NAT8L (N-acetyltransferase 8 like)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 339983
• Gene name: N-acetyltransferase 8 like
• Gene symbol: NAT8L
• Synonyms (NCBI Gene): CML3, NACED, NAT8-LIKE
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777212	GGCCGCCGGGGGGGCGCGG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA Show/Hide all (284)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051308	hsa-miR-16-5p	CLASH	23622248
MIRT050986	hsa-miR-17-5p	CLASH	23622248
MIRT041507	hsa-miR-193b-3p	CLASH	23622248
MIRT040445	hsa-miR-615-3p	CLASH	23622248
MIRT036028	hsa-miR-1301-3p	CLASH	23622248
MIRT309844	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT309843	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT309845	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT309842	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT309847	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT309849	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT309850	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT309857	hsa-miR-4458	PAR-CLIP	21572407
MIRT309858	hsa-miR-4500	PAR-CLIP	21572407
MIRT309848	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT309846	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT547356	hsa-miR-499a-3p	PAR-CLIP	21572407
MIRT547355	hsa-miR-499b-3p	PAR-CLIP	21572407
MIRT547354	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT309856	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT309861	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT309862	hsa-miR-6847-5p	PAR-CLIP	21572407
MIRT309855	hsa-miR-4257	PAR-CLIP	21572407
MIRT309854	hsa-miR-3185	PAR-CLIP	21572407
MIRT309860	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT309859	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT309844	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT309843	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT309845	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT309842	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT309847	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT309849	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT309850	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT309857	hsa-miR-4458	PAR-CLIP	21572407
MIRT309858	hsa-miR-4500	PAR-CLIP	21572407
MIRT309848	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT309846	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT547356	hsa-miR-499a-3p	PAR-CLIP	21572407
MIRT547355	hsa-miR-499b-3p	PAR-CLIP	21572407
MIRT547354	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT309856	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT309861	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT309862	hsa-miR-6847-5p	PAR-CLIP	21572407
MIRT309855	hsa-miR-4257	PAR-CLIP	21572407
MIRT309854	hsa-miR-3185	PAR-CLIP	21572407
MIRT309860	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT309859	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT755946	hsa-miR-31-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunofluorescence	35920180
