa-miR-625	CLIP-seq
MIRT870188	hsa-miR-632	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT870191	hsa-miR-761	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq
MIRT870134	hsa-miR-1207-3p	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT1958345	hsa-miR-147	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT1958346	hsa-miR-23a	CLIP-seq
MIRT1958347	hsa-miR-23b	CLIP-seq
MIRT1958348	hsa-miR-23c	CLIP-seq
MIRT1958349	hsa-miR-27a	CLIP-seq
MIRT1958350	hsa-miR-27b	CLIP-seq
MIRT1958351	hsa-miR-3124-3p	CLIP-seq
MIRT870149	hsa-miR-3135b	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT1958352	hsa-miR-3177-5p	CLIP-seq
MIRT1958353	hsa-miR-3180-5p	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870156	hsa-miR-3670	CLIP-seq
MIRT1958354	hsa-miR-374c	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870159	hsa-miR-4255	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870170	hsa-miR-4650-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT1958355	hsa-miR-4717-3p	CLIP-seq
MIRT1958356	hsa-miR-4755-3p	CLIP-seq
MIRT1958357	hsa-miR-4790-3p	CLIP-seq
MIRT1958358	hsa-miR-495	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT1958359	hsa-miR-513a-5p	CLIP-seq
MIRT1958360	hsa-miR-520a-5p	CLIP-seq
MIRT1958361	hsa-miR-525-5p	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT1958362	hsa-miR-587	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT1958363	hsa-miR-655	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT870136	hsa-miR-1243	CLIP-seq
MIRT2195122	hsa-miR-1250	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT870137	hsa-miR-1275	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT2195123	hsa-miR-1292	CLIP-seq
MIRT2195124	hsa-miR-1302	CLIP-seq
MIRT2195125	hsa-miR-1343	CLIP-seq
MIRT870139	hsa-miR-142-3p	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT2195126	hsa-miR-1825	CLIP-seq
MIRT870144	hsa-miR-1910	CLIP-seq
MIRT2195127	hsa-miR-1913	CLIP-seq
MIRT2195128	hsa-miR-193a-3p	CLIP-seq
MIRT2195129	hsa-miR-193b	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT2195130	hsa-miR-1976	CLIP-seq
MIRT2195131	hsa-miR-199a-5p	CLIP-seq
MIRT2195132	hsa-miR-199b-5p	CLIP-seq
MIRT870148	hsa-miR-223	CLIP-seq
MIRT1958346	hsa-miR-23a	CLIP-seq
MIRT1958347	hsa-miR-23b	CLIP-seq
MIRT1958348	hsa-miR-23c	CLIP-seq
MIRT1958349	hsa-miR-27a	CLIP-seq
MIRT1958350	hsa-miR-27b	CLIP-seq
MIRT2195133	hsa-miR-298	CLIP-seq
MIRT2195134	hsa-miR-3074-5p	CLIP-seq
MIRT2195135	hsa-miR-3121-3p	CLIP-seq
MIRT1958351	hsa-miR-3124-3p	CLIP-seq
MIRT2195136	hsa-miR-3156-3p	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT1958352	hsa-miR-3177-5p	CLIP-seq
MIRT1958353	hsa-miR-3180-5p	CLIP-seq
MIRT2195137	hsa-miR-324-3p	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870152	hsa-miR-346	CLIP-seq
MIRT2195138	hsa-miR-3609	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870155	hsa-miR-3654	CLIP-seq
MIRT2195139	hsa-miR-3662	CLIP-seq
MIRT2195140	hsa-miR-3678-3p	CLIP-seq
MIRT1958354	hsa-miR-374c	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT2195141	hsa-miR-3973	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870162	hsa-miR-4271	CLIP-seq
MIRT2195142	hsa-miR-4279	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870164	hsa-miR-4288	CLIP-seq
MIRT2195143	hsa-miR-4298	CLIP-seq
MIRT2195144	hsa-miR-4301	CLIP-seq
MIRT2195145	hsa-miR-4313	CLIP-seq
MIRT870165	hsa-miR-4328	CLIP-seq
MIRT870166	hsa-miR-4421	CLIP-seq
MIRT2195146	hsa-miR-4464	CLIP-seq
MIRT2195147	hsa-miR-4471	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT2195148	hsa-miR-4496	CLIP-seq
MIRT2195149	hsa-miR-450b-3p	CLIP-seq
MIRT870168	hsa-miR-4525	CLIP-seq
MIRT2195150	hsa-miR-4643	CLIP-seq
