GFAP (glial fibrillary acidic protein)

Gene

• Entrez ID: 2670
• Gene name: Glial fibrillary acidic protein
• Gene symbol: GFAP
• Synonyms (NCBI Gene): ALXDRD
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocyt

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28932769	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56679084	C>G	Uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs57120761	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57590980	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57661783	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs57815192	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58008462	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58064122	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs58075601	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58536923	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58645997	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58732244	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59285727	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59565950	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59568967	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59628143	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59661476	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59793293	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59985777	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60095124	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60269890	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60343255	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60449251	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60551555	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60825166	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61060395	A>C,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61497286	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61622935	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726468	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726470	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726471	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs62635764	C>A	Pathogenic, not-provided	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs62636501	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs112611995	G>C	Pathogenic	Intron variant
rs121909717	G>A,C,T	Pathogenic, not-provided	Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs121909718	C>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121909719	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121909720	G>T	Pathogenic	Coding sequence variant, missense variant
rs267607500	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607501	CCTT>ACTC	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607502	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607503	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607504	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607505	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607506	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607507	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607508	G>A,T	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs267607509	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607510	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607511	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607512	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607513	G>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607514	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607515	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607516	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607517	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607518	C>A,G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607519	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607520	T>G	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs267607521	T>A	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs267607523	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607525	T>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607526	C>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs571151302	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs748860341	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, intron variant
rs775524073	G>A,T	Likely-pathogenic	3 prime UTR variant, intron variant, synonymous variant, coding sequence variant
rs797044569	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797044570	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044571	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044572	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044573	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044574	T>G	Pathogenic	Missense variant, coding sequence variant
rs797044575	->GCCGCAGCT	Pathogenic	Inframe insertion, coding sequence variant
rs797044576	->CGCAGC	Pathogenic	Inframe insertion, coding sequence variant
rs797044577	A>T	Pathogenic	Missense variant, coding sequence variant
