ALPK1 (alpha kinase 1)

Gene

• Entrez ID: 80216
• Gene name: Alpha kinase 1
• Gene symbol: ALPK1
• Synonyms: 8430410J10Rik, LAK, ROSAH
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, D

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1052954321	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT778969	hsa-miR-1304	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT778971	hsa-miR-1827	CLIP-seq
MIRT778972	hsa-miR-219-5p	CLIP-seq
MIRT778973	hsa-miR-2682	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT778975	hsa-miR-3127-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT778977	hsa-miR-3650	CLIP-seq
MIRT778978	hsa-miR-3661	CLIP-seq
MIRT778979	hsa-miR-3665	CLIP-seq
MIRT778980	hsa-miR-3944-5p	CLIP-seq
MIRT778981	hsa-miR-4324	CLIP-seq
MIRT778982	hsa-miR-4328	CLIP-seq
MIRT778983	hsa-miR-4445	CLIP-seq
MIRT778984	hsa-miR-4446-5p	CLIP-seq
MIRT778985	hsa-miR-4464	CLIP-seq
MIRT778986	hsa-miR-449c	CLIP-seq
MIRT778987	hsa-miR-4533	CLIP-seq
MIRT778988	hsa-miR-4666-5p	CLIP-seq
MIRT778989	hsa-miR-4747-5p	CLIP-seq
MIRT778990	hsa-miR-4748	CLIP-seq
MIRT778991	hsa-miR-4782-3p	CLIP-seq
MIRT778992	hsa-miR-492	CLIP-seq
MIRT778993	hsa-miR-508-3p	CLIP-seq
MIRT778994	hsa-miR-544b	CLIP-seq
MIRT778995	hsa-miR-592	CLIP-seq
MIRT778996	hsa-miR-597	CLIP-seq
MIRT778997	hsa-miR-599	CLIP-seq
MIRT778998	hsa-miR-631	CLIP-seq
MIRT778999	hsa-miR-657	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT779001	hsa-miR-1229	CLIP-seq
MIRT779002	hsa-miR-135a	CLIP-seq
MIRT779003	hsa-miR-135b	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT779004	hsa-miR-190	CLIP-seq
MIRT779005	hsa-miR-190b	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT779007	hsa-miR-3119	CLIP-seq
MIRT779008	hsa-miR-3140-3p	CLIP-seq
MIRT779009	hsa-miR-3156-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT779011	hsa-miR-335	CLIP-seq
MIRT779012	hsa-miR-342-3p	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779014	hsa-miR-3689a-5p	CLIP-seq
MIRT779015	hsa-miR-3689b	CLIP-seq
MIRT779016	hsa-miR-3689e	CLIP-seq
MIRT779017	hsa-miR-3689f	CLIP-seq
MIRT779018	hsa-miR-4255	CLIP-seq
MIRT779019	hsa-miR-4289	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT779021	hsa-miR-4424	CLIP-seq
MIRT779022	hsa-miR-4452	CLIP-seq
MIRT779023	hsa-miR-4457	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT779025	hsa-miR-4502	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT779028	hsa-miR-513b	CLIP-seq
MIRT779029	hsa-miR-520f	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT779031	hsa-miR-584	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT1929927	hsa-miR-103b	CLIP-seq
MIRT1929928	hsa-miR-1237	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT1929929	hsa-miR-376a	CLIP-seq
MIRT1929930	hsa-miR-376b	CLIP-seq
MIRT1929931	hsa-miR-4274	CLIP-seq
MIRT1929932	hsa-miR-4297	CLIP-seq
MIRT1929933	hsa-miR-4302	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT1929934	hsa-miR-4519	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT779001	hsa-miR-1229	CLIP-seq
MIRT1929928	hsa-miR-1237	CLIP-seq
MIRT2170703	hsa-miR-1256	CLIP-seq
MIRT779002	hsa-miR-135a	CLIP-seq
MIRT779003	hsa-miR-135b	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT779004	hsa-miR-190	CLIP-seq
MIRT779005	hsa-miR-190b	CLIP-seq
MIRT2170704	hsa-miR-1976	CLIP-seq
MIRT2170705	hsa-miR-216a	CLIP-seq
MIRT778972	hsa-miR-219-5p	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT779007	hsa-miR-3119	CLIP-seq
MIRT779009	hsa-miR-3156-5p	CLIP-seq
MIRT2170706	hsa-miR-3157-5p	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT2170707	hsa-miR-331-3p	CLIP-seq
MIRT779012	hsa-miR-342-3p	CLIP-seq
MIRT2170708	hsa-miR-365	CLIP-seq
MIRT2170709	hsa-miR-3657	CLIP-seq
MIRT2170710	hsa-miR-3679-3p	CLIP-seq
MIRT779014	hsa-miR-3689a-5p	CLIP-seq
MIRT779015	hsa-miR-3689b	CLIP-seq
MIRT779016	hsa-miR-3689e	CLIP-seq
MIRT779017	hsa-miR-3689f	CLIP-seq
MIRT2170711	hsa-miR-370	CLIP-seq
MIRT2170712	hsa-miR-4286	CLIP-seq