MIRT2195151	hsa-miR-4655-5p	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870172	hsa-miR-4665-5p	CLIP-seq
MIRT2195152	hsa-miR-4666-5p	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT2195153	hsa-miR-4694-3p	CLIP-seq
MIRT2195154	hsa-miR-4713-3p	CLIP-seq
MIRT1958355	hsa-miR-4717-3p	CLIP-seq
MIRT2195155	hsa-miR-4722-3p	CLIP-seq
MIRT870175	hsa-miR-4723-5p	CLIP-seq
MIRT870176	hsa-miR-4725-3p	CLIP-seq
MIRT2195156	hsa-miR-4731-3p	CLIP-seq
MIRT2195157	hsa-miR-4748	CLIP-seq
MIRT2195158	hsa-miR-4757-5p	CLIP-seq
MIRT2195159	hsa-miR-4785	CLIP-seq
MIRT2195160	hsa-miR-4789-3p	CLIP-seq
MIRT1958357	hsa-miR-4790-3p	CLIP-seq
MIRT2195161	hsa-miR-4801	CLIP-seq
MIRT2195162	hsa-miR-4803	CLIP-seq
MIRT2195163	hsa-miR-483-3p	CLIP-seq
MIRT1958358	hsa-miR-495	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT1958359	hsa-miR-513a-5p	CLIP-seq
MIRT1958360	hsa-miR-520a-5p	CLIP-seq
MIRT1958361	hsa-miR-525-5p	CLIP-seq
MIRT2195164	hsa-miR-542-5p	CLIP-seq
MIRT2195165	hsa-miR-548ah	CLIP-seq
MIRT2195166	hsa-miR-548l	CLIP-seq
MIRT2195167	hsa-miR-548t	CLIP-seq
MIRT870181	hsa-miR-556-3p	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870183	hsa-miR-582-5p	CLIP-seq
MIRT1958362	hsa-miR-587	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870187	hsa-miR-625	CLIP-seq
MIRT870188	hsa-miR-632	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT2195168	hsa-miR-638	CLIP-seq
MIRT1958363	hsa-miR-655	CLIP-seq
MIRT2195169	hsa-miR-656	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT2195170	hsa-miR-769-3p	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870135	hsa-miR-1228	CLIP-seq
MIRT1958343	hsa-miR-1271	CLIP-seq
MIRT1958344	hsa-miR-128	CLIP-seq
MIRT870138	hsa-miR-1287	CLIP-seq
MIRT870140	hsa-miR-15a	CLIP-seq
MIRT870141	hsa-miR-15b	CLIP-seq
MIRT870142	hsa-miR-16	CLIP-seq
MIRT870145	hsa-miR-195	CLIP-seq
MIRT870150	hsa-miR-3166	CLIP-seq
MIRT870151	hsa-miR-329	CLIP-seq
MIRT870154	hsa-miR-362-3p	CLIP-seq
MIRT870157	hsa-miR-3941	CLIP-seq
MIRT870158	hsa-miR-424	CLIP-seq
MIRT870161	hsa-miR-4260	CLIP-seq
MIRT870163	hsa-miR-4283	CLIP-seq
MIRT870167	hsa-miR-4489	CLIP-seq
MIRT870171	hsa-miR-466	CLIP-seq
MIRT870173	hsa-miR-4672	CLIP-seq
MIRT870177	hsa-miR-497	CLIP-seq
MIRT870178	hsa-miR-500a	CLIP-seq
MIRT870182	hsa-miR-570	CLIP-seq
MIRT870184	hsa-miR-603	CLIP-seq
MIRT870186	hsa-miR-619	CLIP-seq
MIRT870189	hsa-miR-635	CLIP-seq
MIRT870190	hsa-miR-671-5p	CLIP-seq
MIRT1958364	hsa-miR-96	CLIP-seq
MIRT870160	hsa-miR-4256	CLIP-seq
MIRT870192	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001932	Process	Regulation of protein phosphorylation	ISS	14750955
GO:0001965	Function	G-protein alpha-subunit binding	IPI	26126266
GO:0003383	Process	Apical constriction	IDA	30948426
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	26126266
GO:0005109	Function	Frizzled binding	IPI	26126266
GO:0005515	Function	Protein binding	IPI	26126266
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	25062847, 26126266
GO:0005813	Component	Centrosome	IBA	21873635
GO:0007264	Process	Small GTPase mediated signal transduction	IDA	26126266
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0030054	Component	Cell junction	IMP	30948426
GO:0030165	Function	PDZ domain binding	ISS	14750955
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA	21873635
GO:0031098	Process	Stress-activated protein kinase signaling cascade	IMP	25062847
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0031648	Process	Protein destabilization	ISS	14750955
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	26126266
GO:0042802	Function	Identical protein binding	ISS	14750955
GO:0043621	Function	Protein self-association	ISS	14750955
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	26126266

