ALPK3 (alpha kinase 3)

Gene

• Entrez ID: 57538
• Gene name: Alpha kinase 3
• Gene symbol: ALPK3
• Synonyms (NCBI Gene): CMH27, MAK, MIDORI
• Chromosome: 15
• Chromosome location: 15q25.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200889953	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs370072439	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs527847958	->CCAGG	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs541612157	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs745688425	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs749465164	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs762110595	G>A	Pathogenic	Splice acceptor variant
rs769139957	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs773730492	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777315336	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057523687	G>C	Likely-pathogenic	Intron variant
rs1064796122	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1450218521	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555434555	G>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1555435405	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555435531	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555436118	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567089714	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1567093598	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1596149339	CTCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596155145	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596155634	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030251	hsa-miR-26b-5p	Microarray	19088304
MIRT491041	hsa-miR-8485	PAR-CLIP	23592263
MIRT491040	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT491039	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT491038	hsa-miR-7515	PAR-CLIP	23592263
MIRT491037	hsa-miR-3179	PAR-CLIP	23592263
MIRT491036	hsa-miR-6077	PAR-CLIP	23592263
MIRT491035	hsa-miR-4271	PAR-CLIP	23592263
MIRT491033	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT491034	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT491032	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT491031	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT450506	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT450505	hsa-miR-577	PAR-CLIP	22100165
MIRT450504	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT450503	hsa-miR-509-3p	PAR-CLIP	22100165
MIRT450502	hsa-miR-1273e	PAR-CLIP	22100165
MIRT450501	hsa-miR-3942-3p	PAR-CLIP	22100165
MIRT443733	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT443732	hsa-miR-96-3p	PAR-CLIP	22100165
MIRT443731	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443730	hsa-miR-4480	PAR-CLIP	22100165
MIRT491041	hsa-miR-8485	PAR-CLIP	23592263
MIRT491040	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT491039	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT491038	hsa-miR-7515	PAR-CLIP	23592263
