ASAH1 (N-acylsphingosine amidohydrolase 1)

Gene

• Entrez ID: 427
• Gene name: N-acylsphingosine amidohydrolase 1
• Gene symbol: ASAH1
• Synonyms (NCBI Gene): 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: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

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

• 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

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
Lysosome

Reactome:

Glycosphingolipid metabolism
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs543697946	RCV001814223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2117078394	RCV001814525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASAH1-related disorders	Pathogenic; Likely pathogenic	rs2117018589, rs769683272, rs754659903, rs200455852, rs371666412, rs145873635, rs369707059, rs1281024431	RCV004728813 RCV004738381 RCV004738479 RCV004551355 RCV004551416 RCV001270895 RCV004737997 RCV004553550	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber lipogranulomatosis	Likely pathogenic; Pathogenic	rs966267709, rs2117037405, rs2117047219, rs769683272, rs137853593, rs137853594, rs137853595, rs137853596, rs137853597, rs1588999386, rs2537974775, rs756455049, rs766395283, rs2537913471, rs886062781, rs2537917798, rs1564540455, rs2537947781, rs371666412, rs1411267767, rs1554808625, rs543697946, rs397509415, rs746513660, rs1588973202, rs1588973237, rs1588973247, rs1588974267, rs895669204, rs1588977010, rs1564537266, rs377749094, rs1588978684, rs1588978706, rs762756953, rs1588978873, rs1421841663, rs1588982399, rs1281024431, rs1588982421, rs1588986195, rs1588989947, rs1588989964, rs1336696568, rs771718522, rs1588999402, rs763842677, rs1588974593, rs1588977181, rs767864356, rs761372687	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs200455852, rs747457090	RCV005888559 RCV005909038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	RCV002506589 RCV002482308 RCV002289101 RCV000157604 RCV000157605 RCV005356348 RCV005869958 RCV000416939 RCV000029199 RCV001003311 RCV004798880 RCV004796343 RCV001003338 RCV001003310 RCV001003309 RCV001003330 RCV001003298 RCV001003312	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uveal melanoma	Likely pathogenic	rs771628836	RCV005925599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ASAH1-related sphingolipidosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FARBER DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keloid formation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27825124		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29692406	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30988134		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10328219		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	27650050		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	38297226	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416818, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	29545482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	20837711		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	24945424		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28445970		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19905902, 21493710, 26188095, 29023248, 29312567, 29320752		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21493710, 25131496	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	BEFREE	31573097		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23423838, 28443473, 32135040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	25131496	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22515519, 30988134		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28443473	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28445970		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	21375364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic schizophrenia	Schizophrenia	PSYGENET_DG	21375364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29259036		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29920241		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28445970		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33334013, 37758931	Associate	★☆☆☆☆ Found in Text Mining only
Combined Saposin Deficiency	Combined Saposin Deficiency	BEFREE	9204210		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32111095	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	16995592, 21274302		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37298446	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29613852, 30977990		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30977990	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32144130	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29692406	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11450852		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	37962265	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	23590301	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35992117	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	26971296		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	27026573, 29692406	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24164096		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33798445	Associate	★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	15289350		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Farber disease	Farber Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Farber Lipogranulomatosis	Farber disease	BEFREE	10365663, 10993717, 11241842, 12638942, 16951918, 18020949, 18805722, 20609603, 21893389, 21982811, 22703880, 23681708, 23707712, 24355074, 2504515, 25578555, 26945816, 27026573, 27411168, 27647482, 27650050, 28733637, 29167126, 29169047, 29379059, 30029679, 30399382, 30448190, 30472209, 30815900, 31186526, 31527255, 8955159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber Lipogranulomatosis	Farber disease	GENOMICS_ENGLAND_DG	10610716, 15331184, 22703880, 24164096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber Lipogranulomatosis	Farber disease	UNIPROT_DG	10610716, 10993717, 11241842, 12638942, 16951918, 20609603, 21893389, 21982811, 26945816, 27411168, 8955159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber Lipogranulomatosis	Farber disease	CLINVAR_DG	11241842, 23707712, 24164096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber Lipogranulomatosis	Farber disease	ORPHANET_DG	24355074		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Farber Lipogranulomatosis	Farber disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	10993717		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31022733		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28765947, 29348854, 29642535, 29899215, 30525581		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28765947, 35741006	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28765947, 29348854, 29642535, 29899215, 30525581		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	31527255		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17426710, 26687835		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	37298446	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	29545482	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	24164096		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	37962265	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	GENOMICS_ENGLAND_DG	8650144		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31647995		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	11450852, 29240265		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18245333		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18245333	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24164096		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	29320752		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	UNIPROT_DG	22703880, 24164096, 27026573		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	ORPHANET_DG	22703880		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	GENOMICS_ENGLAND_DG	22703880, 24164096, 27723502		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	CLINVAR_DG	22703880		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	BEFREE	24164096, 26526000, 29169047, 30029679, 30399382		★☆☆☆☆ Found in Text Mining only
Jankovic Rivera syndrome	Jankovic Rivera Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18477771	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30962310	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27825124, 28434262, 30962310, 31744877		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29579237		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	29579237	Associate	★☆☆☆☆ Found in Text Mining only
Lipogranuloma	Lipogranuloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	CTD_human_DG	15342952, 16919414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	32236130, 40159631	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17426710, 26687835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19905902, 21493710, 26188095, 29023248, 29312567, 29320752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22515519, 30988134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23263160		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10959093, 16887394, 19107118, 19874262, 22322590, 23423838, 24091326, 24098536, 25888580		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17981711, 19107118, 19874262, 21277018, 23263160, 23777806, 28434262, 28614356, 28785021, 29259036, 29348854, 29518574, 29920241, 30661200, 30827244, 31092365		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29920241		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29023248		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12675527, 28603987, 30254208, 30525581		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21700700, 28785021, 30254208, 33806766, 34045496	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18245333		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	21700700		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23423838		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	27026573		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	26526000		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37016912	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	25847462, 27026573, 28251733, 29692406, 32111095	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	22703880, 25578555, 25847462, 26526000, 27026573, 27650050		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	27026573		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	20837711		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16862171, 17426710, 19874262, 19905902, 21277018, 23423838, 24091326, 24098536, 24951586, 29259036, 30525581, 30827244, 31650973		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33656802	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21784346, 28882452		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24945424		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19905902		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23263160		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28847804, 29140481, 29579237		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29140481, 29579237, 36752535	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Progressive distal muscular atrophy	Distal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10959093, 16887394, 19107118, 19874262, 22322590, 23423838, 24091326, 24098536, 25888580		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17881906		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21116286, 22322590, 23423838, 30988134	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	10852457, 11443172, 11450852, 16995592, 2121768, 24945424, 657576		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	BEFREE	12858292		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	11450852, 15070926, 18250541, 20965295, 21488135, 24423294, 29693731		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	11033761		★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	11443172, 2121768		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29518574		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26945816		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18683247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	21375364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21375364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27026573	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22703880, 25578555, 25847462, 27026573, 27650050		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Spinal Muscular Atrophy-Myoclonic Epilepsy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37016912	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10328219		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10328219		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	657576		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	22703880, 25578555, 25847462, 26526000, 27026573, 27650050		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	25847462	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	30581889		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	28443473	Stimulate	★☆☆☆☆ Found in Text Mining only