ASAH1 (N-acylsphingosine amidohydrolase 1)

Gene

• Entrez ID: 427
• Gene name: N-acylsphingosine amidohydrolase 1
• Gene symbol: ASAH1
• Synonyms: AC, ACDase, ASAH, PHP, PHP32, SMAPME
• Chromosome: 8
• Chromosome location: 8p22
• Summary: This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853593	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs137853594	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137853595	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs137853596	T>C	Pathogenic	Missense variant, coding sequence variant
rs137853597	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs141068211	A>G	Uncertain-significance, likely-benign, pathogenic	Missense variant, coding sequence variant
rs145873635	G>A	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs147233112	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150268016	T>A,C	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs189892461	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs200455852	T>C,G	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs200758704	C>A,T	Likely-pathogenic, uncertain-significance, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs368345612	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs369707059	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs371666412	T>C	Pathogenic	Missense variant, coding sequence variant
rs377749094	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397509415	T>C	Pathogenic	Intron variant
rs543697946	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs746513660	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs756455049	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs761372687	GAAAA>-	Pathogenic	Intron variant
rs762756953	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs763842677	C>A	Likely-pathogenic	Splice donor variant
rs766257867	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs766395283	G>A,C	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained
rs767864356	T>C	Likely-pathogenic	Intron variant
rs771718522	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs771847002	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs794729663	C>A	Pathogenic	Stop gained, coding sequence variant
rs886062781	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs895669204	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs941670381	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1281024431	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1336696568	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1411267767	C>G,T	Likely-pathogenic	Splice donor variant
rs1421841663	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1554808625	C>G	Pathogenic	Coding sequence variant, missense variant
rs1564537266	T>C	Pathogenic	Coding sequence variant, missense variant
