ASPA (aspartoacylase)

Gene

• Entrez ID: 443
• Gene name: Aspartoacylase
• Gene symbol: ASPA
• Synonyms (NCBI Gene): ACY2, ASP
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052301	hsa-let-7b-5p	CLASH	23622248
MIRT711580	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT711578	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT711579	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT711577	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT711576	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT711575	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT711580	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT711578	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT711579	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT711577	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT711576	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT711575	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT803104	hsa-miR-218	CLIP-seq
MIRT803105	hsa-miR-636	CLIP-seq
MIRT1937191	hsa-miR-28-5p	CLIP-seq
MIRT1937192	hsa-miR-3139	CLIP-seq
MIRT1937193	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22284616, 25416956, 25910212, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006083	Process	Acetate metabolic process	IEA
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0019807	Function	Aspartoacylase activity	IDA	8252036
GO:0019807	Function	Aspartoacylase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 17194761
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 608034
• HGNC: 756
• e!Ensembl: ENSG00000108381

Protein

• UniProt ID: P45381
• Protein name: Aspartoacylase (EC 3.5.1.15) (Aminoacylase-2) (ACY-2)
• Protein function: Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues
• PDB: 2I3C, 2O4H, 2O53, 2Q51, 4MRI, 4MXU, 4NFR, 4TNU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04952	AstE_AspA	10 → 301	Succinylglutamate desuccinylase / Aspartoacylase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver. {ECO:0000269|PubMed:8252036}.
• Sequence:

  MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKK
  CTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTS
  NMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVG
  PQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
  AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
  LTLNAKSIRCCLH