MIRT491037	hsa-miR-3179	PAR-CLIP	23592263
MIRT491036	hsa-miR-6077	PAR-CLIP	23592263
MIRT491035	hsa-miR-4271	PAR-CLIP	23592263
MIRT491033	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT491034	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT491032	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT491031	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT450506	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT450505	hsa-miR-577	PAR-CLIP	22100165
MIRT450504	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT450503	hsa-miR-509-3p	PAR-CLIP	22100165
MIRT450502	hsa-miR-1273e	PAR-CLIP	22100165
MIRT450501	hsa-miR-3942-3p	PAR-CLIP	22100165
MIRT443733	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT443732	hsa-miR-96-3p	PAR-CLIP	22100165
MIRT443731	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443730	hsa-miR-4480	PAR-CLIP	22100165
MIRT779042	hsa-miR-105	CLIP-seq
MIRT779043	hsa-miR-10a	CLIP-seq
MIRT779044	hsa-miR-10b	CLIP-seq
MIRT779045	hsa-miR-1184	CLIP-seq
MIRT779046	hsa-miR-1207-3p	CLIP-seq
MIRT779047	hsa-miR-1226	CLIP-seq
MIRT779048	hsa-miR-1237	CLIP-seq
MIRT779049	hsa-miR-1253	CLIP-seq
MIRT779050	hsa-miR-125a-5p	CLIP-seq
MIRT779051	hsa-miR-125b	CLIP-seq
MIRT779052	hsa-miR-1273g	CLIP-seq
MIRT779053	hsa-miR-1301	CLIP-seq
MIRT779054	hsa-miR-1343	CLIP-seq
MIRT779055	hsa-miR-149	CLIP-seq
MIRT779056	hsa-miR-190	CLIP-seq
MIRT779057	hsa-miR-190b	CLIP-seq
MIRT779058	hsa-miR-1972	CLIP-seq
MIRT779059	hsa-miR-2110	CLIP-seq
MIRT779060	hsa-miR-2355-3p	CLIP-seq
MIRT779061	hsa-miR-24	CLIP-seq
MIRT779062	hsa-miR-2467-3p	CLIP-seq
MIRT779063	hsa-miR-296-5p	CLIP-seq
MIRT779064	hsa-miR-3064-5p	CLIP-seq
MIRT779065	hsa-miR-3125	CLIP-seq
MIRT779066	hsa-miR-3150a-3p	CLIP-seq
MIRT779067	hsa-miR-3176	CLIP-seq
MIRT779068	hsa-miR-3194-3p	CLIP-seq
MIRT779069	hsa-miR-3202	CLIP-seq
MIRT779070	hsa-miR-3616-5p	CLIP-seq
MIRT779071	hsa-miR-3647-5p	CLIP-seq
MIRT779072	hsa-miR-365	CLIP-seq
MIRT779073	hsa-miR-3690	CLIP-seq
MIRT779074	hsa-miR-3909	CLIP-seq
MIRT779075	hsa-miR-3916	CLIP-seq
MIRT779076	hsa-miR-3922-3p	CLIP-seq
MIRT779077	hsa-miR-3926	CLIP-seq
MIRT779078	hsa-miR-4252	CLIP-seq
MIRT779079	hsa-miR-4254	CLIP-seq
MIRT779080	hsa-miR-4259	CLIP-seq
MIRT779081	hsa-miR-4260	CLIP-seq
MIRT779082	hsa-miR-4273	CLIP-seq
MIRT779083	hsa-miR-4276	CLIP-seq
MIRT779084	hsa-miR-4284	CLIP-seq
MIRT779085	hsa-miR-4319	CLIP-seq
MIRT779086	hsa-miR-4324	CLIP-seq
MIRT779087	hsa-miR-4330	CLIP-seq
MIRT779088	hsa-miR-4428	CLIP-seq
MIRT779089	hsa-miR-4434	CLIP-seq
MIRT779090	hsa-miR-4450	CLIP-seq
MIRT779091	hsa-miR-4516	CLIP-seq
MIRT779092	hsa-miR-4517	CLIP-seq
MIRT779093	hsa-miR-4525	CLIP-seq
MIRT779094	hsa-miR-4530	CLIP-seq
MIRT779095	hsa-miR-4533	CLIP-seq
MIRT779096	hsa-miR-4633-5p	CLIP-seq
MIRT779097	hsa-miR-4646-3p	CLIP-seq
MIRT779098	hsa-miR-4653-3p	CLIP-seq
MIRT779099	hsa-miR-4660	CLIP-seq
MIRT779100	hsa-miR-4668-5p	CLIP-seq
MIRT779101	hsa-miR-4677-5p	CLIP-seq