MIRT1929932	hsa-miR-4297	CLIP-seq
MIRT778981	hsa-miR-4324	CLIP-seq
MIRT779021	hsa-miR-4424	CLIP-seq
MIRT778983	hsa-miR-4445	CLIP-seq
MIRT779022	hsa-miR-4452	CLIP-seq
MIRT779023	hsa-miR-4457	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT779025	hsa-miR-4502	CLIP-seq
MIRT2170713	hsa-miR-4641	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT2170714	hsa-miR-4659a-5p	CLIP-seq
MIRT2170715	hsa-miR-4659b-5p	CLIP-seq
MIRT2170716	hsa-miR-4669	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT2170717	hsa-miR-4678	CLIP-seq
MIRT2170718	hsa-miR-4695-3p	CLIP-seq
MIRT2170719	hsa-miR-4716-5p	CLIP-seq
MIRT2170720	hsa-miR-4726-3p	CLIP-seq
MIRT2170721	hsa-miR-4727-5p	CLIP-seq
MIRT2170722	hsa-miR-4762-5p	CLIP-seq
MIRT2170723	hsa-miR-4768-5p	CLIP-seq
MIRT2170724	hsa-miR-4769-3p	CLIP-seq
MIRT778991	hsa-miR-4782-3p	CLIP-seq
MIRT778993	hsa-miR-508-3p	CLIP-seq
MIRT779028	hsa-miR-513b	CLIP-seq
MIRT2170725	hsa-miR-518a-5p	CLIP-seq
MIRT2170726	hsa-miR-527	CLIP-seq
MIRT778994	hsa-miR-544b	CLIP-seq
MIRT779031	hsa-miR-584	CLIP-seq
MIRT778995	hsa-miR-592	CLIP-seq
MIRT778997	hsa-miR-599	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473399	hsa-miR-106a	CLIP-seq
MIRT2473400	hsa-miR-106b	CLIP-seq
MIRT2473401	hsa-miR-1184	CLIP-seq
MIRT2473402	hsa-miR-1205	CLIP-seq
MIRT2473403	hsa-miR-1286	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT2473404	hsa-miR-17	CLIP-seq
MIRT2473405	hsa-miR-20a	CLIP-seq
MIRT2473406	hsa-miR-20b	CLIP-seq
MIRT2473407	hsa-miR-218	CLIP-seq
MIRT2473408	hsa-miR-2467-3p	CLIP-seq
MIRT2473409	hsa-miR-2467-5p	CLIP-seq
MIRT2473410	hsa-miR-3153	CLIP-seq
MIRT2473411	hsa-miR-3158-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT2473412	hsa-miR-3194-3p	CLIP-seq
MIRT2473413	hsa-miR-3609	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT2473414	hsa-miR-4722-5p	CLIP-seq
MIRT2473415	hsa-miR-4796-3p	CLIP-seq
MIRT2170725	hsa-miR-518a-5p	CLIP-seq
MIRT2473416	hsa-miR-519d	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT2170726	hsa-miR-527	CLIP-seq
MIRT2473417	hsa-miR-548ah	CLIP-seq
MIRT2473418	hsa-miR-581	CLIP-seq
MIRT2473419	hsa-miR-583	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473420	hsa-miR-760	CLIP-seq
MIRT2473421	hsa-miR-93	CLIP-seq
MIRT2473399	hsa-miR-106a	CLIP-seq
MIRT2473400	hsa-miR-106b	CLIP-seq
MIRT2473401	hsa-miR-1184	CLIP-seq
MIRT2473402	hsa-miR-1205	CLIP-seq
MIRT2473403	hsa-miR-1286	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT2473404	hsa-miR-17	CLIP-seq
MIRT2473405	hsa-miR-20a	CLIP-seq
MIRT2473406	hsa-miR-20b	CLIP-seq
MIRT2473407	hsa-miR-218	CLIP-seq
MIRT2473408	hsa-miR-2467-3p	CLIP-seq
MIRT2473409	hsa-miR-2467-5p	CLIP-seq
MIRT2473410	hsa-miR-3153	CLIP-seq
MIRT2473411	hsa-miR-3158-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT2674911	hsa-miR-3173-5p	CLIP-seq
MIRT2473412	hsa-miR-3194-3p	CLIP-seq
MIRT2473413	hsa-miR-3609	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT2674912	hsa-miR-4323	CLIP-seq
MIRT2473414	hsa-miR-4722-5p	CLIP-seq
MIRT2473415	hsa-miR-4796-3p	CLIP-seq
MIRT2473416	hsa-miR-519d	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT2473417	hsa-miR-548ah	CLIP-seq
MIRT2473418	hsa-miR-581	CLIP-seq
MIRT2473419	hsa-miR-583	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473420	hsa-miR-760	CLIP-seq
MIRT2473421	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	28222186, 28877472, 30111836
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	30111836
GO:0005515	Function	Protein binding	IPI	30111836
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IDA	30111836
GO:0006468	Process	Protein phosphorylation	IEA
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	28222186, 28877472, 30111836
GO:0045087	Process	Innate immune response	IDA	28222186, 28877472, 30111836
GO:0048029	Function	Monosaccharide binding	IPI	30111836
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 607347
• HGNC: 20917
• e!Ensembl: ENSG00000073331

