Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	427
Gene name	N-acylsphingosine amidohydrolase 1
Gene symbol	ASAH1
Synonyms (NCBI Gene)	ACACDaseASAHPHPPHP32SMAPME
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

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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

206

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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

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Transcription factor	Regulation	Reference
KLF6	Unknown	16500425

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003714	Function	Transcription corepressor activity	IMP	22927646
GO:0005515	Function	Protein binding	IPI	22927646, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	7744740, 11451951, 25645918
GO:0005634	Component	Nucleus	IDA	22927646
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	12764132
GO:0005764	Component	Lysosome	IEA
GO:0005769	Component	Early endosome	IDA	12764132
GO:0005783	Component	Endoplasmic reticulum	IDA	12764132
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IDA	15655246
GO:0016922	Function	Nuclear receptor binding	IPI	22927646
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IBA
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IDA	7744740, 11451951, 12764132, 12815059
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IEA
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:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IDA	12815059
GO:0046512	Process	Sphingosine biosynthetic process	IEA
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	IEA
GO:0046514	Process	Ceramide catabolic process	IMP	10610716
GO:0050810	Process	Regulation of steroid biosynthetic process	IMP	22261821, 22927646
GO:0062098	Process	Regulation of programmed necrotic cell death	IEA
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	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
613468	735	ENSG00000104763

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

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed with higher expression in heart. {ECO:0000269|PubMed:10610716}.

Sequence

MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYK
RWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIA
AVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITE
QLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWI
LGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKE
SLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLST
KPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW

Sequence length

395

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway Lysosome		Glycosphingolipid metabolism Neutrophil degranulation

343

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs543697946	RCV001814223
Abnormality of the nervous system	Likely pathogenic	rs2117078394	RCV001814525
ASAH1-related disorders	Pathogenic; Likely pathogenic	rs2117018589, rs769683272, rs754659903, rs200455852, rs371666412, rs145873635, rs369707059, rs1281024431	RCV004728813 RCV004738381 RCV004738479 RCV004551355 RCV004551416 RCV001270895 RCV004737997 RCV004553550
Farber lipogranulomatosis	Likely pathogenic; Pathogenic	rs966267709, rs2117037405, rs2117047219, rs769683272, rs137853593, rs137853594, rs137853595, rs137853596, rs137853597, rs1588999386, rs2537974775, rs756455049, rs766395283, rs2537913471, rs886062781 View all (36 more)	RCV002506589 RCV001728066 RCV001728067 RCV002482308 RCV000000111 RCV000000112 RCV000000113 RCV000000114 RCV000000115 RCV002250396 RCV002272649 RCV002465012 RCV001728167 RCV005356348 RCV004784169 RCV003991146 RCV003993529 RCV003993554 RCV004545947 RCV002502451 RCV000614436 RCV000656521 RCV001003303 RCV000049322 RCV001003321 RCV001003308 RCV001003328 RCV001003318 RCV001003320 RCV001003324 RCV001003323 RCV001003322 RCV001003307 RCV001003317 RCV001003310 RCV001003304 RCV001003313 RCV001003309 RCV001003306 RCV001003326 RCV001003299 RCV001003302 RCV001003333 RCV001003329 RCV001003300 RCV001003301 RCV001003332 RCV001003316 RCV001003319 RCV001003337 RCV001003336 RCV001003334 RCV001003331 RCV001003314
Ovarian serous cystadenocarcinoma	Pathogenic	rs200455852, rs747457090	RCV005888559 RCV005909038
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Likely pathogenic; Pathogenic	rs966267709, rs769683272, rs769587137, rs794729663, rs200455852, rs766395283, rs149658988, rs371666412, rs145873635, rs1588999312, rs1588973202, rs543697946, rs771847002, rs1588978684, rs1588978873, rs1588990194, rs886039750 View all (2 more)	RCV002506589 RCV002482308 RCV002289101 RCV000157604 RCV000157605 RCV005356348 RCV005869958 RCV000416939 RCV000029199 RCV001003311 RCV004798880 RCV004796343 RCV001003338 RCV001003310 RCV001003309 RCV001003330 RCV001003298 RCV001003312
Uveal melanoma	Likely pathogenic	rs771628836	RCV005925599