MIRT1174494	hsa-let-7a	CLIP-seq
MIRT1174495	hsa-let-7b	CLIP-seq
MIRT1174496	hsa-let-7c	CLIP-seq
MIRT1174497	hsa-let-7d	CLIP-seq
MIRT1174498	hsa-let-7e	CLIP-seq
MIRT1174499	hsa-let-7f	CLIP-seq
MIRT1174500	hsa-let-7g	CLIP-seq
MIRT1174501	hsa-let-7i	CLIP-seq
MIRT1174502	hsa-miR-103a	CLIP-seq
MIRT1174503	hsa-miR-107	CLIP-seq
MIRT1174504	hsa-miR-1207-5p	CLIP-seq
MIRT1174505	hsa-miR-129-3p	CLIP-seq
MIRT1174506	hsa-miR-15a	CLIP-seq
MIRT1174507	hsa-miR-15b	CLIP-seq
MIRT1174508	hsa-miR-16	CLIP-seq
MIRT1174509	hsa-miR-1827	CLIP-seq
MIRT1174510	hsa-miR-185	CLIP-seq
MIRT1174511	hsa-miR-195	CLIP-seq
MIRT1174512	hsa-miR-214	CLIP-seq
MIRT1174513	hsa-miR-2277-3p	CLIP-seq
MIRT1174514	hsa-miR-3144-5p	CLIP-seq
MIRT1174515	hsa-miR-3157-5p	CLIP-seq
MIRT1174516	hsa-miR-328	CLIP-seq
MIRT1174517	hsa-miR-3619-5p	CLIP-seq
MIRT1174518	hsa-miR-371-5p	CLIP-seq
MIRT1174519	hsa-miR-3918	CLIP-seq
MIRT1174520	hsa-miR-3927	CLIP-seq
MIRT1174521	hsa-miR-424	CLIP-seq
MIRT1174522	hsa-miR-4306	CLIP-seq
MIRT1174523	hsa-miR-4310	CLIP-seq
MIRT1174524	hsa-miR-4428	CLIP-seq
MIRT1174525	hsa-miR-4435	CLIP-seq
MIRT1174526	hsa-miR-4459	CLIP-seq
MIRT1174527	hsa-miR-4481	CLIP-seq
MIRT1174528	hsa-miR-4494	CLIP-seq
MIRT1174529	hsa-miR-4499	CLIP-seq
MIRT1174530	hsa-miR-4513	CLIP-seq
MIRT1174531	hsa-miR-4640-5p	CLIP-seq
MIRT1174532	hsa-miR-4643	CLIP-seq
MIRT1174533	hsa-miR-4644	CLIP-seq
MIRT1174534	hsa-miR-4658	CLIP-seq
MIRT1174535	hsa-miR-4666-5p	CLIP-seq
MIRT1174536	hsa-miR-4691-3p	CLIP-seq
MIRT1174537	hsa-miR-4706	CLIP-seq
MIRT1174538	hsa-miR-4722-5p	CLIP-seq
MIRT1174539	hsa-miR-4726-5p	CLIP-seq
MIRT1174540	hsa-miR-4736	CLIP-seq
MIRT1174541	hsa-miR-4745-5p	CLIP-seq
MIRT1174542	hsa-miR-4749-5p	CLIP-seq
MIRT1174543	hsa-miR-4758-5p	CLIP-seq
MIRT1174544	hsa-miR-4763-3p	CLIP-seq
MIRT1174545	hsa-miR-4779	CLIP-seq
MIRT1174546	hsa-miR-4781-5p	CLIP-seq
MIRT1174547	hsa-miR-4786-5p	CLIP-seq
MIRT1174548	hsa-miR-497	CLIP-seq
MIRT1174549	hsa-miR-499-3p	CLIP-seq
MIRT1174550	hsa-miR-541	CLIP-seq
MIRT1174551	hsa-miR-542-3p	CLIP-seq
MIRT1174552	hsa-miR-574-3p	CLIP-seq
MIRT1174553	hsa-miR-654-5p	CLIP-seq
MIRT1174554	hsa-miR-665	CLIP-seq
MIRT1174555	hsa-miR-759	CLIP-seq
MIRT1174556	hsa-miR-761	CLIP-seq
MIRT1174557	hsa-miR-940	CLIP-seq
MIRT1174558	hsa-miR-98	CLIP-seq
MIRT1551576	hsa-miR-1908	CLIP-seq
MIRT1551577	hsa-miR-3943	CLIP-seq
MIRT1551578	hsa-miR-4313	CLIP-seq
MIRT1551579	hsa-miR-663	CLIP-seq
MIRT1551580	hsa-miR-744	CLIP-seq
MIRT2050453	hsa-miR-1178	CLIP-seq
MIRT2050454	hsa-miR-1207-3p	CLIP-seq
MIRT2050455	hsa-miR-1227	CLIP-seq
MIRT1174505	hsa-miR-129-3p	CLIP-seq
MIRT2050456	hsa-miR-1470	CLIP-seq
MIRT1551576	hsa-miR-1908	CLIP-seq
MIRT2050457	hsa-miR-1913	CLIP-seq
MIRT2050458	hsa-miR-3127-5p	CLIP-seq
MIRT2050459	hsa-miR-3173-5p	CLIP-seq
MIRT2050460	hsa-miR-324-3p	CLIP-seq
MIRT1174516	hsa-miR-328	CLIP-seq
MIRT2050461	hsa-miR-329	CLIP-seq
MIRT2050462	hsa-miR-34a	CLIP-seq
MIRT2050463	hsa-miR-34c-5p	CLIP-seq
MIRT2050464	hsa-miR-362-3p	CLIP-seq
MIRT2050465	hsa-miR-3714	CLIP-seq
