PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha)

Gene

• Entrez ID: 5518
• Gene name: Protein phosphatase 2 scaffold subunit Aalpha
• Gene symbol: PPP2R1A
• Synonyms (NCBI Gene): HJS2, MRD36, PP2A-Aalpha, PP2AA, PP2AAALPHA, PR65A
• Disease Acronyms (UniProt): HJS2
• Chromosome: 19
• Chromosome location: 19q13.41
• Summary: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric co

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205227	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205228	C>G,T	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs863225094	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519946	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519947	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1555791268	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031709	hsa-miR-16-5p	Proteomics	18668040
MIRT051517	hsa-let-7e-5p	CLASH	23622248
MIRT050961	hsa-miR-17-5p	CLASH	23622248
MIRT050575	hsa-miR-20a-5p	CLASH	23622248
MIRT050575	hsa-miR-20a-5p	CLASH	23622248
MIRT049765	hsa-miR-92a-3p	CLASH	23622248
MIRT048343	hsa-miR-106a-5p	CLASH	23622248
MIRT046765	hsa-miR-222-3p	CLASH	23622248
MIRT037954	hsa-miR-505-5p	CLASH	23622248
MIRT036561	hsa-miR-941	CLASH	23622248
MIRT639556	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639555	hsa-miR-1279	HITS-CLIP	23824327
MIRT639554	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639553	hsa-miR-4775	HITS-CLIP	23824327
MIRT639552	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT639551	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639556	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639555	hsa-miR-1279	HITS-CLIP	23824327
MIRT639554	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639553	hsa-miR-4775	HITS-CLIP	23824327
MIRT639552	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT639551	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT1257297	hsa-miR-2277-3p	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT1257325	hsa-miR-542-3p	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2075853	hsa-miR-1236	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2075857	hsa-miR-3682-5p	CLIP-seq
MIRT2075858	hsa-miR-3684	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT2075861	hsa-miR-4268	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2075863	hsa-miR-4305	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2075868	hsa-miR-4448	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075870	hsa-miR-4777-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2075872	hsa-miR-518d-5p	CLIP-seq
MIRT2075873	hsa-miR-519b-5p	CLIP-seq
MIRT2075874	hsa-miR-519c-5p	CLIP-seq
MIRT2075875	hsa-miR-520c-5p	CLIP-seq
MIRT2075876	hsa-miR-526a	CLIP-seq
MIRT2075877	hsa-miR-606	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599087	hsa-miR-1178	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2599088	hsa-miR-125a-5p	CLIP-seq
MIRT2599089	hsa-miR-125b	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT2599090	hsa-miR-15a	CLIP-seq
MIRT2599091	hsa-miR-15b	CLIP-seq
MIRT2599092	hsa-miR-16	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2599093	hsa-miR-195	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT2599094	hsa-miR-214	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2599095	hsa-miR-3613-3p	CLIP-seq
MIRT2599096	hsa-miR-361-3p	CLIP-seq
MIRT2599097	hsa-miR-3619-5p	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2599098	hsa-miR-424	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2599099	hsa-miR-4287	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2599100	hsa-miR-4319	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2599101	hsa-miR-4434	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2599102	hsa-miR-4469	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT2599103	hsa-miR-4516	CLIP-seq
MIRT2599104	hsa-miR-4520a-3p	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT2599105	hsa-miR-4531	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT2599106	hsa-miR-4685-3p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT2599107	hsa-miR-4694-3p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599108	hsa-miR-4732-3p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2599109	hsa-miR-497	CLIP-seq
MIRT2599110	hsa-miR-522	CLIP-seq
MIRT1257325	hsa-miR-542-3p	CLIP-seq
MIRT2599111	hsa-miR-548aa	CLIP-seq
MIRT2599112	hsa-miR-548ac	CLIP-seq
MIRT2599113	hsa-miR-548d-3p	CLIP-seq
MIRT2599114	hsa-miR-548z	CLIP-seq
MIRT2599115	hsa-miR-583	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT2599116	hsa-miR-642b	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT2599117	hsa-miR-670	CLIP-seq
