NAT8L (N-acetyltransferase 8 like)

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

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)

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

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	Evidence Score
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
N-acetylaspartate deficiency	no classifications from unflagged records	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAT8L-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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