MIRT1551577	hsa-miR-3943	CLIP-seq
MIRT1551578	hsa-miR-4313	CLIP-seq
MIRT1174528	hsa-miR-4494	CLIP-seq
MIRT1174529	hsa-miR-4499	CLIP-seq
MIRT2050466	hsa-miR-449a	CLIP-seq
MIRT2050467	hsa-miR-449b	CLIP-seq
MIRT1174530	hsa-miR-4513	CLIP-seq
MIRT1174532	hsa-miR-4643	CLIP-seq
MIRT2050468	hsa-miR-4667-3p	CLIP-seq
MIRT2050469	hsa-miR-4685-5p	CLIP-seq
MIRT2050470	hsa-miR-4707-5p	CLIP-seq
MIRT2050471	hsa-miR-4715-3p	CLIP-seq
MIRT2050472	hsa-miR-4731-5p	CLIP-seq
MIRT2050473	hsa-miR-4749-3p	CLIP-seq
MIRT1551579	hsa-miR-663	CLIP-seq
MIRT1551580	hsa-miR-744	CLIP-seq
MIRT2050474	hsa-miR-885-3p	CLIP-seq
MIRT2279605	hsa-miR-101	CLIP-seq
MIRT2050453	hsa-miR-1178	CLIP-seq
MIRT1174504	hsa-miR-1207-5p	CLIP-seq
MIRT2279606	hsa-miR-1228	CLIP-seq
MIRT2279607	hsa-miR-1254	CLIP-seq
MIRT2279608	hsa-miR-128	CLIP-seq
MIRT2279609	hsa-miR-1285	CLIP-seq
MIRT2279610	hsa-miR-1299	CLIP-seq
MIRT2050456	hsa-miR-1470	CLIP-seq
MIRT2279611	hsa-miR-148a	CLIP-seq
MIRT2279612	hsa-miR-148b	CLIP-seq
MIRT2279613	hsa-miR-152	CLIP-seq
MIRT1174506	hsa-miR-15a	CLIP-seq
MIRT1174507	hsa-miR-15b	CLIP-seq
MIRT1174508	hsa-miR-16	CLIP-seq
MIRT2050457	hsa-miR-1913	CLIP-seq
MIRT2279614	hsa-miR-1914	CLIP-seq
MIRT1174511	hsa-miR-195	CLIP-seq
MIRT1174512	hsa-miR-214	CLIP-seq
MIRT2279615	hsa-miR-22	CLIP-seq
MIRT2279616	hsa-miR-2467-3p	CLIP-seq
MIRT2279617	hsa-miR-27a	CLIP-seq
MIRT2279618	hsa-miR-27b	CLIP-seq
MIRT2279619	hsa-miR-3116	CLIP-seq
MIRT2279620	hsa-miR-3141	CLIP-seq
MIRT2279621	hsa-miR-3163	CLIP-seq
MIRT2279622	hsa-miR-3187-5p	CLIP-seq
MIRT2279623	hsa-miR-3194-5p	CLIP-seq
MIRT2050460	hsa-miR-324-3p	CLIP-seq
MIRT2050461	hsa-miR-329	CLIP-seq
MIRT2279624	hsa-miR-338-3p	CLIP-seq
MIRT2279625	hsa-miR-342-3p	CLIP-seq
MIRT2050462	hsa-miR-34a	CLIP-seq
MIRT2050463	hsa-miR-34c-5p	CLIP-seq
MIRT2279626	hsa-miR-361-3p	CLIP-seq
MIRT1174517	hsa-miR-3619-5p	CLIP-seq
MIRT2050464	hsa-miR-362-3p	CLIP-seq
MIRT2279627	hsa-miR-3678-3p	CLIP-seq
MIRT2279628	hsa-miR-377	CLIP-seq
MIRT2279629	hsa-miR-3941	CLIP-seq
MIRT2279630	hsa-miR-3944-5p	CLIP-seq
MIRT1174521	hsa-miR-424	CLIP-seq
MIRT2279631	hsa-miR-4282	CLIP-seq
MIRT2279632	hsa-miR-4284	CLIP-seq
MIRT2279633	hsa-miR-4291	CLIP-seq
MIRT2279634	hsa-miR-4292	CLIP-seq
MIRT1551578	hsa-miR-4313	CLIP-seq
MIRT2279635	hsa-miR-4417	CLIP-seq
MIRT2279636	hsa-miR-4437	CLIP-seq
MIRT2050466	hsa-miR-449a	CLIP-seq
MIRT2050467	hsa-miR-449b	CLIP-seq
MIRT2279637	hsa-miR-4514	CLIP-seq
MIRT1174532	hsa-miR-4643	CLIP-seq
MIRT2279638	hsa-miR-4645-5p	CLIP-seq
MIRT2050468	hsa-miR-4667-3p	CLIP-seq
MIRT2279639	hsa-miR-4673	CLIP-seq
MIRT2279640	hsa-miR-4674	CLIP-seq
MIRT2279641	hsa-miR-4690-3p	CLIP-seq
MIRT2279642	hsa-miR-4690-5p	CLIP-seq
MIRT1174536	hsa-miR-4691-3p	CLIP-seq
MIRT2279643	hsa-miR-4692	CLIP-seq
MIRT2050470	hsa-miR-4707-5p	CLIP-seq
MIRT2279644	hsa-miR-4722-3p	CLIP-seq
MIRT2279645	hsa-miR-4742-5p	CLIP-seq
MIRT2050473	hsa-miR-4749-3p	CLIP-seq
MIRT1174544	hsa-miR-4763-3p	CLIP-seq
MIRT2279646	hsa-miR-4769-3p	CLIP-seq
MIRT2279647	hsa-miR-495	CLIP-seq
MIRT1174548	hsa-miR-497	CLIP-seq
