HINT1 (histidine triad nucleotide binding protein 1)

Gene

• Entrez ID: 3094
• Gene name: Histidine triad nucleotide binding protein 1
• Gene symbol: HINT1
• Synonyms (NCBI Gene): HINT, NMAN, PKCI-1, PRKCNH1
• Disease Acronyms (UniProt): NMAN
• Chromosome: 5
• Chromosome location: 5q23.3
• Summary: This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149782619	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs373849532	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397514489	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514490	C>A,G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514491	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514492	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514493	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs762701283	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554088064	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1561537267	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1580686455	A>G	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047137	hsa-miR-183-5p	CLASH	23622248
MIRT037482	hsa-miR-744-5p	CLASH	23622248
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT664308	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT664307	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT664306	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT664304	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT664305	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT664303	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT664302	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT664301	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT664300	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT664298	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT664299	hsa-miR-4257	HITS-CLIP	23824327
MIRT664297	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT664296	hsa-miR-1827	HITS-CLIP	23824327
MIRT664295	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT664294	hsa-miR-3612	HITS-CLIP	23824327
MIRT664293	hsa-miR-650	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT664292	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT664291	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638609	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT638608	hsa-miR-4284	HITS-CLIP	23824327
MIRT638607	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT638600	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT638599	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT638598	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638590	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT638589	hsa-miR-3122	HITS-CLIP	23824327
MIRT638588	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT638587	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT638586	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT448753	hsa-miR-216b-5p	PAR-CLIP	22100165
MIRT448752	hsa-miR-4282	PAR-CLIP	22100165
MIRT448751	hsa-miR-944	PAR-CLIP	22100165
MIRT448750	hsa-miR-4635	PAR-CLIP	22100165
MIRT448749	hsa-miR-3924	PAR-CLIP	22100165
MIRT448748	hsa-miR-4795-3p	PAR-CLIP	22100165
MIRT448747	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448746	hsa-miR-675-3p	PAR-CLIP	22100165
MIRT448745	hsa-miR-578	PAR-CLIP	22100165
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT664308	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT664307	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT664306	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT664304	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT664305	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT664303	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT664302	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT664301	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT664300	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT664298	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT664299	hsa-miR-4257	HITS-CLIP	23824327
MIRT664297	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT664296	hsa-miR-1827	HITS-CLIP	23824327
MIRT664295	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT664294	hsa-miR-3612	HITS-CLIP	23824327
MIRT664293	hsa-miR-650	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT664292	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT664291	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638609	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT638608	hsa-miR-4284	HITS-CLIP	23824327
MIRT638607	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT638600	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT638599	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT638598	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638590	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT638589	hsa-miR-3122	HITS-CLIP	23824327
MIRT638588	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT638587	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT638586	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT448753	hsa-miR-216b-5p	PAR-CLIP	22100165
MIRT448752	hsa-miR-4282	PAR-CLIP	22100165
MIRT448751	hsa-miR-944	PAR-CLIP	22100165
MIRT448750	hsa-miR-4635	PAR-CLIP	22100165
MIRT448749	hsa-miR-3924	PAR-CLIP	22100165
MIRT448748	hsa-miR-4795-3p	PAR-CLIP	22100165
MIRT448747	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448746	hsa-miR-675-3p	PAR-CLIP	22100165
MIRT448745	hsa-miR-578	PAR-CLIP	22100165
MIRT2388985	hsa-miR-136	CLIP-seq
MIRT2388986	hsa-miR-216b	CLIP-seq
MIRT2388987	hsa-miR-4672	CLIP-seq
MIRT2388988	hsa-miR-526b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	16835243
GO:0000166	Function	Nucleotide binding	IEA
GO:0005080	Function	Protein kinase C binding	TAS	9770345
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	TAS	8812426
GO:0005886	Component	Plasma membrane	IDA
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	16835243
GO:0007165	Process	Signal transduction	TAS	8812426
GO:0009154	Process	Purine ribonucleotide catabolic process	IBA	21873635
GO:0009154	Process	Purine ribonucleotide catabolic process	IDA	16835243
GO:0016787	Function	Hydrolase activity	IBA	21873635
GO:0016787	Function	Hydrolase activity	IDA	16835243
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IDA	17217311
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IMP	16835243