Other IDs

• MIM: 611204
• HGNC: 19967
• e!Ensembl: ENSG00000015133

Protein

• UniProt ID: Q9P219
• Protein name: Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2)
• Protein function: Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of ca
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19047	HOOK_N	12 → 166	HOOK domain	Domain

• Sequence:

  MDVTVSELLELFLQSPLVTWVKTFGPFGSGSQDNLTMYMDLVDGIFLNQIMLQIDPRPTN
  QRINKHVNNDVNLRIQNLTILVRNIKTYYQEVLQQLIVMNLPNVLMIGRDPLSGKSMEEI
  KKVLLLVLGCAVQCERKEEFIERIKQLDIETQAGIVAHIQEVTHNQENVFDLQWLELPDV
  APEELEALSRSMVLHLRRLIDQRDECTELIVDLTQERDYLQAQHPPSPIKSSSADSTPSP
  TSSLSSEDKQHLAVELADTKARLRRVRQELEDKTEQLVDTRHEVDQLVLELQKVKQENIQ
  LAADARSARAYRDELDSLREKANRVERLELELTRCKEKLHDVDFYKARMEELREDNIILI
  ETKAMLEEQLTAARARGDKVHELEKENLQLKSKLHDLELDRDTDKKRIEELLEENMVLEI
  AQKQSMNESAHLGWELEQLSKNADLSDASRKSFVFELNECASSRILKLEKENQSLQSTIQ
  GLRDASLVLEESGLKCGELEKENHQLSKKIEKLQTQLEREKQSNQDLETLSEELIREKEQ
  LQSDMETLKADKARQIKDLEQEKDHLNRAMWSLRERSQVSSEARMKDVEKENKALHQTVT
  EANGKLSQLEFEKRQLHRDLEQAKEKGERAEKLERELQRLQEENGRLARKVTSLETATEK
  VEALEHESQGLQLENRTLRKSLDTLQNVSLQLEGLERDNKQLDAENLELRRLVETMRFTS
  TKLAQMERENQQLEREKEELRKNVDLLKALGKKSERLELSYQSVSAENLRLQQSLESSSH
  KTQTLESELGELEAERQALRRDLEALRLANAQLEGAEKDRKALEQEVAQLEKDKKLLEKE
  AKRLWQQVELKDAVLDDSTAKLSAVEKESRALDKELARCRDAAGKLKELEKDNRDLTKQV
  TVHARTLTTLREDLVLEKLKSQQLSSELDKLSQELEKVGLNRELLLQEDDSGSDTKYKIL
  EGRNESALKTTLAMKEEKIVLLEAQMEEKASLNRQLESELQMLKKECETLRQNQGEGQHL
  QNSFKHPAGKTAASHQGKEAWGPGHKEATMELLRVKDRAIELERNNAALQAEKQLLKEQL
  QHLETQNVTFSSQILTLQKQSAFLQEHNTTLQTQTAKLQVENSTLSSQSAALTAQYTLLQ
  NHHTAKETENESLQRQQEQLTAAYEALLQDHEHLGTLHERQSAEYEALIRQHSCLKTLHR
  NLELEHKELGERHGDMLKRKAELEEREKVLTTEREALQQEQRTNALAMGENQRLRGELDR
  VNFLHHQLKGEYEELHAHTKELKTSLNNAQLELNRWQARFDELKEQHQTMDISLTKLDNH
  CELLSRLKGNLEEENHHLLSQIQLLSQQNQMLLEQNMENKEQYHEEQKQYIDKLNALRRH
  KEKLEEKIMDQYKFYDPPPKKKNHWIGAKALVKLIKPKKEGSRERLKSTVDSPPWQLESS
  DPASPAASQPLRSQAENPDTPALGSNCAEERDAHNGSVGKGPGDLKPKRGSPHRGSLDRT
  DASTDLAMRSWPSELGSRTCSTSATTTAPSNSTPIARHPGRTKGYNSDDNLCEPSLEFEV
  PNHRQYVSRPSSLESSRNTSSNSSPLNLKGSSEQLHGRSESFSSEDLIPSRDLATLPREA
  STPGRNALGRHEYPLPRNGPLPQEGAQKRGTAPPYVGVRPCSASPSSEMVTLEEFLEESN
  RSSPTHDTPSCRDDLLSDYFRKASDPPAIGGQPGPPAKKEGAKMPTNFVAPTVKMAAPTS
  EGRPLKPGQYVKPNFRLTEAEAPPSVAPRQAQPPQSLSLGRPRQAPVPPASHAPASRSAS
  LSRAFSLASADLLRASGPEACKQESPQKLGAPEALGGRETGSHTLQSPAPPSSHSLARER
  TPLVGKAGSSCQGPGPRSRPLDTRRFSLAPPKEERLAPLHQSATAPAIATAGAGAAAAGS
  GSNSQLLHFSPAAAPAARTKPKAPPRSGEVATITPVRAGLSLSEGDGVPGQGCSEGLPAK
  SPGRSPDLAPHLGRALEDCSRGSVSKSSPASPEPGGDPQTVWYEYGCV