MIRT2279648	hsa-miR-582-5p	CLIP-seq
MIRT2279649	hsa-miR-603	CLIP-seq
MIRT2279650	hsa-miR-612	CLIP-seq
MIRT2279651	hsa-miR-637	CLIP-seq
MIRT2279652	hsa-miR-661	CLIP-seq
MIRT2279653	hsa-miR-671-5p	CLIP-seq
MIRT1174555	hsa-miR-759	CLIP-seq
MIRT1174556	hsa-miR-761	CLIP-seq
MIRT2279654	hsa-miR-875-3p	CLIP-seq
MIRT2050474	hsa-miR-885-3p	CLIP-seq
MIRT2279655	hsa-miR-922	CLIP-seq
MIRT1174557	hsa-miR-940	CLIP-seq
MIRT2279656	hsa-miR-942	CLIP-seq
MIRT2391367	hsa-miR-1184	CLIP-seq
MIRT2391368	hsa-miR-1226	CLIP-seq
MIRT2391369	hsa-miR-1291	CLIP-seq
MIRT2279611	hsa-miR-148a	CLIP-seq
MIRT2279612	hsa-miR-148b	CLIP-seq
MIRT2279613	hsa-miR-152	CLIP-seq
MIRT2391370	hsa-miR-1587	CLIP-seq
MIRT2391371	hsa-miR-2278	CLIP-seq
MIRT2279616	hsa-miR-2467-3p	CLIP-seq
MIRT2391372	hsa-miR-2861	CLIP-seq
MIRT2050459	hsa-miR-3173-5p	CLIP-seq
MIRT2391373	hsa-miR-3176	CLIP-seq
MIRT1174516	hsa-miR-328	CLIP-seq
MIRT2279627	hsa-miR-3678-3p	CLIP-seq
MIRT2391374	hsa-miR-378g	CLIP-seq
MIRT2391375	hsa-miR-3922-3p	CLIP-seq
MIRT2279630	hsa-miR-3944-5p	CLIP-seq
MIRT2279635	hsa-miR-4417	CLIP-seq
MIRT2391376	hsa-miR-4486	CLIP-seq
MIRT2391377	hsa-miR-4492	CLIP-seq
MIRT2391378	hsa-miR-4498	CLIP-seq
MIRT2391379	hsa-miR-4505	CLIP-seq
MIRT2391380	hsa-miR-4656	CLIP-seq
MIRT2391381	hsa-miR-4675	CLIP-seq
MIRT2279641	hsa-miR-4690-3p	CLIP-seq
MIRT1174536	hsa-miR-4691-3p	CLIP-seq
MIRT2391382	hsa-miR-4697-3p	CLIP-seq
MIRT2391383	hsa-miR-4741	CLIP-seq
MIRT2391384	hsa-miR-762	CLIP-seq
MIRT2050474	hsa-miR-885-3p	CLIP-seq
MIRT2391371	hsa-miR-2278	CLIP-seq
MIRT2279616	hsa-miR-2467-3p	CLIP-seq
MIRT2279627	hsa-miR-3678-3p	CLIP-seq
MIRT2279630	hsa-miR-3944-5p	CLIP-seq
MIRT2431474	hsa-miR-4519	CLIP-seq
MIRT2454864	hsa-miR-1185	CLIP-seq
MIRT2454865	hsa-miR-1265	CLIP-seq
MIRT2454866	hsa-miR-1825	CLIP-seq
MIRT2454867	hsa-miR-1972	CLIP-seq
MIRT2454868	hsa-miR-199a-5p	CLIP-seq
MIRT2454869	hsa-miR-199b-5p	CLIP-seq
MIRT2454870	hsa-miR-3605-5p	CLIP-seq
MIRT2454871	hsa-miR-3679-5p	CLIP-seq
MIRT2454872	hsa-miR-4650-5p	CLIP-seq
MIRT2454873	hsa-miR-4717-5p	CLIP-seq
MIRT2391369	hsa-miR-1291	CLIP-seq
MIRT2685827	hsa-miR-31	CLIP-seq
MIRT2050459	hsa-miR-3173-5p	CLIP-seq
MIRT2685828	hsa-miR-3184	CLIP-seq
MIRT2685829	hsa-miR-423-5p	CLIP-seq
MIRT2685830	hsa-miR-4688	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	19524112, 20385109
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0009066	Process	Aspartate family amino acid metabolic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0017188	Function	L-aspartate N-acetyltransferase activity	IBA
GO:0017188	Function	L-aspartate N-acetyltransferase activity	IDA	19524112
GO:0017188	Function	L-aspartate N-acetyltransferase activity	IEA
GO:0017188	Function	L-aspartate N-acetyltransferase activity	IMP	19807691, 20385109
GO:0017188	Function	L-aspartate N-acetyltransferase activity	TAS
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0031966	Component	Mitochondrial membrane	IDA	19524112, 20385109
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA

Other IDs

• MIM: 610647
• HGNC: 26742
• e!Ensembl: ENSG00000185818

Protein

• UniProt ID: Q8N9F0
• Protein name: N-acetylaspartate synthetase (NAA synthetase) (EC 2.3.1.17) (Camello-like protein 3) (N-acetyltransferase 8-like protein)
• Protein function: Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA (PubMed:19524112, PubMed:19807691, PubMed:20385109). Promotes dopamine uptake by regulating TNF-alpha expression (By similarity). Attenuates methamphetamine-
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00583	Acetyltransf_1	152 → 264	Acetyltransferase (GNAT) family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:19807691}.
• Sequence:

  MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPV
  AQPHGGAGGAGPPGGRGVCIREFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLL
  YALLAALCFAVSRSLLLTCLVPAALLGLRYYYSRKVIRAYLECALHTDMADIEQYYMKPP
  GSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIAKALGRKVLEFAVVHN
  YSAVVLGTTAVKVAAHKLYESLGFRHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLR
  EE

• Sequence length: 302

Pathways

KEGG Pathway	Reactome Pathway
Alanine, aspartate and glutamate metabolism	Aspartate and asparagine metabolism
Metabolic pathways

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Microcephaly	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
N-acetylaspartate deficiency	no classifications from unflagged records	ClinVar ClinGen	19807691, ClinGen report	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NAT8L-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29203337		★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	29456021		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26511490	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31520691		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29020418, 31520691		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31520691		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27709268		★☆☆☆☆ Found in Text Mining only
N-ACETYLASPARTATE DEFICIENCY	N-Acetylaspartate Deficiency	GENOMICS_ENGLAND_DG	19807691		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neoplasms	Neoplasms	BEFREE	28979238		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29020418, 31520691		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29020418, 31520691		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27348532		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29020418, 31520691		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ASNS 2 shared pathwaysAlanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism Related via 2 shared pathways including Alanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism. ASPA 2 shared pathwaysAlanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism Related via 2 shared pathways including Alanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism. FOLH1 2 shared pathwaysAlanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism Related via 2 shared pathways including Alanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism. GOT1 2 shared pathwaysAlanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism Related via 2 shared pathways including Alanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism. GOT2 2 shared pathwaysAlanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism Related via 2 shared pathways including Alanine, aspartate and glutamate metabolism, Aspartate and asparagine metabolism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ASNS	0	[]	2	["Alanine, aspartate and glutamate metabolism","Aspartate and asparagine metabolism"]	0	[]
ASPA	0	[]	2	["Alanine, aspartate and glutamate metabolism","Aspartate and asparagine metabolism"]	0	[]
FOLH1	0	[]	2	["Alanine, aspartate and glutamate metabolism","Aspartate and asparagine metabolism"]	0	[]
GOT1	0	[]	2	["Alanine, aspartate and glutamate metabolism","Aspartate and asparagine metabolism"]	0	[]
GOT2	0	[]	2	["Alanine, aspartate and glutamate metabolism","Aspartate and asparagine metabolism"]	0	[]

Diseases Linked via Similar Genes

Attention deficit hyperactivity disorder Linked via 1 of 5 related genesASNS Congenital microcephaly Linked via 1 of 5 related genesASNS Lipidoses Linked via 1 of 5 related genesASNS Lipoidosis Linked via 1 of 5 related genesASNS Liver neoplasms Linked via 1 of 5 related genesASNS

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Attention deficit hyperactivity disorder	1	["ASNS"]
Congenital microcephaly	1	["ASNS"]
Lipidoses	1	["ASNS"]
Lipoidosis	1	["ASNS"]
Liver neoplasms	1	["ASNS"]