EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)

Gene

• Entrez ID: 9451
• Gene name: Eukaryotic translation initiation factor 2 alpha kinase 3
• Gene symbol: EIF2AK3
• Synonyms: PEK, PERK, WRS
• Chromosome: 2
• Chromosome location: 2p11.2
• Summary: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55791823	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121908569	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908570	C>A,G	Pathogenic	Stop gained, coding sequence variant, missense variant
rs797045558	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864621972	G>A	Pathogenic	Coding sequence variant, stop gained
rs869025178	->A	Pathogenic	Coding sequence variant, stop gained
rs1205989324	C>G,T	Likely-pathogenic	Splice donor variant
rs1558652941	TTTC>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019050	hsa-miR-335-5p	Microarray	18185580
MIRT024874	hsa-miR-215-5p	Microarray	19074876
MIRT026817	hsa-miR-192-5p	Microarray	19074876
MIRT030259	hsa-miR-26b-5p	Microarray	19088304
MIRT956582	hsa-miR-1251	CLIP-seq
MIRT956583	hsa-miR-1275	CLIP-seq
MIRT956584	hsa-miR-1297	CLIP-seq
MIRT956585	hsa-miR-1305	CLIP-seq
MIRT956586	hsa-miR-142-5p	CLIP-seq
MIRT956587	hsa-miR-2113	CLIP-seq
MIRT956588	hsa-miR-218	CLIP-seq
MIRT956589	hsa-miR-224	CLIP-seq
MIRT956590	hsa-miR-2276	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT956592	hsa-miR-26a	CLIP-seq
MIRT956593	hsa-miR-26b	CLIP-seq
MIRT956594	hsa-miR-30a	CLIP-seq
MIRT956595	hsa-miR-30b	CLIP-seq
MIRT956596	hsa-miR-30c	CLIP-seq
MIRT956597	hsa-miR-30d	CLIP-seq
MIRT956598	hsa-miR-30e	CLIP-seq
MIRT956599	hsa-miR-3159	CLIP-seq
MIRT956600	hsa-miR-3162-5p	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956602	hsa-miR-320a	CLIP-seq
MIRT956603	hsa-miR-320b	CLIP-seq
MIRT956604	hsa-miR-320c	CLIP-seq
MIRT956605	hsa-miR-320d	CLIP-seq
MIRT956606	hsa-miR-335	CLIP-seq
MIRT956607	hsa-miR-340	CLIP-seq
MIRT956608	hsa-miR-3607-3p	CLIP-seq
MIRT956609	hsa-miR-3616-3p	CLIP-seq
MIRT956610	hsa-miR-3617	CLIP-seq
MIRT956611	hsa-miR-3653	CLIP-seq
MIRT956612	hsa-miR-3675-3p	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT956614	hsa-miR-4260	CLIP-seq
MIRT956615	hsa-miR-4263	CLIP-seq
MIRT956616	hsa-miR-4271	CLIP-seq
MIRT956617	hsa-miR-4328	CLIP-seq
MIRT956618	hsa-miR-4422	CLIP-seq
MIRT956619	hsa-miR-4423-3p	CLIP-seq
MIRT956620	hsa-miR-4429	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956623	hsa-miR-4457	CLIP-seq
MIRT956624	hsa-miR-4465	CLIP-seq
MIRT956625	hsa-miR-4520a-3p	CLIP-seq
MIRT956626	hsa-miR-4520b-3p	CLIP-seq
MIRT956627	hsa-miR-4525	CLIP-seq
MIRT956628	hsa-miR-4529-3p	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT956631	hsa-miR-4665-5p	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956633	hsa-miR-4686	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT956635	hsa-miR-4699-3p	CLIP-seq
MIRT956636	hsa-miR-4700-3p	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT956638	hsa-miR-4710	CLIP-seq
MIRT956639	hsa-miR-4714-3p	CLIP-seq
MIRT956640	hsa-miR-4721	CLIP-seq
MIRT956641	hsa-miR-4723-5p	CLIP-seq