Other IDs

• MIM: 601314
• HGNC: 4912
• e!Ensembl: ENSG00000169567

Protein

• UniProt ID: P49773
• Protein name: Adenosine 5'-monophosphoramidase HINT1 (EC 3.9.1.-) (Desumoylating isopeptidase HINT1) (EC 3.4.22.-) (Histidine triad nucleotide-binding protein 1) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1)
• Protein function: Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:172
• PDB: 1AV5, 1KPA, 1KPB, 1KPC, 1KPE, 1KPF, 3TW2, 4EQE, 4EQG, 4EQH, 4ZKL, 4ZKV, 5ED3, 5ED6, 5EMT, 5I2E, 5I2F, 5IPB, 5IPC, 5IPD, 5IPE, 5KLY, 5KLZ, 5KM0, 5KM1, 5KM2, 5KM3, 5KM4, 5KM6, 5KMA, 5KMB, 5KMC, 5O8I, 5WA8, 5WA9, 5WAA, 6B42, 6G9Z, 6J53, 6J58, 6J5S, 6J5Z, 6J64, 6J65, 6N3V, 6N3W, 6N3X, 6N3Y, 6YQM, 7Q2U, 8P8P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01230	HIT	24 → 121	HIT domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed.
• Sequence:

  MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHI
  SQISVAEDDDESLLGHLMIVGKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQ
  MHWPPG

• Sequence length: 126

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Axonal neuropathy with neuromyotonia	Autosomal recessive axonal neuropathy with neuromyotonia	rs149782619, rs397514489, rs397514490, rs373849532, rs397514491, rs397514492, rs397514493, rs1554088064, rs762701283, rs1580682390, rs1028404937, rs1561535921, rs1580686455
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887
Mental retardation	Mild Mental Retardation	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
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	22961002
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
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	17203012, 20514075

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease			GenCC
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Gout	Gout			GWAS
Crohn Disease	Crohn Disease			GWAS
Dermatitis	Dermatitis			GWAS
Asthma	Asthma			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alcoholic Neuropathy	Associate	24105373, 34562060, 35501818, 39596683
Alzheimer Disease	Associate	34225819
Alzheimer Disease	Inhibit	36195955
Anxiety	Associate	37373392, 38279213
Autistic Disorder	Associate	36150388
Carcinogenesis	Associate	15256063
Carcinoma Hepatocellular	Associate	19081673, 19089909, 27623945, 35241097
Carcinoma Non Small Cell Lung	Associate	15256063
Charcot Marie Tooth Disease	Associate	25231362, 26556829, 35325986, 36242072, 39596683
Charcot Marie Tooth disease Type 4E	Associate	36242072
Colorectal Neoplasms	Associate	10555761
Crohn Disease	Inhibit	38103512
Diplopia	Associate	35501818
Distal Hereditary Motor Neuropathy Type II	Associate	24105373, 36242072
Giant Axonal Neuropathy	Associate	33663550, 35501818
Hyperkinesis	Associate	39596683
Inflammatory Bowel Diseases	Associate	38103512
Intellectual Disability	Associate	39596683
Isaacs Syndrome	Associate	24105373, 33663550, 34562060, 35501818, 36242072, 39596683
Jensen syndrome	Associate	39596683
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26460262
Leukemia Myeloid Acute	Associate	30480765
Muscle Cramp	Associate	33663550
Muscle Neoplasms	Associate	33663550
Muscular dystrophy congenital with central nervous system involvement	Associate	33663550
Myasthenia Gravis	Associate	35501818
Myokymia	Associate	39596683
Neoplasms	Inhibit	15256063, 16835243, 19089909, 19112177, 27623945, 35241097
Neoplasms	Associate	16835243, 19081673, 28768489
Neoplastic Syndromes Hereditary	Associate	35501818
Nervous System Diseases	Inhibit	30622225
Nervous System Diseases	Associate	34562060
Neuronopathy Distal Hereditary Motor Type V	Associate	24105373
Peripheral Nervous System Diseases	Associate	33663550, 34562060, 35501818
Personality Disorders	Associate	37373392
Polyneuropathies	Associate	36242072
Prostatic Neoplasms	Associate	24386364
Ptosis Hereditary Congenital 2	Associate	35501818
Shoulder Fractures	Associate	33663550