• Sequence length: 313

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	rs2073669074	RCV001814271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASPA-related disorder	Pathogenic; Likely pathogenic	rs12948217, rs769653717	RCV004757094 RCV004757271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Likely pathogenic; Pathogenic	rs753871454	RCV004698509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Canavan Disease, Familial Form	Likely pathogenic; Pathogenic	rs1289890879, rs1057516315, rs28940279, rs104894548, rs28940574, rs104894549, rs12948217, rs104894553, rs767666474, rs780936696, rs786204572, rs761064915, rs774323189, rs201887670, rs1331100491, rs2150746934, rs756198538, rs1057516995, rs766720790, rs1057521115, rs63751297, rs1555539903, rs1446467099, rs777936704, rs754087904, rs753871454, rs1555538144, rs1014551540, rs773049803, rs745832703	RCV002300610 RCV002281775 RCV000590467 RCV003387712 RCV000588914 RCV001174807 RCV000588866 RCV005237347 RCV002265655 RCV000780870 RCV002265654 RCV001293576 RCV000587229 RCV003230909 RCV004587498 RCV004701737 RCV000780872 RCV003330657 RCV001328425 RCV004689735 RCV002222362 RCV000589812 RCV001194237 RCV004768544 RCV005431863 RCV000780869 RCV003117477 RCV003323670 RCV001194236 RCV003230648	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild Canavan disease	Likely pathogenic; Pathogenic	rs2150748728, rs104894553	RCV002274814 RCV000002734	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spongy degeneration of central nervous system	Likely pathogenic; Pathogenic	rs2150764241, rs2150741916, rs2150764223, rs2150746796, rs2150741788, rs1480068143, rs2150746934, rs1380839164, rs757607501, rs2150741666, rs2150741844, rs2150764080, rs2150741648, rs2150741763, rs1289890879, rs2150748728, rs1555539857, rs28940279, rs104894548, rs28940574, rs104894549, rs12948217, rs104894550, rs2543636027, rs104894551, rs104894552, rs104894553, rs2543624410, rs2543619949, rs2073633067, rs767666474, rs780936696, rs786204620, rs786204572, rs761064915, rs774323189, rs747438350, rs2543636344, rs2543624299, rs2543606313, rs2543624402, rs2543619356, rs2543606575, rs2543619403, rs2543624765, rs2543619675, rs2543636229, rs2543619589, rs2543636035, rs2543606652, rs778203652, rs1483554951, rs201887670, rs2543619809, rs1331100491, rs2543658229, rs2543647904, rs753871454, rs778385612, rs2543606372, rs2543619739, rs2543658239, rs2543624471, rs2543606405, rs2543647908, rs2543658211, rs2543606824, rs1470172490, rs2073629527, rs2543648257, rs1597422213, rs1567608718, rs2543606240, rs2073779014, rs2543658129, rs2543658121, rs2543624449, rs1555538157, rs2073522549, rs1057516879, rs1057517291, rs756198538, rs1057516962, rs1057516416, rs1057516498, rs1057516315, rs1057516995, rs1057517066, rs1057517085, rs375736464, rs766720790, rs1057516309, rs1057517260, rs199565861, rs1057521115, rs147763700, rs63751297, rs1446467099, rs777936704, rs754087904, rs1555539897, rs769653717, rs1555541291, rs1555541304, rs1555541278, rs1555538144, rs1555539105, rs1014551540, rs1555540674, rs1555538825, rs1335267315, rs750505963, rs1597422432, rs1597439028, rs937670540, rs1597439149, rs779440632, rs2073669074, rs1209227358, rs773049803, rs745832703, rs2073877472, rs1482032907	RCV001376834 RCV001381119 RCV001387392 RCV001780648 RCV001838860 RCV001838861 RCV001999634 RCV001942898 RCV002046315 RCV001943637 RCV001978144 RCV001974237 RCV001960686 RCV001939786 RCV001888622 RCV005095987 RCV002283723 RCV000002723 RCV000002724 RCV000002725 RCV000002726 RCV000002727 RCV000002730 RCV000002731 RCV000002732 RCV000002733 RCV000363108 RCV002306752 RCV002309661 RCV003475342 RCV000169442 RCV000169526 RCV000169388 RCV000169314 RCV000169117 RCV000169134 RCV003064376 RCV003064377 RCV003086631 RCV003121468 RCV002635094 RCV002711342 RCV002792089 RCV002810751 RCV002834946 RCV002880558 RCV002885185 RCV003003133 RCV003045702 RCV003029091 RCV003057961 RCV003032968 RCV003475549 RCV003472799 RCV003472825 RCV003472832 RCV003472842 RCV003472863 RCV003472867 RCV003472874 RCV003472877 RCV003472881 RCV003472889 RCV003472899 RCV003472903 RCV003472911 RCV003499146 RCV003499994 RCV003499995 RCV003499996 RCV003499997 RCV003606053 RCV003606232 RCV003606387 RCV003606264 RCV003605333 RCV003605341 RCV003605431 RCV003606892 RCV004573659 RCV004573667 RCV004573668 RCV004573673 RCV000411719 RCV000411599 RCV000411166 RCV000410405 RCV000409149 RCV000409139 RCV000410986 RCV000411129 RCV000411452 RCV000411691 RCV000409473 RCV000409212 RCV000409768 RCV000410855 RCV000675094 RCV001276652 RCV000577927 RCV002513318 RCV000671501 RCV000673780 RCV000670708 RCV000669559 RCV000670789 RCV000665338 RCV000666161 RCV000672925 RCV000665535 RCV000673064 RCV000668013 RCV000672147 RCV000665376 RCV000670116 RCV000667637 RCV000665477 RCV000668560 RCV000667104 RCV000670119 RCV000670418 RCV000819100 RCV000819561 RCV001004408 RCV001004409 RCV001004410 RCV001041199 RCV001046703 RCV001090094 RCV001170055 RCV001828602 RCV001222487 RCV001248818 RCV001264316	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANAVAN DIS FAMILIAL FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANAVAN DIS TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANAVAN DISEASE	—	CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uveal melanoma	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 lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12518376, 26457809, 28060110, 28440015, 29165013, 29217160		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16320248		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12518376, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Aminoacylase 2 Deficiency	Aminoacylase deficiency	BEFREE	15784740		★☆☆☆☆ Found in Text Mining only