MIRT779102	hsa-miR-4690-5p	CLIP-seq
MIRT779103	hsa-miR-4693-3p	CLIP-seq
MIRT779104	hsa-miR-4698	CLIP-seq
MIRT779105	hsa-miR-4733-3p	CLIP-seq
MIRT779106	hsa-miR-4747-5p	CLIP-seq
MIRT779107	hsa-miR-4764-5p	CLIP-seq
MIRT779108	hsa-miR-4782-5p	CLIP-seq
MIRT779109	hsa-miR-4794	CLIP-seq
MIRT779110	hsa-miR-4795-5p	CLIP-seq
MIRT779111	hsa-miR-486-3p	CLIP-seq
MIRT779112	hsa-miR-491-3p	CLIP-seq
MIRT779113	hsa-miR-5047	CLIP-seq
MIRT779114	hsa-miR-511	CLIP-seq
MIRT779115	hsa-miR-539	CLIP-seq
MIRT779116	hsa-miR-548s	CLIP-seq
MIRT779117	hsa-miR-562	CLIP-seq
MIRT779118	hsa-miR-573	CLIP-seq
MIRT779119	hsa-miR-624	CLIP-seq
MIRT779120	hsa-miR-634	CLIP-seq
MIRT779121	hsa-miR-659	CLIP-seq
MIRT779122	hsa-miR-922	CLIP-seq
MIRT779123	hsa-miR-938	CLIP-seq
MIRT1545322	hsa-miR-31	CLIP-seq
MIRT1929935	hsa-let-7a	CLIP-seq
MIRT1929936	hsa-let-7b	CLIP-seq
MIRT1929937	hsa-let-7c	CLIP-seq
MIRT1929938	hsa-let-7d	CLIP-seq
MIRT1929939	hsa-let-7e	CLIP-seq
MIRT1929940	hsa-let-7f	CLIP-seq
MIRT1929941	hsa-let-7g	CLIP-seq
MIRT1929942	hsa-let-7i	CLIP-seq
MIRT1929943	hsa-miR-1193	CLIP-seq
MIRT779047	hsa-miR-1226	CLIP-seq
MIRT1929944	hsa-miR-1228	CLIP-seq
MIRT1929945	hsa-miR-1229	CLIP-seq
MIRT779050	hsa-miR-125a-5p	CLIP-seq
MIRT779051	hsa-miR-125b	CLIP-seq
MIRT779052	hsa-miR-1273g	CLIP-seq
MIRT1929946	hsa-miR-1276	CLIP-seq
MIRT1929947	hsa-miR-1285	CLIP-seq
MIRT1929948	hsa-miR-1286	CLIP-seq
MIRT1929949	hsa-miR-1289	CLIP-seq
MIRT1929950	hsa-miR-129-3p	CLIP-seq
MIRT779054	hsa-miR-1343	CLIP-seq
MIRT1929951	hsa-miR-137	CLIP-seq
MIRT1929952	hsa-miR-1827	CLIP-seq
MIRT779058	hsa-miR-1972	CLIP-seq
MIRT1929953	hsa-miR-2392	CLIP-seq
MIRT1929954	hsa-miR-3123	CLIP-seq
MIRT1929955	hsa-miR-3127-5p	CLIP-seq
MIRT1929956	hsa-miR-3144-5p	CLIP-seq
MIRT1929957	hsa-miR-3155	CLIP-seq
MIRT1929958	hsa-miR-3155b	CLIP-seq
MIRT1929959	hsa-miR-3187-5p	CLIP-seq
MIRT1929960	hsa-miR-3189-5p	CLIP-seq
MIRT1929961	hsa-miR-3192	CLIP-seq
MIRT1929962	hsa-miR-3198	CLIP-seq
MIRT779069	hsa-miR-3202	CLIP-seq
MIRT1929963	hsa-miR-342-3p	CLIP-seq
MIRT1929964	hsa-miR-3612	CLIP-seq
MIRT1929965	hsa-miR-3622a-3p	CLIP-seq
MIRT1929966	hsa-miR-3622b-3p	CLIP-seq
MIRT1929967	hsa-miR-362-5p	CLIP-seq
MIRT1929968	hsa-miR-3663-3p	CLIP-seq
MIRT1929969	hsa-miR-3688-5p	CLIP-seq
MIRT1929970	hsa-miR-378g	CLIP-seq
MIRT1929971	hsa-miR-3914	CLIP-seq
MIRT1929972	hsa-miR-3919	CLIP-seq
MIRT1929973	hsa-miR-3925-5p	CLIP-seq
MIRT1929974	hsa-miR-3927	CLIP-seq
MIRT1929975	hsa-miR-4267	CLIP-seq
MIRT1929976	hsa-miR-4290	CLIP-seq
MIRT1929977	hsa-miR-4294	CLIP-seq
MIRT1929978	hsa-miR-4309	CLIP-seq
MIRT779085	hsa-miR-4319	CLIP-seq
MIRT1929979	hsa-miR-4323	CLIP-seq
MIRT779087	hsa-miR-4330	CLIP-seq
MIRT779089	hsa-miR-4434	CLIP-seq
MIRT1929980	hsa-miR-4437	CLIP-seq
MIRT1929981	hsa-miR-4451	CLIP-seq
MIRT1929982	hsa-miR-4458	CLIP-seq
MIRT1929983	hsa-miR-4486	CLIP-seq
MIRT1929984	hsa-miR-4500	CLIP-seq
MIRT779091	hsa-miR-4516	CLIP-seq
MIRT1929985	hsa-miR-4519	CLIP-seq