Protein

• UniProt ID: Q96QP1
• Protein name: Alpha-protein kinase 1 (EC 2.7.11.1) (Chromosome 4 kinase) (Lymphocyte alpha-protein kinase)
• Protein function: Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:282221
• PDB: 5Z2C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02816	Alpha_kinase	1042 → 1229	Alpha-kinase family	Family

• Sequence:

  MNNQKVVAVLLQECKQVLDQLLLEAPDVSEEDKSEDQRCRALLPSELRTLIQEAKEMKWP
  FVPEKWQYKQAVGPEDKTNLKDVIGAGLQQLLASLRASILARDCAAAAAIVFLVDRFLYG
  LDVSGKLLQVAKGLHKLQPATPIAPQVVIRQARISVNSGKLLKAEYILSSLISNNGATGT
  WLYRNESDKVLVQSVCIQIRGQILQKLGMWYEAAELIWASIVGYLALPQPDKKGLSTSLG
  ILADIFVSMSKNDYEKFKNNPQINLSLLKEFDHHLLSAAEACKLAAAFSAYTPLFVLTAV
  NIRGTCLLSYSSSNDCPPELKNLHLCEAKEAFEIGLLTKRDDEPVTGKQELHSFVKAAFG
  LTTVHRRLHGETGTVHAASQLCKEAMGKLYNFSTSSRSQDREALSQEVMSVIAQVKEHLQ
  VQSFSNVDDRSYVPESFECRLDKLILHGQGDFQKILDTYSQHHTSVCEVFESDCGNNKNE
  QKDAKTGVCITALKTEIKNIDTVSTTQEKPHCQRDTGISSSLMGKNVQRELRRGGRRNWT
  HSDAFRVSLDQDVETETEPSDYSNGEGAVFNKSLSGSQTSSAWSNLSGFSSSASWEEVNY
  HVDDRSARKEPGKEHLVDTQCSTALSEELENDREGRAMHSLHSQLHDLSLQEPNNDNLEP
  SQNQPQQQMPLTPFSPHNTPGIFLAPGAGLLEGAPEGIQEVRNMGPRNTSAHSRPSYRSA
  SWSSDSGRPKNMGTHPSVQKEEAFEIIVEFPETNCDVKDRQGKEQGEEISERGAGPTFKA
  SPSWVDPEGETAESTEDAPLDFHRVLHNSLGNISMLPCSSFTPNWPVQNPDSRKSGGPVA
  EQGIDPDASTVDEEGQLLDSMDVPCTNGHGSHRLCILRQPPGQRAETPNSSVSGNILFPV
  LSEDCTTTEEGNQPGNMLNCSQNSSSSSVWWLKSPAFSSGSSEGDSPWSYLNSSGSSWVS
  LPGKMRKEILEARTLQPDDFEKLLAGVRHDWLFQRLENTGVFKPSQLHRAHSALLLKYSK
  KSELWTAQETIVYLGDYLTVKKKGRQRNAFWVHHLHQEEILGRYVGKDYKEQKGLWHHFT
  DVERQMTAQHYVTEFNKRLYEQNIPTQIFYIPSTILLILEDKTIKGCISVEPYILGEFVK
  LSNNTKVVKTEYKATEYGLAYGHFSYEFSNHRDVVVDLQGWVTGNGKGLIYLTDPQIHSV
  DQKVFTTNFGKRGIFYFFNNQHVECNEICHRLSLTRPSMEKPCT