Aminoacylase 2 Deficiency	Aminoacylase deficiency	CTD_human_DG	17027983, 17194761		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12684256, 15033338, 15885796, 20132478		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30336339		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37247276	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	10407784, 10464621, 10701101, 10704428, 10837925, 10894213, 10909858, 12162821, 12638939, 12718900, 14572138, 15243987, 15784740, 1588011, 16217711, 16437572, 16532510, 16669630, 16802706, 16854607, 17027983, 17194761, 17391648, 17999961, 19235826, 19319678, 20129749, 20393311, 20637281, 20673702, 21907889, 22219087, 2234319, 22750302, 22850825, 23233226, 23817205, 24036223, 25003821, 25668701, 26613958, 26797702, 27039844, 27531131, 27717881, 28101991, 28130616, 28194442, 28349879, 28879565, 29116375, 29456021, 29795570, 30446350, 31260162, 8088831, 8252036, 8412017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan Disease	UNIPROT_DG	10407784, 10564886, 10909858, 12205125, 12638939, 12706335, 24036223, 28101991, 7599639, 7668285, 8023850, 8252036, 8659549, 9452117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan Disease	CLINVAR_DG	10407784, 10701101, 10909858, 12205125, 12638939, 16138249, 16217711, 16437572, 16802711, 16854607, 17027983, 17194761, 17391648, 17999961, 18070137, 18978679, 19685155, 20129749, 21228398, 21907889, 22019069, 22219087, 22611636, 22750302, 22850825, 22878930, 23233226, 23253610, 23971085, 25003821, 25107638, 26586007, 27927234, 7668285, 8023850, 8037206, 8252036, 8659549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan Disease	LHGDN	16437572, 17391648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan disease	Pubtator	16669630, 17027983, 17391648, 20393311, 20637281, 23253610, 24278309, 28101991, 29795570, 30834272, 33914734, 36202930, 38309148, 7668285, 8037206	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan Disease	CTD_human_DG	17027983, 17194761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease	Canavan Disease	GENOMICS_ENGLAND_DG	27604308, 8659549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease, Familial Form	Canavan Disease	CLINVAR_DG	10407784, 10701101, 10909858, 11238686, 12638939, 16854607, 18978679, 22019069, 22850825, 22878930, 23253610, 8023850, 8252036, 8659549		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Canavan Disease, Familial Form	Canavan Disease	CTD_human_DG	17027983, 17194761		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Canavan Disease, Infantile	Canavan Disease	CTD_human_DG	17027983, 17194761		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Infantile	Canavan Disease	ORPHANET_DG	21625469		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Juvenile	Canavan Disease	CTD_human_DG	17027983, 17194761		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Juvenile	Canavan Disease	ORPHANET_DG	21625469		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Neonatal	Canavan Disease	CTD_human_DG	17027983, 17194761		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Neonatal	Canavan Disease	ORPHANET_DG	21625469		★☆☆☆☆ Found in Text Mining only
Canavan Disease, Sporadic Form	Canavan Disease	CTD_human_DG	17027983, 17194761		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30786942		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	28077719		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10910927, 12518376, 19741605, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34564978	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23948443, 24331409		★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24782052		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36202930	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	19319678		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25202993		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27234618		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	22011642, 22130450		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29795570		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	29795570	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28245795		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28245795	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28245795		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23884408, 23996800		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	22750302		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
leukemia	Leukemia	BEFREE	27885727, 9490695		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	16532510, 17275978, 27717881, 8412017		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	24278309, 30834272	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31570005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30336339		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23884408, 29113054		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Mild Canavan disease	Canavan Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25447692		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23884408, 23948443		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10894213		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21128244		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21128244	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10407784, 10894213, 17391648		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24331409, 25173530, 26860843, 27127129		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12438443, 8772727		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	24278309	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31515171		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14872483, 29735171		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10924404, 25720829		★☆☆☆☆ Found in Text Mining only
Severe Canavan disease	Canavan Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37391709	Associate	★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	29795570		★☆☆☆☆ Found in Text Mining only