MIRT779094	hsa-miR-4530	CLIP-seq
MIRT1929986	hsa-miR-4674	CLIP-seq
MIRT1929987	hsa-miR-4687-5p	CLIP-seq
MIRT779104	hsa-miR-4698	CLIP-seq
MIRT1929988	hsa-miR-4722-5p	CLIP-seq
MIRT1929989	hsa-miR-4740-3p	CLIP-seq
MIRT1929990	hsa-miR-4756-3p	CLIP-seq
MIRT1929991	hsa-miR-483-3p	CLIP-seq
MIRT1929992	hsa-miR-484	CLIP-seq
MIRT1929993	hsa-miR-500b	CLIP-seq
MIRT1929994	hsa-miR-501-5p	CLIP-seq
MIRT1929995	hsa-miR-556-5p	CLIP-seq
MIRT1929996	hsa-miR-563	CLIP-seq
MIRT1929997	hsa-miR-579	CLIP-seq
MIRT1929998	hsa-miR-612	CLIP-seq
MIRT1929999	hsa-miR-650	CLIP-seq
MIRT779121	hsa-miR-659	CLIP-seq
MIRT1930000	hsa-miR-873	CLIP-seq
MIRT1930001	hsa-miR-98	CLIP-seq
MIRT2170730	hsa-miR-1202	CLIP-seq
MIRT2170731	hsa-miR-1224-3p	CLIP-seq
MIRT779047	hsa-miR-1226	CLIP-seq
MIRT1929944	hsa-miR-1228	CLIP-seq
MIRT1929945	hsa-miR-1229	CLIP-seq
MIRT2170732	hsa-miR-1304	CLIP-seq
MIRT779058	hsa-miR-1972	CLIP-seq
MIRT1929961	hsa-miR-3192	CLIP-seq
MIRT2170733	hsa-miR-3194-5p	CLIP-seq
MIRT779069	hsa-miR-3202	CLIP-seq
MIRT1929963	hsa-miR-342-3p	CLIP-seq
MIRT1929965	hsa-miR-3622a-3p	CLIP-seq
MIRT1929966	hsa-miR-3622b-3p	CLIP-seq
MIRT2170734	hsa-miR-377	CLIP-seq
MIRT1929970	hsa-miR-378g	CLIP-seq
MIRT2170735	hsa-miR-3972	CLIP-seq
MIRT1929975	hsa-miR-4267	CLIP-seq
MIRT2170736	hsa-miR-4419a	CLIP-seq
MIRT2170737	hsa-miR-4436b-3p	CLIP-seq
MIRT2170738	hsa-miR-4505	CLIP-seq
MIRT2170739	hsa-miR-4510	CLIP-seq
MIRT779094	hsa-miR-4530	CLIP-seq
MIRT779095	hsa-miR-4533	CLIP-seq
MIRT779099	hsa-miR-4660	CLIP-seq
MIRT779102	hsa-miR-4690-5p	CLIP-seq
MIRT779105	hsa-miR-4733-3p	CLIP-seq
MIRT779106	hsa-miR-4747-5p	CLIP-seq
MIRT2170740	hsa-miR-583	CLIP-seq
MIRT2170741	hsa-miR-603	CLIP-seq
MIRT779119	hsa-miR-624	CLIP-seq
MIRT2384097	hsa-miR-1299	CLIP-seq
MIRT1929955	hsa-miR-3127-5p	CLIP-seq
MIRT2384098	hsa-miR-3918	CLIP-seq
MIRT2384099	hsa-miR-4645-5p	CLIP-seq
MIRT2384100	hsa-miR-4673	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055013	Process	Cardiac muscle cell development	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 617608
• HGNC: 17574
• e!Ensembl: ENSG00000136383

Protein

• UniProt ID: Q96L96
• Protein name: Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha-protein kinase)
• Protein function: Involved in cardiomyocyte differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	279 → 371	Immunoglobulin I-set domain	Domain
  PF02816	Alpha_kinase	1620 → 1819	Alpha-kinase family	Family

• Sequence:

  MEVAWLVYVLGQQPLARQGEGQSRLVPGRGLVLWLPGLPRSSPSWPAVDLAPLAPARPRG
  PLICHTGHEQAGREPGPGSSTKGPVLHDQDTRCAFLPRPPGPLQTRRYCRHQGRQGSGLG
  AGPGAGTWAPAPPGVSKPRCPGRARPGEGQQQVTTARPPAINRGARQPRAGAAAAGRGPG
  AGAWRTGEAAASAGPAVGEGGAMGSRRAPSRGWGAGGRSGAGGDGEDDGPVWIPSPASRS
  YLLSVRPETSLSSNRLSHPSSGRSTFCSIIAQLTEETQPLFETTLKSRSVSEDSDVRFTC
  IVTGYPEPEVTWYKDDTELDRYCGLPKYEITHQGNRHTLQLYRCREEDAAIYQASAQNSK
  GIVSCSGVLEVGTMTEYKIHQRWFAKLKRKAAAKLREIEQSWKHEKAVPGEVDTLRKLSP
  DRFQRKRRLSGAQAPGPSVPTREPEGGTLAAWQEGETETAQHSGLGLINSFASGEVTTNG