rs797044578	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044579	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044580	CA>AG	Pathogenic	Missense variant, coding sequence variant
rs797044581	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044582	G>T	Pathogenic	Missense variant, coding sequence variant
rs797044583	G>C	Pathogenic	Missense variant, coding sequence variant
rs797044584	->CAAGTG	Pathogenic	Inframe insertion, coding sequence variant
rs797044585	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044586	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044587	G>C	Pathogenic	Coding sequence variant, synonymous variant
rs797044588	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044589	T>G	Pathogenic	Missense variant, coding sequence variant
rs797044590	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs797044591	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs797044592	CAGCTAAC>GAT	Pathogenic	Frameshift variant, terminator codon variant, splice donor variant, 3 prime UTR variant, intron variant
rs1057518685	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518828	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555573462	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs1555574517	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567773470	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597853099	G>A	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1597864461	G>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016984	hsa-miR-335-5p	Microarray	18185580
MIRT733242	hsa-miR-146a-3p	Immunocytochemistry (ICC), Mass spectrometry, qRT-PCR, Western blotting	33968923
MIRT733607	hsa-miR-140-5p	Immunofluorescence, qRT-PCR, Western blotting	33987369
MIRT1016542	hsa-miR-1197	CLIP-seq
MIRT1016543	hsa-miR-1207-5p	CLIP-seq
MIRT1016544	hsa-miR-1285	CLIP-seq
MIRT1016545	hsa-miR-15a	CLIP-seq
MIRT1016546	hsa-miR-15b	CLIP-seq
MIRT1016547	hsa-miR-16	CLIP-seq
MIRT1016548	hsa-miR-195	CLIP-seq
MIRT1016549	hsa-miR-214	CLIP-seq
MIRT1016550	hsa-miR-3153	CLIP-seq
MIRT1016551	hsa-miR-3160-3p	CLIP-seq
MIRT1016552	hsa-miR-3162-5p	CLIP-seq
MIRT1016553	hsa-miR-3187-5p	CLIP-seq
MIRT1016554	hsa-miR-3619-5p	CLIP-seq
MIRT1016555	hsa-miR-3622b-5p	CLIP-seq
MIRT1016556	hsa-miR-3665	CLIP-seq
MIRT1016557	hsa-miR-3921	CLIP-seq
MIRT1016558	hsa-miR-3925-5p	CLIP-seq
MIRT1016559	hsa-miR-3945	CLIP-seq
MIRT1016560	hsa-miR-424	CLIP-seq
MIRT1016561	hsa-miR-4253	CLIP-seq
MIRT1016562	hsa-miR-4270	CLIP-seq
MIRT1016563	hsa-miR-4303	CLIP-seq
MIRT1016564	hsa-miR-4441	CLIP-seq
MIRT1016565	hsa-miR-4487	CLIP-seq
MIRT1016566	hsa-miR-4491	CLIP-seq
MIRT1016567	hsa-miR-4524	CLIP-seq
MIRT1016568	hsa-miR-4653-5p	CLIP-seq
MIRT1016569	hsa-miR-4657	CLIP-seq
MIRT1016570	hsa-miR-4668-5p	CLIP-seq
MIRT1016571	hsa-miR-4736	CLIP-seq
MIRT1016572	hsa-miR-4763-3p	CLIP-seq
MIRT1016573	hsa-miR-4764-5p	CLIP-seq
MIRT1016574	hsa-miR-497	CLIP-seq
MIRT1016575	hsa-miR-503	CLIP-seq
MIRT1016576	hsa-miR-558	CLIP-seq
MIRT1016577	hsa-miR-589	CLIP-seq
MIRT1016578	hsa-miR-612	CLIP-seq
MIRT1016579	hsa-miR-646	CLIP-seq
MIRT1016580	hsa-miR-761	CLIP-seq
MIRT2000900	hsa-miR-1224-3p	CLIP-seq
MIRT2000901	hsa-miR-1260	CLIP-seq
MIRT2000902	hsa-miR-1260b	CLIP-seq
MIRT2000903	hsa-miR-1280	CLIP-seq
MIRT1016545	hsa-miR-15a	CLIP-seq
MIRT1016546	hsa-miR-15b	CLIP-seq
MIRT1016547	hsa-miR-16	CLIP-seq
MIRT1016548	hsa-miR-195	CLIP-seq
MIRT1016549	hsa-miR-214	CLIP-seq
MIRT1016554	hsa-miR-3619-5p	CLIP-seq
MIRT1016560	hsa-miR-424	CLIP-seq
MIRT1016567	hsa-miR-4524	CLIP-seq
MIRT2000904	hsa-miR-4645-5p	CLIP-seq
MIRT2000905	hsa-miR-4673	CLIP-seq
MIRT2000906	hsa-miR-4699-5p	CLIP-seq
MIRT1016574	hsa-miR-497	CLIP-seq
MIRT1016575	hsa-miR-503	CLIP-seq
MIRT1016579	hsa-miR-646	CLIP-seq
MIRT1016580	hsa-miR-761	CLIP-seq
MIRT1016551	hsa-miR-3160-3p	CLIP-seq
MIRT1016565	hsa-miR-4487	CLIP-seq
MIRT2234320	hsa-miR-4663	CLIP-seq
MIRT1016576	hsa-miR-558	CLIP-seq
MIRT2450198	hsa-miR-1275	CLIP-seq
MIRT2450199	hsa-miR-1293	CLIP-seq
MIRT2450200	hsa-miR-3128	CLIP-seq
MIRT2450201	hsa-miR-3189-3p	CLIP-seq
MIRT2450202	hsa-miR-3198	CLIP-seq
MIRT2450203	hsa-miR-4259	CLIP-seq
MIRT2450204	hsa-miR-4309	CLIP-seq
MIRT2450205	hsa-miR-4483	CLIP-seq
MIRT2450206	hsa-miR-4653-3p	CLIP-seq
MIRT2450207	hsa-miR-4665-5p	CLIP-seq
MIRT2450208	hsa-miR-4715-5p	CLIP-seq
MIRT2450209	hsa-miR-4720-5p	CLIP-seq
MIRT2450210	hsa-miR-4731-5p	CLIP-seq
MIRT2450211	hsa-miR-4749-3p	CLIP-seq
MIRT2450212	hsa-miR-4799-3p	CLIP-seq
MIRT2450213	hsa-miR-578	CLIP-seq
MIRT2538396	hsa-miR-1184	CLIP-seq
MIRT2538397	hsa-miR-1205	CLIP-seq
MIRT2538398	hsa-miR-1324	CLIP-seq
MIRT2538399	hsa-miR-3158-5p	CLIP-seq
MIRT2538400	hsa-miR-3166	CLIP-seq
MIRT2538401	hsa-miR-4436b-3p	CLIP-seq
MIRT2538402	hsa-miR-4771	CLIP-seq
MIRT2538396	hsa-miR-1184	CLIP-seq
MIRT2538397	hsa-miR-1205	CLIP-seq
MIRT2538398	hsa-miR-1324	CLIP-seq
MIRT2538399	hsa-miR-3158-5p	CLIP-seq
MIRT2538400	hsa-miR-3166	CLIP-seq
MIRT2538401	hsa-miR-4436b-3p	CLIP-seq
MIRT2538402	hsa-miR-4771	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Activation	20414733
NFIC	Unknown	19540848
NFKB1	Activation	16516312
NFKB1	Unknown	20471977
RELA	Activation	16516312
RELA	Unknown	20471977
STAT3	Activation	21833841
STAT3	Unknown	11740937

