NEUROD2 (neuronal differentiation 2)

Gene

• Entrez ID: 4761
• Gene name: Neuronal differentiation 2
• Gene symbol: NEUROD2
• Synonyms (NCBI Gene): DEE72, EIEE72, NDRF, bHLHa1
• Disease Acronyms (UniProt): DEE72
• Chromosome: 17
• Chromosome location: 17q12
• Summary: This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1323339153	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1567841596	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018380	hsa-miR-335-5p	Microarray	18185580
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT740019	hsa-miR-297	HITS-CLIP	28735896
MIRT740020	hsa-miR-3149	HITS-CLIP	28735896
MIRT740021	hsa-miR-4307	HITS-CLIP	28735896
MIRT740018	hsa-miR-567	HITS-CLIP	28735896
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1181279	hsa-miR-185	CLIP-seq
MIRT1181280	hsa-miR-1908	CLIP-seq
MIRT1181281	hsa-miR-3191	CLIP-seq
MIRT1181282	hsa-miR-34a	CLIP-seq
MIRT1181283	hsa-miR-3648	CLIP-seq
MIRT1181284	hsa-miR-4254	CLIP-seq
MIRT1181285	hsa-miR-4292	CLIP-seq
MIRT1181286	hsa-miR-4306	CLIP-seq
MIRT1181287	hsa-miR-4308	CLIP-seq
MIRT1181288	hsa-miR-4434	CLIP-seq
MIRT1181289	hsa-miR-449b	CLIP-seq
MIRT1181290	hsa-miR-4516	CLIP-seq
MIRT1181291	hsa-miR-4531	CLIP-seq
MIRT1181292	hsa-miR-4644	CLIP-seq
MIRT1181293	hsa-miR-4706	CLIP-seq
MIRT1181294	hsa-miR-4712-3p	CLIP-seq
MIRT1181295	hsa-miR-4749-5p	CLIP-seq
MIRT1181296	hsa-miR-663	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq
MIRT2052494	hsa-miR-1470	CLIP-seq
MIRT2052495	hsa-miR-4469	CLIP-seq
MIRT2052496	hsa-miR-4667-3p	CLIP-seq
MIRT2281859	hsa-miR-583	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007399	Process	Nervous system development	TAS	8816493
GO:0008306	Process	Associative learning	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0021695	Process	Cerebellar cortex development	ISS
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048666	Process	Neuron development	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0070888	Function	E-box binding	ISS
GO:0071257	Process	Cellular response to electrical stimulus	ISS
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000297	Process	Negative regulation of synapse maturation	ISS

Other IDs

• MIM: 601725
• HGNC: 7763
• e!Ensembl: ENSG00000171532

Protein

• UniProt ID: Q15784
• Protein name: Neurogenic differentiation factor 2 (NeuroD2) (Class A basic helix-loop-helix protein 1) (bHLHa1) (NeuroD-related factor) (NDRF)
• Protein function: Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	122 → 174	Helix-loop-helix DNA-binding domain	Domain
  PF12533	Neuro_bHLH	180 → 310	Neuronal helix-loop-helix transcription factor	Family

• Sequence:

  MLTRLFSEPGLLSDVPKFASWGDGEDDEPRSDKGDAPPPPPPAPGPGAPGPARAAKPVPL
  RGEEGTEATLAEVKEEGELGGEEEEEEEEEEGLDEAEGERPKKRGPKKRKMTKARLERSK
  LRRQKANARERNRMHDLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
  KRPDLVSYVQTLCKGLSQPTTNLVAGCLQLNSRNFLTEQGADGAGRFHGSGGPFAMHPYP
  YPCSRLAGAQCQAAGGLGGGAAHALRTHGYCAAYETLYAAAGGGGASPDYNSSEYEGPLS
  PPLCLNGNFSLKQDSSPDHEKSYHYSMHYSALPGSRPTGHGLVFGSSAVRGGVHSENLLS
  YDMHLHHDRGPMYEELNAFFHN

• Sequence length: 382

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
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
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Early infantile epileptic encephalopathy with suppression bursts, Epileptic encephalopathy, Early infantile epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	30323019
Episodic ataxia	Episodic Ataxia	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236, rs137852619, rs137852620, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs113994120, rs387906683, rs387906686, rs121908240, rs121908247, rs121908243, rs121908228, rs786200962, rs794727411, rs1553463427, rs796053166, rs121917753, rs1064794808, rs1555755977, rs1064794262, rs1064794263, rs1085308020, rs1553579488, rs746790849, rs1555762869, rs1555085761, rs1555085798, rs1555740805, rs1553578503, rs1555738369, rs1555751762, rs1315533129, rs1568473171, rs1568473233, rs1568493323, rs774224202, rs1568514371, rs1600272344, rs1600139781, rs1599294284, rs1600088360, rs374686479, rs1574571769, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs1600271575, rs1600180659, rs1702008435
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
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
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
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
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104

Unknown
Disease term	Disease name	Evidence	References	Source
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia			ClinVar
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC
Rheumatoid arthritis	Rheumatoid arthritis			GWAS
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome			GWAS
Asthma	Asthma			GWAS
Diabetes	Diabetes			GWAS
Hyperopia	Hyperopia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Dyslexia	Dyslexia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma in Situ	Associate	21731750
Breast Neoplasms Male	Associate	25906114
Developmental Disabilities	Associate	36494631
Neoplasms	Associate	25906114
Spasm	Associate	36494631
Spasms Infantile	Associate	35830182
Syndrome	Associate	36494631
Trisomy 18 Syndrome	Inhibit	22752091