  EAAPENGEDGEHGLLTYICDAMELGPQRALKEESGAKKKKKDEESKQGLRKPELEKAAQS
  RRSSENCIPSSDEPDSCGTQGPVGVEQVQTQPRGRAARGPGSSGTDSTRKPASAVGTPDK
  AQKAPGPGPGQEVYFSLKDMYLENTQAVRPLGEEGPQTLSVRAPGESPKGKAPLRARSEG
  VPGAPGQPTHSLTPQPTRPFNRKRFAPPKPKGEATTDSKPISSLSQAPECGAQSLGKAPP
  QASVQVPTPPARRRHGTRDSTLQGQAGHRTPGEVLECQTTTAPTMSASSSSDVASIGVST
  SGSQGIIEPMDMETQEDGRTSANQRTGSKKNVQADGKIQVDGRTRGDGTQTAQRTRADRK
  TQVDAGTQESKRPQSDRSAQKGMMTQGRAETQLETTQAGEKIQEDRKAQADKGTQEDRRM
  QGEKGMQGEKGTQSEGSAPTAMEGQSEQEVATSLGPPSRTPKLPPTAGPRAPLNIECFVQ
  TPEGSCFPKKPGCLPRSEEAVVTASRNHEQTVLGPLSGNLMLPAQPPHEGSVEQVGGERC
  RGPQSSGPVEAKQEDSPFQCPKEERPGGVPCMDQGGCPLAGLSQEVPTMPSLPGTGLTAS
  PKAGPCSTPTSQHGSTATFLPSEDQVLMSSAPTLHLGLGTPTQSHPPETMATSSEGACAQ
  VPDVEGRTPGPRSCDPGLIDSLKNYLLLLLKLSSTETSGAGGESQVGAATGGLVPSATLT
  PTVEVAGLSPRTSRRILERVENNHLVQSAQTLLLSPCTSRRLTGLLDREVQAGRQALAAA
  RGSWGPGPSSLTVPAIVVDEEDPGLASEGASEGEGEVSPEGPGLLGASQESSMAGRLGEA
  GGQAAPGQGPSAESIAQEPSQEEKFPGEALTGLPAATPEELALGARRKRFLPKVRAAGDG
  EATTPEERESPTVSPRGPRKSLVPGSPGTPGRERRSPTQGRKASMLEVPRAEEELAAGDL
  GPSPKAGGLDTEVALDEGKQETLAKPRKAKDLLKAPQVIRKIRVEQFPDASGSLKLWCQF
  FNILSDSVLTWAKDQRPVGEVGRSAGDEGPAALAIVQASPVDCGVYRCTIHNEHGSASTD
  FCLSPEVLSGFISREEGEVGEEIEMTPMVFAKGLADSGCWGDKLFGRLVSEELRGGGYGC
  GLRKASQAKVIYGLEPIFESGRTCIIKVSSLLVFGPSSETSLVGRNYDVTIQGCKIQNMS
  REYCKIFAAEARAAPGFGEVPEIIPLYLIYRPANNIPYATLEEDLGKPLESYCSREWGCA
  EAPTASGSSEAMQKCQTFQHWLYQWTNGSFLVTDLAGVDWKMTDVQIATKLRGYQGLKES
  CFPALLDRFASSHQCNAYCELLGLTPLKGPEAAHPQAKAKGSKSPSAGRKGSQLSPQPQK
  KGLPSPQGTRKSAPSSKATPQASEPVTTQLLGQPPTQEEGSKAQGMR

• Sequence length: 1907

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ALPK3-related disorder	Pathogenic; Likely pathogenic	rs775335205, rs2505727517, rs769139957, rs749465164	RCV003335962 RCV004528554 RCV004740264 RCV004530627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs1344615174, rs2141567430, rs2505705877, rs2505707106, rs370072439, rs769139957, rs1555434555, rs1450218521	RCV003331180 RCV002469405 RCV003330469 RCV003330470 RCV005407106 RCV000490678 RCV005898751 RCV005240625	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy, familial hypertrophic 27	Pathogenic; Likely pathogenic	rs1225841418, rs568699617, rs1418106287, rs1344615174, rs2141557313, rs2141567902, rs770674513, rs751041696, rs1403144024, rs1567094168, rs2141568082, rs2141570299, rs2141569401, rs1567095321, rs2141569005, rs1218016810, rs2505723818, rs2505689253, rs1186665805, rs2505705712, rs2505705997, rs2505720575, rs755476608, rs765142581, rs2505729878, rs1963449829, rs2505722871, rs1225518851, rs748725556, rs2505704743, rs2505722433, rs1963501754, rs2505727260, rs757327094, rs2505689293, rs773730492, rs749465164, rs745688425, rs200889953, rs762110595, rs1555436118, rs1555435531, rs777315336, rs1431206462, rs1596155145, rs1450218521, rs1567093598, rs2141573290	RCV001329172 RCV005429055 RCV004796641 RCV004594353 RCV001729988 RCV001783436 RCV001839469 RCV003152778 RCV005868527 RCV005415631 RCV005360208 RCV005415633 