• Sequence length: 1244

Pathways

Reactome:

Alpha-protein kinase 1 signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	27542954
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	22484627
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, 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rs2033241849, rs2033937635, rs748471942, rs1345994179, rs2037229663, rs762633090, rs774490795, rs769102771, rs1882854195, rs1882945917, rs1883031542, rs1739469293, rs768178406, rs747257567, rs761167763, rs1163040913, rs2038196341, rs140257538, rs760813820, rs751589863, rs766173950, rs779740894, rs769845921, rs2034398158, rs2034427266, rs200047855, rs2074443699, rs1566947860, rs1489149705, rs955766374, rs2054237722, rs2065896039, rs766675673, rs561618945, rs762111572, rs2033706353, rs2034681207, rs2034747055, rs762817061, rs2035847573, rs2046158549, rs1451575280, rs756885471, rs1210263161, rs1960899756, rs1468272829, rs1157108621, rs1193604660, rs121434239, rs1911391944, rs773201535, rs1975949139, rs769818541, rs104894671, rs1968162133, rs1968165008, rs1968165080, rs1968169004, rs1968170098, rs2073701307, rs2073708846, rs2073709089, rs2073817463, rs2073817965, rs2073854068, rs2073855020, rs2073873693, rs2073875313, rs2073876392, rs2073926924, rs2073964314, rs1342475527, rs2073970078, rs2073970450, rs2074043162, rs2064852005, rs759131391, rs2067513100, rs775124094, rs890128759, rs2088652401, rs1300228825, rs2089115544, rs752395624, rs756223600, rs1925733148, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs2067114709, rs2067117239, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs1569235999, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169164, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067175855, rs2067176160, rs2067176379, rs1373833359, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs2067196140, rs2067201139, rs2067217398, rs2067217662, rs2067217874, rs2067218363, rs2067267431, rs2067277129, rs2067406342, rs2067449854, rs2067451355, rs62642057, rs2067700774, rs2067877357, rs2067878321, rs2067878443, rs2067976665, rs2067985696, rs2064376489, rs2064378728, rs1924521211, rs1924895234, rs1924896735, rs1924897230, rs1924901288, rs1924904407, rs1925035229, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs1244003380, rs1926202704, rs1926208067, rs1926208868, rs1929999634, rs1930006988, rs1930414140, rs1930421028, rs1930424797, rs1930435879, rs1930445401, rs1934694621, rs762837543, rs1927017073, rs1649583816, rs1292874452, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs1235430504, rs1371160062, rs1661818720, rs2031604509, rs1558244152, rs2034951427, rs2037617658, rs912980910, rs2037658254, rs756111113, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1677289241, rs1687854945, rs1005130980, rs1334444660, rs1560664459, rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863	30967659
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	30891314

Unknown
Disease name	Disease term	dbSNP ID	References
Anhidrosis	ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS		30967659
Diabetic nephropathy	Diabetic Nephropathy		27542954
Glomerulosclerosis	Nodular glomerulosclerosis		27542954
Gout	Gout		27542954
Nephrosclerosis	Nephrosclerosis		27542954
Optic nerve oedema	Optic nerve oedema		30967659
Ovarian adenocarcinoma	Ovarian Mucinous Adenocarcinoma