MIRT2599118	hsa-miR-761	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT2599087	hsa-miR-1178	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2599088	hsa-miR-125a-5p	CLIP-seq
MIRT2599089	hsa-miR-125b	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT2599090	hsa-miR-15a	CLIP-seq
MIRT2599091	hsa-miR-15b	CLIP-seq
MIRT2599092	hsa-miR-16	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2599093	hsa-miR-195	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT2599094	hsa-miR-214	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2599095	hsa-miR-3613-3p	CLIP-seq
MIRT2599096	hsa-miR-361-3p	CLIP-seq
MIRT2599097	hsa-miR-3619-5p	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2599098	hsa-miR-424	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2599099	hsa-miR-4287	CLIP-seq
MIRT2599100	hsa-miR-4319	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2599101	hsa-miR-4434	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT2599102	hsa-miR-4469	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT2599103	hsa-miR-4516	CLIP-seq
MIRT2599104	hsa-miR-4520a-3p	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT2599105	hsa-miR-4531	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT2599106	hsa-miR-4685-3p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT2599107	hsa-miR-4694-3p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599108	hsa-miR-4732-3p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2599109	hsa-miR-497	CLIP-seq
MIRT2599110	hsa-miR-522	CLIP-seq
MIRT2599111	hsa-miR-548aa	CLIP-seq
MIRT2599112	hsa-miR-548ac	CLIP-seq
MIRT2599113	hsa-miR-548d-3p	CLIP-seq
MIRT2599114	hsa-miR-548z	CLIP-seq
MIRT2599115	hsa-miR-583	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT2599116	hsa-miR-642b	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT2599117	hsa-miR-670	CLIP-seq
MIRT2599118	hsa-miR-761	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0000159	Component	Protein phosphatase type 2A complex	IBA	21873635
GO:0000159	Component	Protein phosphatase type 2A complex	IDA	17055435, 17174897
GO:0000159	Component	Protein phosphatase type 2A complex	TAS	11007961
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS
GO:0000188	Process	Inactivation of MAPK activity	NAS	11007961
GO:0000775	Component	Chromosome, centromeric region	IDA	16580887
GO:0004722	Function	Protein serine/threonine phosphatase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	8617797, 9847399, 9857076, 11504734, 11591705, 15761952, 16044149, 16580887, 16764867, 17055435, 17245430, 17274953, 17374643, 17529992, 17540176, 17632056, 17974561, 18394995, 18715871, 18782753, 19156129, 19293187, 19915589, 20711181, 21075311, 21460856, 23555304, 25150978, 252417
GO:0005634	Component	Nucleus	IDA	30611118
GO:0005634	Component	Nucleus	NAS	11007961
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	NAS	11007961
GO:0005829	Component	Cytosol	TAS	11007961
GO:0006275	Process	Regulation of DNA replication	NAS	11007961
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	11007961
GO:0006470	Process	Protein dephosphorylation	TAS	11007961
GO:0006672	Process	Ceramide metabolic process	NAS	11007961
GO:0006915	Process	Apoptotic process	TAS	11007961
GO:0007059	Process	Chromosome segregation	IDA	16580887
GO:0007084	Process	Mitotic nuclear envelope reassembly	TAS
GO:0008287	Component	Protein serine/threonine phosphatase complex	IBA	21873635
GO:0008380	Process	RNA splicing	NAS	11007961
GO:0010033	Process	Response to organic substance	NAS	11007961
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0015630	Component	Microtubule cytoskeleton	NAS	11007961
GO:0016020	Component	Membrane	NAS	11007961
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019888	Function	Protein phosphatase regulator activity	IBA	21873635
GO:0019888	Function	Protein phosphatase regulator activity	TAS	11007961
GO:0019932	Process	Second-messenger-mediated signaling	NAS	11007961
GO:0030111	Process	Regulation of Wnt signaling pathway	NAS	11007961
GO:0030155	Process	Regulation of cell adhesion	NAS	11007961
GO:0030308	Process	Negative regulation of cell growth	NAS	11007961
GO:0030425	Component	Dendrite	IEA
GO:0040008	Process	Regulation of growth	NAS	11360189
GO:0042532	Process	Negative regulation of tyrosine phosphorylation of STAT protein	NAS	11007961
GO:0043666	Process	Regulation of phosphoprotein phosphatase activity	IEA
GO:0045595	Process	Regulation of cell differentiation	NAS	11360189
GO:0046982	Function	Protein heterodimerization activity	IPI	9847399
GO:0065003	Process	Protein-containing complex assembly	TAS	9989501
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS
GO:1990405	Function	Protein antigen binding	IPI	9847399