MIRT956642	hsa-miR-4725-3p	CLIP-seq
MIRT956643	hsa-miR-4772-3p	CLIP-seq
MIRT956644	hsa-miR-4777-5p	CLIP-seq
MIRT956645	hsa-miR-4792	CLIP-seq
MIRT956646	hsa-miR-495	CLIP-seq
MIRT956647	hsa-miR-498	CLIP-seq
MIRT956648	hsa-miR-513b	CLIP-seq
MIRT956649	hsa-miR-518d-5p	CLIP-seq
MIRT956650	hsa-miR-519b-5p	CLIP-seq
MIRT956651	hsa-miR-519c-5p	CLIP-seq
MIRT956652	hsa-miR-520c-5p	CLIP-seq
MIRT956653	hsa-miR-522	CLIP-seq
MIRT956654	hsa-miR-526a	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT956657	hsa-miR-582-5p	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT956659	hsa-miR-603	CLIP-seq
MIRT956660	hsa-miR-625	CLIP-seq
MIRT956661	hsa-miR-641	CLIP-seq
MIRT956662	hsa-miR-656	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq
MIRT1983297	hsa-miR-1246	CLIP-seq
MIRT956585	hsa-miR-1305	CLIP-seq
MIRT1983298	hsa-miR-154	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT1983299	hsa-miR-24	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956606	hsa-miR-335	CLIP-seq
MIRT956612	hsa-miR-3675-3p	CLIP-seq
MIRT1983300	hsa-miR-3686	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT1983301	hsa-miR-3942-3p	CLIP-seq
MIRT1983302	hsa-miR-4267	CLIP-seq
MIRT1983303	hsa-miR-4284	CLIP-seq
MIRT1983304	hsa-miR-4313	CLIP-seq
MIRT956617	hsa-miR-4328	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT1983305	hsa-miR-4633-5p	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT1983306	hsa-miR-4694-3p	CLIP-seq
MIRT1983307	hsa-miR-4698	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT1983308	hsa-miR-4715-5p	CLIP-seq
MIRT956646	hsa-miR-495	CLIP-seq
MIRT956647	hsa-miR-498	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT1983309	hsa-miR-571	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT1983310	hsa-miR-579	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT1983311	hsa-miR-595	CLIP-seq
MIRT956659	hsa-miR-603	CLIP-seq
MIRT1983312	hsa-miR-607	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq
MIRT2218505	hsa-miR-1323	CLIP-seq
MIRT956586	hsa-miR-142-5p	CLIP-seq
MIRT956600	hsa-miR-3162-5p	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956602	hsa-miR-320a	CLIP-seq
MIRT956603	hsa-miR-320b	CLIP-seq
MIRT956604	hsa-miR-320c	CLIP-seq
MIRT956605	hsa-miR-320d	CLIP-seq
MIRT956607	hsa-miR-340	CLIP-seq
MIRT956609	hsa-miR-3616-3p	CLIP-seq
MIRT956619	hsa-miR-4423-3p	CLIP-seq
MIRT956620	hsa-miR-4429	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT956638	hsa-miR-4710	CLIP-seq
MIRT956640	hsa-miR-4721	CLIP-seq
MIRT956645	hsa-miR-4792	CLIP-seq
MIRT956653	hsa-miR-522	CLIP-seq
MIRT2218506	hsa-miR-548o	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT956662	hsa-miR-656	CLIP-seq
MIRT2521964	hsa-miR-1537	CLIP-seq
MIRT956587	hsa-miR-2113	CLIP-seq
MIRT956588	hsa-miR-218	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT2521965	hsa-miR-451	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT2521966	hsa-miR-4789-5p	CLIP-seq
MIRT956657	hsa-miR-582-5p	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	ISS
GO:0001503	Process	Ossification	IMP	12086964
GO:0001525	Process	Angiogenesis	IMP	22915762