RCV002052117 RCV002052130 RCV002273002 RCV002283881 RCV005869800 RCV004785622 RCV005869842 RCV002463980 RCV002471668 RCV005208183 RCV006249832 RCV005869915 RCV003127195 RCV003147057 RCV003447650 RCV003314267 RCV003314388 RCV003315210 RCV003447898 RCV005254882 RCV003990372 RCV003990855 RCV004594872 RCV006249639 RCV000663351 RCV004760643 RCV005004267 RCV000663352 RCV000663353 RCV000663354 RCV001809802 RCV002283511 RCV002272361 RCV004669149 RCV000850525 RCV001283841	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs568699617, rs1344615174, rs2141567430, rs770674513, rs2141556264, rs769139957, rs751041696, rs749836697, rs2141557520, rs1567094168, rs2141570234, rs1295297874, rs2141556463, rs2141556375, rs2141574028, rs2141568790, rs765766340, rs1963653131, rs1250475254, rs2141570935, rs2505722576, rs2505720978, rs2505722754, rs2505721718, rs2505723820, rs2505723818, rs1380478280, rs2505724060, rs2505729802, rs2505689457, rs2505689253, rs2505705919, rs1963639299, rs2505705477, rs750622312, rs1186665805, rs1173256548, rs1220418124, rs768342367, rs2505719933, rs2505720215, rs1284611172, rs2505722871, rs2505728562, rs1364348923, rs2505723959, rs2505704683, rs2505721674, rs2505689036, rs370072439, rs1963641493, rs749465164, rs1555434555, rs200889953, rs762110595, rs1555436118, rs1567089714, rs777315336, rs1431206462, rs1596155145, rs1450218521, rs1963877824	RCV004037614 RCV004995940 RCV003161093 RCV005350650 RCV002331356 RCV002422961 RCV003167169 RCV006357131 RCV005654905 RCV004996147 RCV002331376 RCV004043988 RCV002386814 RCV002386818 RCV002334970 RCV002361198 RCV005654903 RCV002423140 RCV003385752 RCV005590240 RCV002329889 RCV002337563 RCV002332070 RCV002321103 RCV002333917 RCV002333918 RCV002338485 RCV002330357 RCV002344342 RCV002391562 RCV002366962 RCV002403832 RCV002387416 RCV002389387 RCV002380643 RCV002444225 RCV002444343 RCV005655043 RCV003167578 RCV004067705 RCV003186874 RCV003168448 RCV003306269 RCV004636771 RCV005353221 RCV004634315 RCV004524552 RCV004524594 RCV004524610 RCV002393036 RCV005405053 RCV002420255 RCV002350407 RCV002384308 RCV002358671 RCV004993922 RCV002343412 RCV002397531 RCV003166076 RCV002332576 RCV003307471 RCV002336730 RCV004994315	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs749836697, rs770334508, rs2505706216, rs745688425, rs200889953, rs1450218521, rs1963877824	RCV005401877 RCV005412317 RCV003994611 RCV000607554 RCV000613410 RCV000825510 RCV001195300	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs762110595	RCV005901429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs568699617, rs749465164	RCV001374969 RCV001374970	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs775335205	RCV005931161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs770674513	RCV006269486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	38403804	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21441111, 26846950, 30046096, 