WDR73 (WD repeat domain 73)

Gene

• Entrez ID: 84942
• Gene name: WD repeat domain 73
• Gene symbol: WDR73
• Synonyms (NCBI Gene): GAMOS, GAMOS1, HSPC264
• Disease Acronyms (UniProt): GAMOS1
• Chromosome: 15
• Chromosome location: 15q25.2
• Summary: The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spind

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201294090	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs727502863	A>C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs727502864	->G	Pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs747109506	G>-,GG,GGG	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, frameshift variant, coding sequence variant
rs754099015	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs755655527	C>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs767086146	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797044992	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797044993	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797044994	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797044995	C>G,T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs863223396	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs866551482	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs869320712	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1282630153	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1567021756	A>C,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1596048227	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1596050243	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1596050297	->GCCCAGGGCCCTGG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1596050386	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1596050605	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1596057578	C>G	Pathogenic	Splice acceptor variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027597	hsa-miR-98-5p	Microarray	19088304
MIRT690717	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT690716	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT690715	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT690714	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT690713	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT690712	hsa-miR-5690	HITS-CLIP	23313552
MIRT690711	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT690710	hsa-miR-20b-3p	HITS-CLIP	23313552
MIRT690709	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT690708	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT690707	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT690706	hsa-miR-4505	HITS-CLIP	23313552
MIRT690705	hsa-miR-5787	HITS-CLIP	23313552
MIRT690704	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT690703	hsa-miR-486-3p	HITS-CLIP	23313552
MIRT617920	hsa-miR-7977	HITS-CLIP	23313552
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT680755	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT680786	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT680785	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT680784	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT680783	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT680782	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT680781	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT680780	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT680779	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT680778	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT680777	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT680776	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT680775	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT680774	hsa-miR-302e	HITS-CLIP	23706177
MIRT680773	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT680772	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT680771	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT680770	hsa-miR-520b	HITS-CLIP	23706177
MIRT680769	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT680768	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT680767	hsa-miR-520e	HITS-CLIP	23706177
MIRT680766	hsa-miR-4438	HITS-CLIP	23706177
MIRT680765	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT680764	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT680763	hsa-miR-146a-3p	HITS-CLIP	23706177
MIRT680762	hsa-miR-4766-5p	HITS-CLIP	23706177
MIRT680761	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT680760	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT680759	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT680758	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT680757	hsa-miR-5095	HITS-CLIP	23706177