GO:0002063	Process	Chondrocyte development	ISS
GO:0004672	Function	Protein kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IBA	21873635
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IDA	10026192, 10677345, 11907036
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IMP	12086964, 25329545
GO:0005515	Function	Protein binding	IPI	11907036, 25393282, 26268696, 27238082
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IC	11907036
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	TAS	12086964
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	11907036
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006468	Process	Protein phosphorylation	ISS
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	ISS
GO:0006983	Process	ER overload response	IDA	10677345, 11907036
GO:0007029	Process	Endoplasmic reticulum organization	ISS
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	22915762
GO:0010628	Process	Positive regulation of gene expression	IMP	22915762
GO:0010998	Process	Regulation of translational initiation by eIF2 alpha phosphorylation	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0017148	Process	Negative regulation of translation	TAS	12086964
GO:0018105	Process	Peptidyl-serine phosphorylation	ISS
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IPI	23103912
GO:0019903	Function	Protein phosphatase binding	IPI	22169477
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	NAS	22013210, 22934019
GO:0030282	Process	Bone mineralization	ISS
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	10677345, 11907036, 22169477
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS	19816510
GO:0031018	Process	Endocrine pancreas development	IMP	12086964
GO:0031642	Process	Negative regulation of myelination	ISS
GO:0032057	Process	Negative regulation of translational initiation in response to stress	TAS	10677345, 12086964, 19816510
GO:0034198	Process	Cellular response to amino acid starvation	IMP	25329545
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	19061639
GO:0036492	Process	EiF2alpha phosphorylation in response to endoplasmic reticulum stress	IMP	25329545
GO:0036492	Process	EiF2alpha phosphorylation in response to endoplasmic reticulum stress	TAS	22934019
GO:0036499	Process	PERK-mediated unfolded protein response	TAS	22934019
GO:0042149	Process	Cellular response to glucose starvation	IMP	22915762
GO:0042802	Function	Identical protein binding	IPI	11907036
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IMP	22915762
GO:0046777	Process	Protein autophosphorylation	IDA	10026192, 11907036
GO:0046777	Process	Protein autophosphorylation	IMP	12086964
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0060734	Process	Regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	ISS
GO:0070417	Process	Cellular response to cold	IMP	25329545
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	ISS
GO:1902235	Process	Regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	23000344
GO:1990737	Process	Response to manganese-induced endoplasmic reticulum stress	IEA