rs1588973202	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588973237	G>C	Pathogenic	Missense variant, coding sequence variant
rs1588973247	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1588974098	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1588974267	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1588974593	C>T	Likely-pathogenic	Intron variant
rs1588977010	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588977181	T>C	Likely-pathogenic	Splice acceptor variant
rs1588978684	->TTGAAG	Pathogenic	Inframe insertion, coding sequence variant
rs1588978706	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588978873	T>A	Pathogenic	Missense variant, coding sequence variant
rs1588980220	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1588982399	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1588982421	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1588986195	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588989947	ACC>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1588989964	A>C,T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1588990194	->G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1588999312	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1588999402	C>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019198	hsa-miR-335-5p	Microarray	18185580
MIRT048957	hsa-miR-92a-3p	CLASH	23622248
MIRT801581	hsa-miR-1252	CLIP-seq
MIRT801582	hsa-miR-153	CLIP-seq
MIRT801583	hsa-miR-186	CLIP-seq
MIRT801584	hsa-miR-3133	CLIP-seq
MIRT801585	hsa-miR-3163	CLIP-seq
MIRT801586	hsa-miR-3682-5p	CLIP-seq
MIRT801587	hsa-miR-3920	CLIP-seq
MIRT801588	hsa-miR-4257	CLIP-seq
MIRT801589	hsa-miR-4275	CLIP-seq
MIRT801590	hsa-miR-4330	CLIP-seq
MIRT801591	hsa-miR-448	CLIP-seq
MIRT801592	hsa-miR-452	CLIP-seq
MIRT801593	hsa-miR-4635	CLIP-seq
MIRT801594	hsa-miR-4676-3p	CLIP-seq
MIRT801595	hsa-miR-4687-3p	CLIP-seq
MIRT801596	hsa-miR-4744	CLIP-seq
MIRT801597	hsa-miR-4775	CLIP-seq
MIRT801598	hsa-miR-4789-5p	CLIP-seq
MIRT801599	hsa-miR-526b	CLIP-seq
MIRT801600	hsa-miR-568	CLIP-seq
MIRT801601	hsa-miR-590-3p	CLIP-seq
MIRT801602	hsa-miR-656	CLIP-seq
MIRT801603	hsa-miR-943	CLIP-seq
MIRT801604	hsa-miR-944	CLIP-seq
MIRT801605	hsa-miR-1264	CLIP-seq
MIRT801606	hsa-miR-3692	CLIP-seq
MIRT801587	hsa-miR-3920	CLIP-seq
MIRT2176490	hsa-miR-1278	CLIP-seq
MIRT2176491	hsa-miR-3120-3p	CLIP-seq
MIRT2176492	hsa-miR-421	CLIP-seq
MIRT2176493	hsa-miR-4709-5p	CLIP-seq
MIRT2176494	hsa-miR-505	CLIP-seq
MIRT2176495	hsa-miR-545	CLIP-seq
MIRT2176496	hsa-miR-579	CLIP-seq
MIRT2176497	hsa-miR-616	CLIP-seq
MIRT801602	hsa-miR-656	CLIP-seq
MIRT801588	hsa-miR-4257	CLIP-seq
MIRT801590	hsa-miR-4330	CLIP-seq
MIRT2479750	hsa-miR-128	CLIP-seq
MIRT2479751	hsa-miR-1287	CLIP-seq
MIRT2479752	hsa-miR-1323	CLIP-seq
MIRT2479753	hsa-miR-134	CLIP-seq
MIRT2479754	hsa-miR-136	CLIP-seq