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs112928371, rs73581678	RCV005915688 RCV005921603
Adrenocortical carcinoma, hereditary	Benign	rs35513736	RCV005892714
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs1588980220, rs200758704	RCV000855490 RCV000855489
ASAH1-related sphingolipidosis	Conflicting classifications of pathogenicity	rs147896487	RCV005356006
Cervical cancer	Likely benign; Benign	rs7016742, rs112928371, rs73581678	RCV005917648 RCV005915690 RCV005921605
Cholangiocarcinoma	Benign	rs73581678, rs35513736	RCV005921609 RCV005892721
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs35513736, rs574114	RCV005892722 RCV005899358
Colorectal cancer	Benign	rs35513736	RCV005892718
Familial cancer of breast	Uncertain significance	rs1356384937	RCV005930307
Familial pancreatic carcinoma	Benign	rs35513736	RCV005892717
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	rs1588980220, rs200758704	RCV000855490 RCV000855489
Hepatocellular carcinoma	Benign	rs6586683, rs35513736, rs574114, rs4921567	RCV005916228 RCV005892712 RCV005899354 RCV005905480
Keloid formation	Uncertain significance	rs368345612	RCV000515786
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs7016742, rs73581678, rs141785977	RCV005917649 RCV005921610 RCV005908904
Lymphoma	Benign	rs35513736	RCV005892719
Malignant tumor of esophagus	Benign	rs112928371, rs73581678	RCV005915689 RCV005921604
Nonpapillary renal cell carcinoma	Likely benign; Benign	rs2537925042, rs35513736, rs574114	RCV005870026 RCV005892713 RCV005899355
Ovarian cancer	Benign; Likely benign	rs35513736, rs574114, rs376826383	RCV005892715 RCV005899356 RCV005907223
Sarcoma	Benign	rs73581678	RCV005921606
See cases	Uncertain significance	rs200767975	RCV002252291
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	rs141068211, rs150268016, rs147896487	RCV000656011 RCV000656012 RCV000656013
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs781103974	RCV005924063
Uterine carcinosarcoma	Benign	rs73581678, rs35513736	RCV005921608 RCV005892720
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs7016742, rs112928371, rs73581678, rs574114, rs376826383	RCV005917650 RCV005915692 RCV005921611 RCV005899357 RCV005907224
Variant of unknown significance	Uncertain significance	rs368345612	RCV002280815

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32236130
Alzheimer Disease	Associate	29692406
Asthma	Associate	38297226
Atrial Fibrillation	Associate	29545482
Breast Neoplasms	Associate	21493710, 25131496
Carcinogenesis	Associate	23423838, 28443473, 32135040
Carcinoma Intraductal Noninfiltrating	Associate	25131496
Carcinoma Non Small Cell Lung	Associate	25131496
Carcinoma Squamous Cell	Stimulate	28443473
Colorectal Neoplasms	Associate	33334013, 37758931
Congenital Abnormalities	Associate	32111095
Coronary Artery Disease	Associate	37298446
COVID 19	Associate	36010608
Cystic Fibrosis	Associate	30977990
Death	Associate	27026573
Diabetes Gestational	Associate	32144130
Diabetes Mellitus	Associate	29692406
Edema	Associate	37962265
Emphysema	Associate	23590301
Endometriosis	Associate	35992117
Epilepsies Myoclonic	Associate	27026573, 29692406
Epileptic Encephalopathy Early Infantile 3	Associate	33798445
Farber Lipogranulomatosis	Associate	22565078, 27026573, 28733637, 29692406, 30448190, 31789304, 32111095, 34045195, 34088014, 37962265, 8955159
Fetal akinesia syndrome X linked	Associate	31680123
Glioblastoma	Associate	28765947, 35741006
Heart Valve Diseases	Associate	37298446
Heterotaxy Syndrome	Associate	29545482
Hydrops Fetalis	Associate	37962265
Inflammation	Associate	28905881, 29278706
Intellectual Disability	Associate	18245333
Keloid	Associate	28905881
Leukemia	Associate	18477771
Leukemia Myeloid Acute	Associate	30962310
Leukodystrophy Globoid Cell	Associate	36113749
Lewy Body Disease	Associate	29579237
Lung Neoplasms	Associate	32236130, 40159631
Lysosomal Storage Diseases	Associate	32111095, 33656802
Melanoma	Associate	21700700, 28785021, 30254208, 33806766, 34045496
Mouth Neoplasms	Associate	37016912
Muscular Atrophy Spinal	Associate	25847462, 27026573, 28251733, 29692406, 32111095
Myoclonic Epilepsies Progressive	Associate	25847462, 27026573, 28251733, 32111095, 37962265
Neoplasm Metastasis	Stimulate	23423838
Neoplasms	Associate	21700700, 21846728, 23777806, 28785021, 28905881, 29692406, 30448190, 35624221, 37882631
Neoplasms	Stimulate	25131496, 32236130
Neurodegenerative Diseases	Associate	33656802
Parkinson Disease	Associate	29140481, 29579237, 36752535
Pneumonia	Inhibit	30977990
Prostatic Neoplasms	Associate	21116286, 22322590, 23423838, 30988134
Prostatitis	Associate	22322590
Rectal Neoplasms	Associate	33334013
Respiratory Distress Syndrome	Associate	31789304
Schizophrenia	Associate	18683247
Seizures	Associate	27026573
Sialic Acid Storage Disease	Associate	22565078
Squamous Cell Carcinoma of Head and Neck	Associate	37016912
Synucleinopathies	Associate	29579237, 36752535
Unverricht Lundborg Syndrome	Associate	32111095
Urinary Bladder Neurogenic	Associate	25847462
Uterine Cervical Dysplasia	Stimulate	28443473

ASAH1 (N-acylsphingosine amidohydrolase 1)