MIRT680756	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT680755	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680754	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT643564	hsa-miR-4432	HITS-CLIP	23824327
MIRT643563	hsa-miR-451b	HITS-CLIP	23824327
MIRT643562	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT643561	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT643560	hsa-miR-1283	HITS-CLIP	23824327
MIRT643559	hsa-miR-4696	HITS-CLIP	23824327
MIRT643558	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT643557	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617924	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617921	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT690717	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT690716	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT690715	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT690714	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT690713	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT690712	hsa-miR-5690	HITS-CLIP	23313552
MIRT690711	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT690710	hsa-miR-20b-3p	HITS-CLIP	23313552
MIRT690709	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT690708	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT690707	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT690706	hsa-miR-4505	HITS-CLIP	23313552
MIRT690705	hsa-miR-5787	HITS-CLIP	23313552
MIRT690704	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT690703	hsa-miR-486-3p	HITS-CLIP	23313552
MIRT617920	hsa-miR-7977	HITS-CLIP	23313552
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT680755	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT680786	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT680785	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT680784	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT680783	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT680782	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT680781	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT680780	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT680779	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT680778	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT680777	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT680776	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT680775	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT680774	hsa-miR-302e	HITS-CLIP	23706177
MIRT680773	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT680772	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT680771	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT680770	hsa-miR-520b	HITS-CLIP	23706177
MIRT680769	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT680768	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT680767	hsa-miR-520e	HITS-CLIP	23706177
MIRT680766	hsa-miR-4438	HITS-CLIP	23706177
MIRT680765	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT680764	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT680763	hsa-miR-146a-3p	HITS-CLIP	23706177
MIRT680762	hsa-miR-4766-5p	HITS-CLIP	23706177
MIRT680761	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT680760	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT680759	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT680758	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT680757	hsa-miR-5095	HITS-CLIP	23706177
MIRT680756	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT680755	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680754	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT643564	hsa-miR-4432	HITS-CLIP	23824327
MIRT643563	hsa-miR-451b	HITS-CLIP	23824327
MIRT643562	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT643561	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT643560	hsa-miR-1283	HITS-CLIP	23824327
MIRT643559	hsa-miR-4696	HITS-CLIP	23824327
MIRT643558	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT643557	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT617924	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT617923	hsa-miR-4267	HITS-CLIP	23824327
MIRT617922	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT617921	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT617920	hsa-miR-7977	HITS-CLIP	23824327
MIRT617919	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT617918	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT1491376	hsa-let-7a	CLIP-seq
MIRT1491377	hsa-let-7b	CLIP-seq
MIRT1491378	hsa-let-7c	CLIP-seq