MIRT2479755	hsa-miR-145	CLIP-seq
MIRT2479756	hsa-miR-1825	CLIP-seq
MIRT801583	hsa-miR-186	CLIP-seq
MIRT2479757	hsa-miR-197	CLIP-seq
MIRT2479758	hsa-miR-199a-5p	CLIP-seq
MIRT2479759	hsa-miR-199b-5p	CLIP-seq
MIRT2479760	hsa-miR-27a	CLIP-seq
MIRT2479761	hsa-miR-27b	CLIP-seq
MIRT2479762	hsa-miR-300	CLIP-seq
MIRT2479763	hsa-miR-3118	CLIP-seq
MIRT2479764	hsa-miR-3124-3p	CLIP-seq
MIRT801584	hsa-miR-3133	CLIP-seq
MIRT2479765	hsa-miR-3135b	CLIP-seq
MIRT2479766	hsa-miR-3138	CLIP-seq
MIRT2479767	hsa-miR-3148	CLIP-seq
MIRT2479768	hsa-miR-3156-5p	CLIP-seq
MIRT2479769	hsa-miR-3168	CLIP-seq
MIRT2479770	hsa-miR-3180-5p	CLIP-seq
MIRT2479771	hsa-miR-3607-3p	CLIP-seq
MIRT2479772	hsa-miR-3609	CLIP-seq
MIRT2479773	hsa-miR-3616-5p	CLIP-seq
MIRT2479774	hsa-miR-3646	CLIP-seq
MIRT2479775	hsa-miR-3647-5p	CLIP-seq
MIRT2479776	hsa-miR-3659	CLIP-seq
MIRT2479777	hsa-miR-3662	CLIP-seq
MIRT801586	hsa-miR-3682-5p	CLIP-seq
MIRT2479778	hsa-miR-3686	CLIP-seq
MIRT2479779	hsa-miR-3689d	CLIP-seq
MIRT2479780	hsa-miR-377	CLIP-seq
MIRT2479781	hsa-miR-381	CLIP-seq
MIRT2479782	hsa-miR-3973	CLIP-seq
MIRT2176492	hsa-miR-421	CLIP-seq
MIRT2479783	hsa-miR-4272	CLIP-seq
MIRT2479784	hsa-miR-4276	CLIP-seq
MIRT2479785	hsa-miR-4278	CLIP-seq
MIRT2479786	hsa-miR-431	CLIP-seq
MIRT2479787	hsa-miR-4320	CLIP-seq
MIRT2479788	hsa-miR-4452	CLIP-seq
MIRT2479789	hsa-miR-4461	CLIP-seq
MIRT801592	hsa-miR-452	CLIP-seq
MIRT2479790	hsa-miR-4653-3p	CLIP-seq
MIRT2479791	hsa-miR-4658	CLIP-seq
MIRT2479792	hsa-miR-4666-3p	CLIP-seq
MIRT2479793	hsa-miR-4668-5p	CLIP-seq
MIRT2479794	hsa-miR-4670-3p	CLIP-seq
MIRT801594	hsa-miR-4676-3p	CLIP-seq
MIRT2479795	hsa-miR-4679	CLIP-seq
MIRT2479796	hsa-miR-4698	CLIP-seq
MIRT2176493	hsa-miR-4709-5p	CLIP-seq
MIRT2479797	hsa-miR-4716-3p	CLIP-seq
MIRT2479798	hsa-miR-4719	CLIP-seq
MIRT2479799	hsa-miR-4729	CLIP-seq
MIRT801596	hsa-miR-4744	CLIP-seq
MIRT2479800	hsa-miR-4757-3p	CLIP-seq
MIRT2479801	hsa-miR-4758-5p	CLIP-seq
MIRT2479802	hsa-miR-4777-5p	CLIP-seq
MIRT801598	hsa-miR-4789-5p	CLIP-seq
MIRT2479803	hsa-miR-4795-5p	CLIP-seq
MIRT2479804	hsa-miR-493	CLIP-seq
MIRT2479805	hsa-miR-494	CLIP-seq
MIRT2176494	hsa-miR-505	CLIP-seq
MIRT2479806	hsa-miR-513a-5p	CLIP-seq
MIRT2479807	hsa-miR-518d-5p	CLIP-seq
MIRT2479808	hsa-miR-519b-5p	CLIP-seq
MIRT2479809	hsa-miR-519c-5p	CLIP-seq
MIRT2479810	hsa-miR-520c-5p	CLIP-seq
MIRT2479811	hsa-miR-520g	CLIP-seq
MIRT2479812	hsa-miR-520h	CLIP-seq
MIRT2479813	hsa-miR-526a	CLIP-seq
MIRT2479814	hsa-miR-548ah	CLIP-seq
MIRT2479815	hsa-miR-548o	CLIP-seq
MIRT2479816	hsa-miR-553	CLIP-seq
MIRT2479817	hsa-miR-573	CLIP-seq
MIRT2479818	hsa-miR-574-5p	CLIP-seq
MIRT2176496	hsa-miR-579	CLIP-seq
MIRT2176497	hsa-miR-616	CLIP-seq
MIRT2479819	hsa-miR-625	CLIP-seq
MIRT2479820	hsa-miR-873	CLIP-seq
MIRT801603	hsa-miR-943	CLIP-seq
MIRT2479750	hsa-miR-128	CLIP-seq
MIRT2479751	hsa-miR-1287	CLIP-seq
MIRT2479752	hsa-miR-1323	CLIP-seq
