NEK1 (NIMA related kinase 1)

Gene

• Entrez ID: 4750
• Gene name: NIMA related kinase 1
• Gene symbol: NEK1
• Synonyms (NCBI Gene): ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6
• Disease Acronyms (UniProt): ALS24, OFD2, SRTD6
• Chromosome: 4
• Chromosome location: 4q33
• Summary: The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10034957	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs34324114	A>C	Likely-pathogenic, benign, likely-benign	Downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs56077602	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs189186475	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs199947197	G>C	Pathogenic, risk-factor, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs200161705	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign, benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs371575563	G>A,C	Risk-factor	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs377607698	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs387906890	G>A,C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs431905508	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs483352906	T>C	Pathogenic	Splice acceptor variant, intron variant
rs483352907	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs749428135	T>A	Risk-factor	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs752878896	TGTT>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs756830252	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs758677637	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs772747361	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs773496891	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs775849720	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs776098853	A>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs786205645	TA>-	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs794727032	C>A	Pathogenic	Intron variant, splice acceptor variant
rs794727285	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs985064686	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs1049502301	C>T	Other, pathogenic	Splice donor variant, genic upstream transcript variant
rs1131690775	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1157065841	T>C,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1301705612	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1362848762	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1554020563	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1554053289	CC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554075284	GTTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1554075506	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026517	hsa-miR-192-5p	Microarray	19074876
MIRT030894	hsa-miR-21-5p	Microarray	18591254
MIRT042284	hsa-miR-484	CLASH	23622248
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT1180087	hsa-miR-1260	CLIP-seq
MIRT1180088	hsa-miR-1260b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT1180090	hsa-miR-188-3p	CLIP-seq
MIRT1180091	hsa-miR-3156-3p	CLIP-seq
MIRT1180092	hsa-miR-4301	CLIP-seq
MIRT1180093	hsa-miR-4718	CLIP-seq
MIRT1180094	hsa-miR-4742-3p	CLIP-seq
MIRT1180095	hsa-miR-136	CLIP-seq
MIRT1180096	hsa-miR-421	CLIP-seq
MIRT1180097	hsa-miR-4446-5p	CLIP-seq
MIRT1180098	hsa-miR-4470	CLIP-seq
MIRT1180099	hsa-miR-4709-5p	CLIP-seq
MIRT1180100	hsa-miR-4742-5p	CLIP-seq
MIRT1180101	hsa-miR-4755-5p	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2281436	hsa-miR-3613-3p	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT2579741	hsa-miR-1255a	CLIP-seq
MIRT2579742	hsa-miR-1255b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2579744	hsa-miR-142-5p	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2579751	hsa-miR-337-3p	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579752	hsa-miR-3685	CLIP-seq
MIRT2579753	hsa-miR-384	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2579756	hsa-miR-4314	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579758	hsa-miR-4670-3p	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2579765	hsa-miR-548a-5p	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579766	hsa-miR-548ab	CLIP-seq
MIRT2579767	hsa-miR-548ac	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2579768	hsa-miR-548ak	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2579769	hsa-miR-548b-5p	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2579771	hsa-miR-548c-5p	CLIP-seq
MIRT2579772	hsa-miR-548d-3p	CLIP-seq
MIRT2579773	hsa-miR-548d-5p	CLIP-seq
MIRT2579774	hsa-miR-548h	CLIP-seq
MIRT2579775	hsa-miR-548i	CLIP-seq
MIRT2579776	hsa-miR-548j	CLIP-seq
MIRT2579777	hsa-miR-548k	CLIP-seq
MIRT2579778	hsa-miR-548l	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579779	hsa-miR-548w	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579780	hsa-miR-548y	CLIP-seq
MIRT2579781	hsa-miR-548z	CLIP-seq
MIRT2579782	hsa-miR-559	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579784	hsa-miR-659	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2579788	hsa-miR-9	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	21211617
GO:0004672	Function	Protein kinase activity	IDA	15604234
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	14690447, 24510904, 24947832, 26167768, 26290490
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	15604234
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15604234
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	IDA
GO:0006468	Process	Protein phosphorylation	IDA	19158487
GO:0007049	Process	Cell cycle	IEA
GO:0016301	Function	Kinase activity	IMP	19158487
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0042769	Process	DNA damage response, detection of DNA damage	IMP	15604234
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IMP	21211617
GO:0071889	Function	14-3-3 protein binding	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 604588
• HGNC: 7744
• e!Ensembl: ENSG00000137601

Protein

• UniProt ID: Q96PY6
• Protein name: Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55)
• Protein function: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA
• PDB: 4APC, 4B9D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 258	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High fetal expression in the brain and kidney. {ECO:0000269|PubMed:21211617}.
• Sequence:

  MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKH
  PNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVH
  DRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPY
  NNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFK
  RNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSI
  SVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISE
  EAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGE
  VKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGIL
  PGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQR
  KREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADM
  RRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHE
  TGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENL
  KAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFS
  TTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEG
  EKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLET
  EILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSD
  IHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSH
  LPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEID
  EIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEP
  TANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFE
  KFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE

• Sequence length: 1258

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic lateral sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	27455347, 26945885
Asphyxiating thoracic dystrophy	Saldino-Noonan Syndrome, Asphyxiating Thoracic Dystrophy 1	rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980, rs387906982, rs185089786, rs387907060, rs397514637, rs431905507, rs138004478, rs786205645, rs794727944, rs780539887, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs864622358, rs200460601, rs755883373, rs754919042, rs886039815, rs886039812, rs758522600, rs886039795, rs201037487, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs431905497, rs368631447, rs759086770, rs775836730, rs1456300819, rs1554478948, rs1554770620, rs1554771066, rs555339053, rs896105030, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555051720, rs745870321, rs1555052524, rs901629870, rs1555054771, rs1461272672, rs780855765, rs1555060411, rs1243999036, rs1555060940, rs1555061228, rs747348765, rs1322884865, rs1555062340, rs1555063811, rs537704873, rs1386343205, rs762588952, rs1350329646, rs1555064376, rs1555066796, rs200614421, rs964711006, rs1196317554, rs747857715, rs1214801816, rs371940321, rs1555068270, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1555077194, rs780600124, rs1261505725, rs200710887, rs181011657, rs1555082470, rs1453448143, rs369658526, rs766816050, rs756811136, rs368654019, rs1223907858, rs759549373, rs760214276, rs1565317399, rs1565329461, rs767846762, rs1565359085, rs751891969, rs1565390180, rs1384888093, rs1565394086, rs1565438488, rs561778796, rs373536938, rs767206815, rs371932985, rs372878677, rs1577822861, rs1327583103, rs1862810311	22499340, 21211617
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
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dextrocardia	Dextrocardia	rs1555672928
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
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
Lung carcinoma	Large cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Mohr syndrome	Mohr Syndrome	rs985064686, rs1553970289	27530628
Motor neuron disease	Motor Neuron Disease	rs121912431, rs121912439, rs121912437, rs80356719, rs121912441, rs1131690782, rs1131690775, rs895824243, rs1131690781	28089114
Orofaciodigital syndrome	Oral-facial-digital syndrome, type 2, Orofaciodigital syndrome type 2	rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845, rs312262858, rs587777067, rs587777653, rs587777654, rs149366137, rs606231258, rs606231259, rs606231260, rs375009168, rs606231261, rs730882217, rs764091969, rs752171066, rs147416429, rs749523755, rs863225159, rs141153181, rs777686211, rs869312898, rs149170427, rs886039813, rs1060500123, rs1555526172, rs1553741312, rs1555901146, rs1555900675, rs1555900734, rs1555901137, rs1555901169, rs1555904480, rs1569145145, rs1560127636, rs1174615027, rs1565237232, rs1575420160, rs1571603072, rs1602904530, rs773114666, rs1589623689, rs1602826217, rs1602942625, rs766699868	27530628
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358
Polydactyly	Polydactyly, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	21211617
Polysyndactyly	Polysyndactyly of hallux	rs1583729562, rs121917713
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31268507
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Short rib-polydactyly syndrome	Short Rib-Polydactyly Syndrome, Short rib-polydactyly syndrome, Beemer type, Short rib-polydactyly syndrome, Majewski type	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815	22499340, 21211617

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Mental depression	Depressive disorder			ClinVar
Thoracic dysplasia	short-rib thoracic dysplasia 6 with or without polydactyly			GenCC
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis, susceptibility to, 24			GenCC
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome, Majewski type			GenCC
Eosinophilia	Eosinophilia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	27455347, 28710492, 28935222, 29929116, 30940688, 30976013, 31768050, 32462798, 33709219, 36443167, 37188479, 37328865, 37585529, 37849306
Amyotrophic Lateral Sclerosis	Stimulate	29149916
Amyotrophic lateral sclerosis 1	Associate	27455347
Breast Neoplasms	Associate	27081041
Carcinoma Hepatocellular	Associate	37043475
Carcinoma Non Small Cell Lung	Associate	35105934
Carcinoma Renal Cell	Associate	24970796
Ciliary Motility Disorders	Associate	27530628
Ciliopathies	Associate	21211617, 28017521, 28710492
Cysts	Associate	23255108
Fetal Diseases	Associate	37875969
Genetic Diseases Inborn	Associate	28710492
HEM dysplasia	Associate	32752906
Liver Neoplasms	Associate	35426263, 37043475
Lymphatic Metastasis	Stimulate	31906878
Motor Neuron Disease	Associate	28089114, 37585529
Muscle Weakness	Associate	32462798
Neoplasms	Associate	28710492, 31906878, 31914854
Neurodegenerative Diseases	Associate	37849306
Neuroendocrine Tumors	Associate	34571875
Orofaciodigital Syndromes	Associate	27530628, 28710492
Osteochondrodysplasias	Associate	21211617
Pancreatic Neoplasms	Associate	26546047
Parkinson Disease	Associate	33523105, 37328865
Polycystic Kidney Diseases	Associate	28710492
Prostatic Neoplasms	Associate	31914854
Short Rib Polydactyly Syndrome	Associate	21211617, 22482978, 22795106, 28710492
Short rib polydactyly syndrome Verma Naumoff type	Associate	22795106
Spondylometaphyseal dysplasia axial	Associate	37188479
Thyroid Neoplasms	Associate	31906878
Wilms Tumor	Associate	26317783