MIRT1491379	hsa-let-7d	CLIP-seq
MIRT1491380	hsa-let-7e	CLIP-seq
MIRT1491381	hsa-let-7f	CLIP-seq
MIRT1491382	hsa-let-7g	CLIP-seq
MIRT1491383	hsa-let-7i	CLIP-seq
MIRT1491384	hsa-miR-106a	CLIP-seq
MIRT1491385	hsa-miR-106b	CLIP-seq
MIRT1491386	hsa-miR-17	CLIP-seq
MIRT1491387	hsa-miR-196a	CLIP-seq
MIRT1491388	hsa-miR-196b	CLIP-seq
MIRT1491389	hsa-miR-20a	CLIP-seq
MIRT1491390	hsa-miR-20b	CLIP-seq
MIRT1491391	hsa-miR-2116	CLIP-seq
MIRT1491392	hsa-miR-2467-5p	CLIP-seq
MIRT1491393	hsa-miR-296-5p	CLIP-seq
MIRT1491394	hsa-miR-302a	CLIP-seq
MIRT1491395	hsa-miR-302b	CLIP-seq
MIRT1491396	hsa-miR-302c	CLIP-seq
MIRT1491397	hsa-miR-302d	CLIP-seq
MIRT1491398	hsa-miR-3127-3p	CLIP-seq
MIRT1491399	hsa-miR-3168	CLIP-seq
MIRT1491400	hsa-miR-3188	CLIP-seq
MIRT1491401	hsa-miR-328	CLIP-seq
MIRT1491402	hsa-miR-34c-3p	CLIP-seq
MIRT1491403	hsa-miR-3611	CLIP-seq
MIRT1491404	hsa-miR-3688-3p	CLIP-seq
MIRT1491405	hsa-miR-372	CLIP-seq
MIRT1491406	hsa-miR-373	CLIP-seq
MIRT1491407	hsa-miR-3975	CLIP-seq
MIRT1491408	hsa-miR-4287	CLIP-seq
MIRT1491409	hsa-miR-4458	CLIP-seq
MIRT1491410	hsa-miR-4469	CLIP-seq
MIRT1491411	hsa-miR-4496	CLIP-seq
MIRT1491412	hsa-miR-4500	CLIP-seq
MIRT1491413	hsa-miR-4649-3p	CLIP-seq
MIRT1491414	hsa-miR-4659a-3p	CLIP-seq
MIRT1491415	hsa-miR-4659b-3p	CLIP-seq
MIRT1491416	hsa-miR-4685-3p	CLIP-seq
MIRT1491417	hsa-miR-4713-5p	CLIP-seq
MIRT1491418	hsa-miR-4738-3p	CLIP-seq
MIRT1491419	hsa-miR-4749-3p	CLIP-seq
MIRT1491420	hsa-miR-4777-5p	CLIP-seq
MIRT1491421	hsa-miR-518d-5p	CLIP-seq
MIRT1491422	hsa-miR-519b-5p	CLIP-seq
MIRT1491423	hsa-miR-519c-5p	CLIP-seq
MIRT1491424	hsa-miR-519d	CLIP-seq
MIRT1491425	hsa-miR-520c-5p	CLIP-seq
MIRT1491426	hsa-miR-526a	CLIP-seq
MIRT1491427	hsa-miR-550b	CLIP-seq
MIRT1491428	hsa-miR-648	CLIP-seq
MIRT1491429	hsa-miR-889	CLIP-seq
MIRT1491430	hsa-miR-93	CLIP-seq
MIRT1491431	hsa-miR-98	CLIP-seq
MIRT1555584	hsa-miR-1290	CLIP-seq
MIRT1555585	hsa-miR-302f	CLIP-seq
MIRT1555586	hsa-miR-3158-3p	CLIP-seq
MIRT1491401	hsa-miR-328	CLIP-seq
MIRT1555587	hsa-miR-4446-3p	CLIP-seq
MIRT1555588	hsa-miR-4492	CLIP-seq
MIRT1555589	hsa-miR-4498	CLIP-seq
MIRT1491419	hsa-miR-4749-3p	CLIP-seq
MIRT1555590	hsa-miR-762	CLIP-seq
MIRT1555584	hsa-miR-1290	CLIP-seq
MIRT2148143	hsa-miR-194	CLIP-seq
MIRT1555585	hsa-miR-302f	CLIP-seq
MIRT1555586	hsa-miR-3158-3p	CLIP-seq
MIRT2148144	hsa-miR-3199	CLIP-seq
MIRT2148145	hsa-miR-371b-5p	CLIP-seq
MIRT1555587	hsa-miR-4446-3p	CLIP-seq
MIRT1555588	hsa-miR-4492	CLIP-seq
MIRT1555589	hsa-miR-4498	CLIP-seq
MIRT2148146	hsa-miR-4515	CLIP-seq
MIRT2148147	hsa-miR-627	CLIP-seq
MIRT1555590	hsa-miR-762	CLIP-seq
MIRT1491376	hsa-let-7a	CLIP-seq
MIRT1491377	hsa-let-7b	CLIP-seq
MIRT1491378	hsa-let-7c	CLIP-seq
MIRT1491379	hsa-let-7d	CLIP-seq
MIRT1491380	hsa-let-7e	CLIP-seq
MIRT1491381	hsa-let-7f	CLIP-seq
MIRT1491382	hsa-let-7g	CLIP-seq
MIRT1491383	hsa-let-7i	CLIP-seq
MIRT1491387	hsa-miR-196a	CLIP-seq
MIRT1491388	hsa-miR-196b	CLIP-seq
MIRT1491391	hsa-miR-2116	CLIP-seq
MIRT1491392	hsa-miR-2467-5p	CLIP-seq
MIRT1491399	hsa-miR-3168	CLIP-seq
MIRT1491400	hsa-miR-3188	CLIP-seq
MIRT1491402	hsa-miR-34c-3p	CLIP-seq
MIRT1491403	hsa-miR-3611	CLIP-seq
MIRT1491407	hsa-miR-3975	CLIP-seq
MIRT1491409	hsa-miR-4458	CLIP-seq
MIRT1491411	hsa-miR-4496	CLIP-seq
MIRT1491412	hsa-miR-4500	CLIP-seq
MIRT1491413	hsa-miR-4649-3p	CLIP-seq
MIRT1491418	hsa-miR-4738-3p	CLIP-seq
MIRT2368639	hsa-miR-499a-5p	CLIP-seq
MIRT1491427	hsa-miR-550b	CLIP-seq
MIRT1491431	hsa-miR-98	CLIP-seq
MIRT1555584	hsa-miR-1290	CLIP-seq
MIRT1491401	hsa-miR-328	CLIP-seq
MIRT1555584	hsa-miR-1290	CLIP-seq
MIRT2662242	hsa-miR-2052	CLIP-seq
MIRT1555585	hsa-miR-302f	CLIP-seq
MIRT1555586	hsa-miR-3158-3p	CLIP-seq
MIRT2662243	hsa-miR-335	CLIP-seq
MIRT1555587	hsa-miR-4446-3p	CLIP-seq
MIRT2662244	hsa-miR-4468	CLIP-seq
MIRT1555588	hsa-miR-4492	CLIP-seq
MIRT1555589	hsa-miR-4498	CLIP-seq
MIRT2662245	hsa-miR-4786-5p	CLIP-seq
MIRT1555590	hsa-miR-762	CLIP-seq
MIRT2662246	hsa-miR-769-5p	CLIP-seq
MIRT2662242	hsa-miR-2052	CLIP-seq
MIRT2662243	hsa-miR-335	CLIP-seq
MIRT2662244	hsa-miR-4468	CLIP-seq
MIRT2662245	hsa-miR-4786-5p	CLIP-seq
MIRT2662246	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IBA	21873635
GO:0000922	Component	Spindle pole	IDA	25466283
GO:0003674	Function	Molecular_function	ND
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	25466283
GO:0006997	Process	Nucleus organization	IMP	25466283
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0031122	Process	Cytoplasmic microtubule organization	IMP	25466283
GO:0032154	Component	Cleavage furrow	IDA	25466283
GO:0043066	Process	Negative regulation of apoptotic process	IMP	25466283