MIRT2479753	hsa-miR-134	CLIP-seq
MIRT2479754	hsa-miR-136	CLIP-seq
MIRT2479755	hsa-miR-145	CLIP-seq
MIRT2479756	hsa-miR-1825	CLIP-seq
MIRT801583	hsa-miR-186	CLIP-seq
MIRT2479757	hsa-miR-197	CLIP-seq
MIRT2479758	hsa-miR-199a-5p	CLIP-seq
MIRT2479759	hsa-miR-199b-5p	CLIP-seq
MIRT2479760	hsa-miR-27a	CLIP-seq
MIRT2479761	hsa-miR-27b	CLIP-seq
MIRT2479762	hsa-miR-300	CLIP-seq
MIRT2479763	hsa-miR-3118	CLIP-seq
MIRT2479764	hsa-miR-3124-3p	CLIP-seq
MIRT801584	hsa-miR-3133	CLIP-seq
MIRT2479765	hsa-miR-3135b	CLIP-seq
MIRT2479766	hsa-miR-3138	CLIP-seq
MIRT2479767	hsa-miR-3148	CLIP-seq
MIRT2479768	hsa-miR-3156-5p	CLIP-seq
MIRT2479770	hsa-miR-3180-5p	CLIP-seq
MIRT2479771	hsa-miR-3607-3p	CLIP-seq
MIRT2479772	hsa-miR-3609	CLIP-seq
MIRT2479773	hsa-miR-3616-5p	CLIP-seq
MIRT2479774	hsa-miR-3646	CLIP-seq
MIRT2479775	hsa-miR-3647-5p	CLIP-seq
MIRT2479776	hsa-miR-3659	CLIP-seq
MIRT2479777	hsa-miR-3662	CLIP-seq
MIRT801586	hsa-miR-3682-5p	CLIP-seq
MIRT2479778	hsa-miR-3686	CLIP-seq
MIRT2479779	hsa-miR-3689d	CLIP-seq
MIRT2479780	hsa-miR-377	CLIP-seq
MIRT2479781	hsa-miR-381	CLIP-seq
MIRT2479782	hsa-miR-3973	CLIP-seq
MIRT2176492	hsa-miR-421	CLIP-seq
MIRT2479783	hsa-miR-4272	CLIP-seq
MIRT2479784	hsa-miR-4276	CLIP-seq
MIRT2479785	hsa-miR-4278	CLIP-seq
MIRT2479786	hsa-miR-431	CLIP-seq
MIRT2479787	hsa-miR-4320	CLIP-seq
MIRT2479788	hsa-miR-4452	CLIP-seq
MIRT2479789	hsa-miR-4461	CLIP-seq
MIRT801592	hsa-miR-452	CLIP-seq
MIRT2479790	hsa-miR-4653-3p	CLIP-seq
MIRT2479791	hsa-miR-4658	CLIP-seq
MIRT2479792	hsa-miR-4666-3p	CLIP-seq
MIRT2479793	hsa-miR-4668-5p	CLIP-seq
MIRT2479794	hsa-miR-4670-3p	CLIP-seq
MIRT801594	hsa-miR-4676-3p	CLIP-seq
MIRT2479795	hsa-miR-4679	CLIP-seq
MIRT2479796	hsa-miR-4698	CLIP-seq
MIRT2479797	hsa-miR-4716-3p	CLIP-seq
MIRT2479798	hsa-miR-4719	CLIP-seq
MIRT2479799	hsa-miR-4729	CLIP-seq
MIRT801596	hsa-miR-4744	CLIP-seq
MIRT2479800	hsa-miR-4757-3p	CLIP-seq
MIRT2479801	hsa-miR-4758-5p	CLIP-seq
MIRT2479802	hsa-miR-4777-5p	CLIP-seq
MIRT801598	hsa-miR-4789-5p	CLIP-seq
MIRT2479803	hsa-miR-4795-5p	CLIP-seq
MIRT2479804	hsa-miR-493	CLIP-seq
MIRT2479805	hsa-miR-494	CLIP-seq
MIRT2176494	hsa-miR-505	CLIP-seq
MIRT2479806	hsa-miR-513a-5p	CLIP-seq
MIRT2479807	hsa-miR-518d-5p	CLIP-seq
MIRT2479808	hsa-miR-519b-5p	CLIP-seq
MIRT2479809	hsa-miR-519c-5p	CLIP-seq
MIRT2479810	hsa-miR-520c-5p	CLIP-seq
MIRT2479811	hsa-miR-520g	CLIP-seq
MIRT2479812	hsa-miR-520h	CLIP-seq
MIRT2479813	hsa-miR-526a	CLIP-seq
MIRT2479814	hsa-miR-548ah	CLIP-seq
MIRT2479815	hsa-miR-548o	CLIP-seq
MIRT2479816	hsa-miR-553	CLIP-seq
MIRT2479817	hsa-miR-573	CLIP-seq
MIRT2479818	hsa-miR-574-5p	CLIP-seq
MIRT2176496	hsa-miR-579	CLIP-seq
MIRT2176497	hsa-miR-616	CLIP-seq
MIRT2479819	hsa-miR-625	CLIP-seq
MIRT2479820	hsa-miR-873	CLIP-seq
MIRT801603	hsa-miR-943	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF6	Unknown	16500425