Other IDs

• MIM: 604032
• HGNC: 3255
• e!Ensembl: ENSG00000172071

Protein

• UniProt ID: Q9NZJ5
• Protein name: Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK) (Protein tyrosine kinase EIF2AK3) (EC 2.7.10.2)
• Protein function: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:1067
• PDB: 4G31, 4G34, 4M7I, 4X7H, 4X7J, 4X7K, 4X7L, 4X7N, 4X7O, 4YZS, 5SV7, 7MF0, 8EQ9, 8EQD, 8EQE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	593 → 678	Protein kinase domain	Domain
  PF00069	Pkinase	865 → 1077	Protein kinase domain	Domain

• Sequence:

  MERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVP
  AAGAVAAAEVTVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSLVIISTLDGRIAALDP
  ENHGKKQWDLDVGSGSLVSSSLSKPEVFGNKMIIPSLDGALFQWDQDRESMETVPFTVES
  LLESSYKFGDDVVLVGGKSLTTYGLSAYSGKVRYICSALGCRQWDSDEMEQEEDILLLQR
  TQKTVRAVGPRSGNEKWNFSVGHFELRYIPDMETRAGFIESTFKPNENTEESKIISDVEE
  QEAAIMDIVIKVSVADWKVMAFSKKGGHLEWEYQFCTPIASAWLLKDGKVIPISLFDDTS
  YTSNDDVLEDEEDIVEAARGATENSVYLGMYRGQLYLQSSVRISEKFPSSPKALESVTNE
  NAIIPLPTIKWKPLIHSPSRTPVLVGSDEFDKCLSNDKFSHEEYSNGALSILQYPYDNGY
  YLPYYKRERNKRSTQITVRFLDNPHYNKNIRKKDPVLLLHWWKEIVATILFCIIATTFIV
  RRLFHPHPHRQRKESETQCQTENKYDSVSGEANDSSWNDIKNSGYISRYLTDFEPIQCLG
  RGGFGVVFEAKNKVDDCNYAIKRIRLPNRELAREKVMREVKALAKLEHPGIVRYFNAWLE
  APPEKWQEKMDEIWLKDESTDWPLSSPSPMDAPSVKIRRMDPFATKEHIEIIAPSPQRSR
  SFSVGISCDQTSSSESQFSPLEFSGMDHEDISESVDAAYNLQDSCLTDCDVEDGTMDGND
  EGHSFELCPSEASPYVRSRERTSSSIVFEDSGCDNASSKEEPKTNRLHIGNHCANKLTAF
  KPTSSKSSSEATLSISPPRPTTLSLDLTKNTTEKLQPSSPKVYLYIQMQLCRKENLKDWM
  NGRCTIEERERSVCLHIFLQIAEAVEFLHSKGLMHRDLKPSNIFFTMDDVVKVGDFGLVT
  AMDQDEEEQTVLTPMPAYARHTGQVGTKLYMSPEQIHGNSYSHKVDIFSLGLILFELLYP
  FSTQMERVRTLTDVRNLKFPPLFTQKYPCEYVMVQDMLSPSPMERPEAINIIENAVFEDL
  DFPGKTVLRQRSRSLSSSGTKHSRQSNNSHSPLPSN

• Sequence length: 1116

Pathways

KEGG:

Mitophagy - animal
Autophagy - animal
Protein processing in endoplasmic reticulum
Apoptosis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Hepatitis C
Measles
Herpes simplex virus 1 infection
Lipid and atherosclerosis

Reactome:

PERK regulates gene expression

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
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
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Neonatal diabetes mellitus, Transient neonatal 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
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	rs121913142
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liver failure	Liver Failure, Acute, Chronic Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939
Neutropenia	Neutropenia	rs879253882
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Renal insufficiency	Renal Insufficiency	rs1596536873
Wolcott-rallison syndrome	Wolcott-Rallison syndrome	rs869025178, rs121908569, rs869025179, rs1558652941, rs121908570, rs864621972, rs797045558, rs1553407942, rs1178109063	7551159, 26380986, 19837917, 10932183, 21050479

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital epicanthus	Congenital Epicanthus
Pancreatic hypoplasia	Congenital hypoplasia of pancreas	rs28509441, rs193922358, rs199644078, rs1380564366, rs143517122
Dwarfism	Dwarfism
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency
Grand mal status epilepticus	Grand Mal Status Epilepticus		16492139
High palate	Byzanthine arch palate
Hyperglycemia	Hyperglycemia
Hyperopia	Hyperopia
Hyperuricemia	Hyperuricemia
Hypoglycemia	Hypoglycemia
Ketosis	Ketosis
Malformation of cortical development	Malformations of Cortical Development, Group II
Microdontia	Microdontia (disorder)
Motor delay	Clumsiness - motor delay
Myocardial ischemia	Myocardial Ischemia		19041636
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		16492139
Osteopenia	Osteopenia
Petit mal status	Petit mal status		16492139
Progressive supranuclear ophthalmoplegia	Ophthalmoplegia, Progressive Supranuclear		21685912
Progressive supranuclear palsy	Progressive supranuclear palsy		21685912
Renal tubular disorder	Renal tubular disorder
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		16492139
Supranuclear palsy	Supranuclear Palsy, Progressive, 1		21685912