Other IDs

• MIM: 616144
• HGNC: 25928
• e!Ensembl: ENSG00000177082

Protein

• UniProt ID: Q6P4I2
• Protein name: Integrator complex assembly factor WDR73 (WD repeat-containing protein 73)
• Protein function: Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489). Associates with INTS9 and INTS11 in the cytoplasm, stabilizing the INTS9-INTS11 heterodimer and blocking th
• PDB: 8R22
• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney and brain. In the kidney, expressed in glomeruli, most probably in podocytes, and in tubules (at protein level). In the brain, expressed in the cerebellum, with high levels in Purkinje cells and their projecting axo
• Sequence:

  MDPGDDWLVESLRLYQDFYAFDLSGATRVLEWIDDKGVFVAGYESLKKNEILHLKLPLRL
  SVKENKGLFPERDFKVRHGGFSDRSIFDLKHVPHTRLLVTSGLPGCYLQVWQVAEDSDVI
  KAVSTIAVHEKEESLWPRVAVFSTLAPGVLHGARLRSLQVVDLESRKTTYTSDVSDSEEL
  SSLQVLDADTFAFCCASGRLGLVDTRQKWAPLENRSPGPGSGGERWCAEVGSWGQGPGPS
  IASLGSDGRLCLLDPRDLCHPVSSVQCPVSVPSPDPELLRVTWAPGLKNCLAISGFDGTV
  QVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWHPCRPRTLLSA
  TNDASLHVWDWVDLCAPR

• Sequence length: 378

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
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
Galloway-mowat syndrome	Galloway Mowat syndrome, GALLOWAY-MOWAT SYNDROME 1, Galloway-Mowat syndrome	rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209, rs1557211410, rs1431526147, rs1432218739, rs773814837, rs1233885358, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811, rs374322839, rs773173317, rs140583554, rs1292041526, rs1569314907, rs779449710, rs1433513056, rs745342141, rs866551482, rs1282630153, rs1596050297, rs774069989	25466283, 18019379, 26070982
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
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
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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Renal insufficiency	Renal Insufficiency	rs1596536873
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	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	26123727

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Galloway-Mowat Syndrome	Galloway-Mowat syndrome			GenCC
CAMOS Syndrome	CAMOS syndrome			GenCC
Sarcoidosis	Sarcoidosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	27001912
Basal Ganglia Diseases	Associate	26123727
Brain Stem Neoplasms	Associate	27001912
Cerebellar Diseases	Associate	26123727, 27001912
Depression Postpartum	Associate	25466283
Diabetes Mellitus Type 2	Associate	37033211
Diabetic Nephropathies	Associate	37033211
Epilepsy	Associate	27001912
Galloway Mowat syndrome	Associate	25466283, 26070982, 26123727, 27001912, 28720660, 33686175, 36755238
Growth Disorders	Associate	26123727
Hypertensive Retinopathy	Associate	26123727
Intellectual Disability	Associate	25466283, 26123727
Kidney Diseases	Associate	26123727, 33686175
Microcephaly	Associate	25466283, 28720660, 36755238
Nephrosis	Associate	28720660
Nephrotic Syndrome	Associate	25466283, 27001912
Nervous System Malformations	Associate	33686175
Neurodegenerative Diseases	Associate	26123727, 33686175
Spinocerebellar ataxia autosomal recessive 5	Associate	26123727
Syndrome	Associate	26070982