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	7744740, 11451951, 25645918
GO:0005634	Component	Nucleus	IEA
GO:0005764	Component	Lysosome	IDA	12764132
GO:0005769	Component	Early endosome	IDA	12764132
GO:0005783	Component	Endoplasmic reticulum	IDA	12764132
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0016810	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IBA	21873635
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IDA	15655246
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IBA	21873635
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IDA	7744740, 11451951, 12764132, 12815059
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IMP	10610716
GO:0017064	Function	Fatty acid amide hydrolase activity	IEA
GO:0030216	Process	Keratinocyte differentiation	IMP	17713573
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0046512	Process	Sphingosine biosynthetic process	IDA	12815059
GO:0046512	Process	Sphingosine biosynthetic process	IMP	10610716
GO:0046513	Process	Ceramide biosynthetic process	IDA	12764132, 12815059
GO:0046514	Process	Ceramide catabolic process	IDA	12815059
GO:0046514	Process	Ceramide catabolic process	IMP	10610716
GO:0050810	Process	Regulation of steroid biosynthetic process	IMP	22261821
GO:0062098	Process	Regulation of programmed necrotic cell death	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:0102121	Function	Ceramidase activity	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 613468
• HGNC: 735
• e!Ensembl: ENSG00000104763

Protein

• UniProt ID: Q13510
• Protein name: Acid ceramidase (AC) (ACDase) (Acid CDase) (EC 3.5.1.23) (Acylsphingosine deacylase) (Glycosylceramide deacylase) (EC 3.5.1.109) (N-acylethanolamine hydrolase ASAH1) (EC 3.5.1.-) (N-acylsphingosine amidohydrolase) (Putative 32 kDa heart protein) (PHP32) [
• Protein function: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:11451951, PubMed:15655246, PubMed:26898341, PubMed:36752535, PubMed:7744740, PubMed:7852294). Ceramides, sphi
• PDB: 5U7Z, 6MHM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15508	NAAA-beta	45 → 108	beta subunit of N-acylethanolamine-hydrolyzing acid amidase	Family
  PF02275	CBAH	143 → 388	Linear amide C-N hydrolases, choloylglycine hydrolase family	Domain

• Sequence:

  MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYK
  RWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIA
  AVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITE
  QLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWI
  LGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKE
  SLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLST
  KPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW

• Sequence length: 395

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
Lysosome

Reactome:

Glycosphingolipid metabolism
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015, 30061737, 28416818
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
Epilepsy	Epilepsy, Generalized, Epilepsy, Rolandic	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29358611
Farber disease	Farber Lipogranulomatosis, Farber disease	rs137853593, rs137853594, rs137853595, rs137853596, rs137853597, rs397509415, rs756455049, rs1411267767, rs1554808625, rs543697946, rs746513660, rs1588973202, rs1588973237, rs1588973247, rs1588974267, rs895669204, rs1588977010, rs1564537266, rs377749094, rs1588978706, rs762756953, rs1421841663, rs1588982399, rs1281024431, rs1588982421, rs1588986195, rs1588989947, rs1588989964, rs1336696568, rs771718522, rs1588999402, rs763842677, rs1588974593, rs1588977181, rs767864356, rs761372687	24164096, 26945816, 10610716, 16951918, 20609603, 15331184, 8955159, 23707712, 21893389, 12638942, 24355074, 21982811, 11241842, 27411168, 10993717, 22703880
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
Hydrops fetalis	Hydrops Fetalis, Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986	24164096, 8650144
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	24164096
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Schizophrenia	Schizophrenia, Chronic schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, 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	21375364
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962
Spinal muscular atrophy-myoclonic epilepsy syndrome	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	rs145873635, rs794729663, rs200455852, rs371666412, rs1588999312, rs1588973202, rs543697946, rs771847002, rs1588990194, rs766395283, rs886039750

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral cortex myoclonus	Cerebral cortex myoclonus
Dementia	Dementia
Distal muscular atrophy	Progressive distal muscular atrophy
Dwarfism	Dwarfism
Erdheim-chester disease	Erdheim-Chester Disease
Facial paralysis	Facial paralysis
Jankovic rivera syndrome	Jankovic Rivera syndrome		22703880, 27723502, 24164096, 27026573
Laryngomalacia	Laryngomalacia
Lipogranuloma	Lipogranuloma
Lipoidosis	Lipoidosis		16919414, 15342952
Motor delay	Clumsiness - motor delay
Myoclonic seizures	Generalized myoclonic seizures
Oropharyngeal dysphagia	Oropharyngeal Dysphagia
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	30061737, 29892015
Speech disorders	Speech Disorders