Other IDs

• MIM: 605983
• HGNC: 9302
• e!Ensembl: ENSG00000105568

Protein

• UniProt ID: P30153
• Protein name: Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (PP2Aa) (Medium tumor antigen-associated 61 kDa protein) (PP2A subunit A isoform PR65-alpha) (PP2A subunit A isoform R1-alpha)
• Protein function: The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:15525651, PubMed:16580887, PubMed:33243860, PubMed:33633399, PubMed:34004
• PDB: 1B3U, 2IE3, 2IE4, 2NPP, 2NYL, 2NYM, 2PKG, 3C5W, 3DW8, 3K7V, 3K7W, 4I5L, 4I5N, 4LAC, 5W0W, 6IUR, 6NTS, 7CUN, 7K36, 7PKS, 7SOY, 7YCX, 8RBX, 8RBZ, 8RC4, 8SO0, 8TTB, 8TWE, 8TWI, 8U1X, 8U89, 8UWB, 8YJB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02985	HEAT	166 → 196	HEAT repeat	Repeat
  PF02985	HEAT	205 → 235	HEAT repeat	Repeat
  PF02985	HEAT	283 → 313	HEAT repeat	Repeat

• Sequence:

  MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIY
  DEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVRDKAVESLRAISHEHS
  PSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPM
  VRRAAASKLGEFAKVLELDNVKSEIIPMFSNLASDEQDSVRLLAVEACVNIAQLLPQEDL
  EALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRA
  AASHKVKEFCENLSADCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDN
  TIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVR
  LAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHA
  TIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTVLRMAGDPVANVRFNV
  AKSLQKIGPILDNSTLQSEVKPILEKLTQDQDVDVKYFAQEALTVLSLA

• Sequence length: 589

Pathways

KEGG:

mRNA surveillance pathway
Sphingolipid signaling pathway
Cell cycle
Oocyte meiosis
PI3K-Akt signaling pathway
AMPK signaling pathway
Adrenergic signaling in cardiomyocytes
TGF-beta signaling pathway
Hippo signaling pathway
Tight junction
T cell receptor signaling pathway
Dopaminergic synapse
Long-term depression
Chagas disease
Hepatitis C
Human papillomavirus infection

Reactome:

Inhibition of replication initiation of damaged DNA by RB1/E2F1
Spry regulation of FGF signaling
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
DARPP-32 events
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
ERK/MAPK targets
ERKs are inactivated
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Initiation of Nuclear Envelope (NE) Reformation
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
CTLA4 inhibitory signaling
Platelet sensitization by LDL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
RAF activation
Negative regulation of MAPK pathway
Regulation of TP53 Degradation
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Mitotic Prometaphase
Cyclin D associated events in G1
Cyclin A/B1/B2 associated events during G2/M transition
AURKA Activation by TPX2
EML4 and NUDC in mitotic spindle formation
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075	26619011
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	26619011
Developmental delay	Global developmental delay, Gross motor development delay, Profound 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
Gastric cancer	Gastric Adenocarcinoma, Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	26619011, 21364753
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	26619011
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36	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	25533962, 26168268
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Ovarian carcinoma	Ovarian clear cell carcinoma	rs62625308, rs137886232, rs397507192, rs80357609, rs397508926, rs80357223, rs80357678, rs587779243, rs587782861, rs747539984, rs876658381

Unknown
Disease term	Disease name	Evidence	References	Source
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	34716204
Ataxia Telangiectasia	Associate	34933911
Breast Diseases	Associate	19890961
Breast Neoplasms	Associate	19890961
Carcinogenesis	Associate	27469332, 31142515
Carcinoma Endometrioid	Associate	21435433
Carcinoma Hepatocellular	Associate	23555712, 27023146
Carcinoma Renal Cell	Associate	28004769, 28718916
Carcinoma Squamous Cell	Associate	25072932
Carcinosarcoma	Associate	22653804, 28292439, 28940304, 32114514
Colorectal Neoplasms	Associate	27023146, 34476575
Cystic Fibrosis	Associate	22892532
Developmental Disabilities	Associate	37761890, 37762002
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	22653804
Endometrial Hyperplasia	Associate	27272709
Endometrial Neoplasms	Associate	22653804, 22923510, 27272709, 28485815, 31142515, 34831139, 35128859, 36454788, 37890416, 38536067
Epilepsy	Associate	37761890, 37762002
Feeding and Eating Disorders	Associate	37761890
Gastrointestinal Stromal Tumors	Associate	27469332
Hypersensitivity Delayed	Associate	37761890
Intellectual Disability	Associate	34716204, 37762002
Leukemia	Associate	27611305
Lung Neoplasms	Associate	24204789
Megalencephaly	Associate	37761890
Meningioma	Associate	36203966
Microcephaly	Associate	37761890, 37762002
Muscle Hypotonia	Associate	37761890
Neoplasm Metastasis	Associate	27023146, 31142515
Neoplasms	Inhibit	20826764, 23493267, 32071079
Neoplasms	Associate	24425774, 24671188, 26392535, 27272709, 27469332, 27791010, 28489996, 30485824, 30508944, 31142515, 31541192, 34933911, 38369189
Neoplasms Cystic Mucinous and Serous	Associate	21435433, 22653804, 22923510
Neovascularization Pathologic	Associate	38087190
Noonan like syndrome	Associate	34716204
Optic Nerve Hypoplasia	Associate	37762002
Ovarian Neoplasms	Associate	20826764, 21435433, 27272709, 27791010, 28888422, 32650224, 36311816
Polycystic Ovary Syndrome	Associate	28004769
Pontocerebellar Hypoplasia	Associate	37762002
Porphyria Cutanea Tarda	Associate	34476575
Prostatic Neoplasms	Associate	23493267, 23598299