31074094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	28223422, 28630369, 30046096, 32480058, 37944352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	28630369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28296976, 32480058, 37944352	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33076350, 33607470, 34263907, 35583889, 37944352, 38002985, 39971408	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26846950		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27	Cardiomyopathy	CLINVAR_DG	26846950		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27	Cardiomyopathy	BEFREE	31074094		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	22157620		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21441111		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25074776, 25385675, 29781741		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28630369	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	21148103		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31554410, 34263907	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11418590, 21441111, 26846950, 27106955		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	21441111, 26846950, 27106955		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia-Ischemia, Brain	Ischemic Encephalopathy	BEFREE	31580838		★☆☆☆☆ Found in Text Mining only
Infiltrating duct carcinoma of female breast	Infiltrating Duct Carcinoma Of Female Breast	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	22110072	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31433998		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12084720, 16951154		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21986944	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	29103961	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22110072		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22110072, 25446321	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	21148103		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21825139, 21835304, 22110072, 25446321, 26558903, 26894652, 29276052		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21825139, 22110072, 25255364, 25385675, 25446321, 32000842	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 62	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	21148103		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 62	Retinitis Pigmentosa	UNIPROT_DG	21825139, 21835304		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 62	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 62	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	Rhyns syndrome	Pubtator	25385675	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	34263907	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25385675	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	25446321		★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	10932183, 24859506		★☆☆☆☆ Found in Text Mining only