ALDH18A1 (aldehyde dehydrogenase 18 family member A1)

Gene

• Entrez ID: 5832
• Gene name: Aldehyde dehydrogenase 18 family member A1
• Gene symbol: ALDH18A1
• Synonyms (NCBI Gene): ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
• Disease Acronyms (UniProt): ADCL3, ARCL3A, SPG9A, SPG9B
• Chromosome: 10
• Chromosome location: 10q24.1
• Summary: This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434582	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121434583	G>A	Pathogenic	Missense variant, coding sequence variant
rs150526956	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374052426	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs537043237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs556267618	C>T	Likely-pathogenic	Splice donor variant
rs587777858	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs748925635	C>T	Pathogenic	Coding sequence variant, missense variant
rs752669339	C>G	Pathogenic	Coding sequence variant, missense variant
rs758543218	G>A	Pathogenic	Coding sequence variant, stop gained
rs762271422	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762742204	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs766264810	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs768323248	C>T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs774047299	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs786205614	T>C	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs863223315	C>T	Pathogenic	Splice donor variant
rs863224945	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225044	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225045	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864321669	C>G	Pathogenic	Coding sequence variant, missense variant
rs864321670	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs869320690	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057518541	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1194593234	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1462559161	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs1555262375	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555264243	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1566039159	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022930	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031825	hsa-miR-16-5p	Proteomics	18668040
MIRT050486	hsa-miR-20a-5p	CLASH	23622248
MIRT037662	hsa-miR-744-5p	CLASH	23622248
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT776918	hsa-miR-1200	CLIP-seq
MIRT776919	hsa-miR-1238	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT776925	hsa-miR-3162-3p	CLIP-seq
MIRT776926	hsa-miR-3192	CLIP-seq
MIRT776927	hsa-miR-330-3p	CLIP-seq
MIRT776928	hsa-miR-335	CLIP-seq
MIRT776929	hsa-miR-3617	CLIP-seq
MIRT776930	hsa-miR-4324	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT776933	hsa-miR-544b	CLIP-seq
MIRT776934	hsa-miR-629	CLIP-seq
MIRT776935	hsa-miR-641	CLIP-seq
MIRT776936	hsa-miR-642b	CLIP-seq
MIRT776937	hsa-miR-873	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT1929430	hsa-miR-4300	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT1929431	hsa-miR-4494	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT1929432	hsa-miR-550b	CLIP-seq
MIRT1929433	hsa-miR-920	CLIP-seq
MIRT2170089	hsa-miR-3935	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2170091	hsa-miR-4691-5p	CLIP-seq
MIRT2170092	hsa-miR-491-5p	CLIP-seq
MIRT2170093	hsa-miR-766	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472884	hsa-miR-3974	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2674895	hsa-miR-224	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004349	Function	Glutamate 5-kinase activity	IDA	11092761
GO:0004349	Function	Glutamate 5-kinase activity	IMP	26297558
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IBA	21873635
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IDA	11092761
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IMP	26297558
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	26297558, 26320891
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006536	Process	Glutamate metabolic process	IMP	11092761
GO:0006561	Process	Proline biosynthetic process	IMP	11092761, 26297558
GO:0006592	Process	Ornithine biosynthetic process	IMP	11092761, 26297558
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0016310	Process	Phosphorylation	IEA
GO:0019240	Process	Citrulline biosynthetic process	IMP	11092761, 26297558
GO:0042802	Function	Identical protein binding	IDA	26297558
GO:0055129	Process	L-proline biosynthetic process	IEA

Other IDs

• MIM: 138250
• HGNC: 9722
• e!Ensembl: ENSG00000059573

Protein

• UniProt ID: P54886
• Protein name: Delta-1-pyrroline-5-carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5-kinase (GK) (EC 2.7.2.11) (Gamma-glutamyl kinase); Gamma-glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate-5-semialdehyde dehydro
• Protein function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269|PubMed:10037775, ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558, ECO:0000269|
• PDB: 2H5G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00696	AA_kinase	71 → 329	Amino acid kinase family	Family
  PF00171	Aldedh	350 → 662	Aldehyde dehydrogenase family	Family

• Sequence:

  MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
  FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
  AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
  SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
  ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
  SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
  PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
  PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
  ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
  EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
  VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
  VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
  WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
  KYLHENLPIPQRNTN

• Sequence length: 795

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Glutamate and glutamine metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cutis laxa	Cutis Laxa, Cutis Laxa, Autosomal Dominant, CUTIS LAXA, AUTOSOMAL DOMINANT 3, Autosomal dominant cutis laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	26320891, 26297558, 26026163, 22829427, 29903433, 18388779, 24913064
De barsy syndrome	De Barsy syndrome, ALDH18A1-related De Barsy syndrome	rs121918377, rs121918378, rs121434583, rs863223315, rs758601634, rs587777858, rs863225045, rs1555262375, rs121918376, rs1555264243, rs1194593234, rs556267618, rs752297179, rs748925635	24816252, 22829427, 21739576, 29903433, 11092761, 22170564, 26297558, 18388779, 24767728, 24913064, 18478038, 26026163
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
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
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
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder), SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, Autosomal dominant spastic paraplegia type 9B, Autosomal dominant spastic paraplegia type 9A, Autosomal recessive spastic paraplegia type 9B	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	29903433, 26026163, 26297558, 26320891

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Peripheral axonal neuropathy	Peripheral axonal neuropathy			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Spastic Paraplegia	autosomal recessive complex spastic paraplegia type 9B, hereditary spastic paraplegia 9A, autosomal dominant complex spastic paraplegia type 9B			GenCC