• Sequence length: 2028

Pathways

KEGG:

Wnt signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, Spinocerebellar ataxia type 40	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	25062847, 21031079
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	23535729
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683, 23535729, 25751625
Congenital hydrocephalus	Congenital Hydrocephalus	rs387907321, rs1575362239, rs1576408050, rs1576412227, rs1576426439, rs1588574984, rs1588622713
Hydrocephalus	Hydrocephalus, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546	21031079, 23042809
Mental retardation	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
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	22037555

Unknown
Disease term	Disease name	Evidence	References	Source
Hyperopia	Hyperopia			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	36768938
Breast Neoplasms	Stimulate	23593120
Breast Neoplasms	Associate	23593120
Cerebellar Ataxia	Associate	36768938
Colorectal Neoplasms	Stimulate	29487190
Fetal Diseases	Associate	34092257
Hereditary renal agenesis	Associate	34092257
Hernia Diaphragmatic	Associate	34092257
Hydrocephalus	Associate	29341397, 33602173, 34092257
Hydrocephalus X linked	Associate	36803301
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Melanoma	Associate	30575751
Melanoma Cutaneous Malignant	Associate	30575751
Meningomyelocele	Associate	34092257
Neoplasms	Associate	26916336
Neoplasms	Inhibit	29487190, 30575751
Neoplastic Syndromes Hereditary	Associate	34092257
Nephrotic Syndrome	Associate	36803301
Papilloma Choroid Plexus	Associate	34092257
Periventricular Nodular Heterotopia	Associate	34092257
Pulmonary Atresia	Associate	36803301
Pulmonary Disease Chronic Obstructive	Associate	33658578
Seizures	Associate	29341397
Spastic Paraplegia Hereditary	Associate	33602173
Spinocerebellar Ataxias	Associate	33602173, 36768938
Tremor	Associate	36768938