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2740350
GO:0005515	Function	Protein binding	IPI	16189514, 17500595, 25416956, 25910212, 26871637, 27229929, 29892012, 31515488, 32296183, 32814053, 33961781, 34819669
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12355421
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	2740350
GO:0006886	Process	Intracellular protein transport	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010625	Process	Positive regulation of Schwann cell proliferation	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0014010	Process	Schwann cell proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0019900	Function	Kinase binding	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031102	Process	Neuron projection regeneration	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 25910212, 32296183
GO:0042995	Component	Cell projection	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	TAS	20176123
GO:0044297	Component	Cell body	IEA
GO:0045103	Process	Intermediate filament-based process	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IDA	15732097
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0051580	Process	Regulation of neurotransmitter uptake	IEA
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060252	Process	Positive regulation of glial cell proliferation	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0070779	Process	D-aspartate import across plasma membrane	IEA
GO:0097386	Component	Glial cell projection	IEA
GO:0097449	Component	Astrocyte projection	IEA
GO:0097450	Component	Astrocyte end-foot	IEA
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	IEA
GO:1904714	Process	Regulation of chaperone-mediated autophagy	IBA
GO:1904714	Process	Regulation of chaperone-mediated autophagy	IEA
GO:1904714	Process	Regulation of chaperone-mediated autophagy	ISS
GO:1904714	Process	Regulation of chaperone-mediated autophagy	TAS	20176123

Other IDs

• MIM: 137780
• HGNC: 4235
• e!Ensembl: ENSG00000131095

Protein

• UniProt ID: P14136
• Protein name: Glial fibrillary acidic protein (GFAP)
• Protein function: GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.
• PDB: 6A9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04732	Filament_head	1 → 67	Intermediate filament head (DNA binding) region	Family
  PF00038	Filament	68 → 376	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in cells lacking fibronectin. {ECO:0000269|PubMed:1847665}.
• Sequence:

  MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNA
  GFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAEL
  RELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEAT
  LARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
  QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLR
  GTNESLERQMREQEERHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALD
  IEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVSEGHLKRNIVVKTVEMRDGEV
  IKESKQEHKDVM

• Sequence length: 432

Pathways

KEGG:

JAK-STAT signaling pathway

Reactome:

Nuclear signaling by ERBB4

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
Alexander disease	Pathogenic; Likely pathogenic	rs2145642617, rs2145637388, rs2145632673, rs2508948888, rs267607508, rs797044592, rs797044590, rs797044588, rs797044582, rs797044581, rs797044579, rs797044578, rs267607518, rs61060395, rs797044570, rs58064122, rs59565950, rs121909717, rs59285727, rs59793293, rs61622935, rs57120761, rs58732244, rs121909718, rs121909719, rs28932769, rs121909720, rs2508949801, rs759844035, rs1057518685, rs571151302, rs1567773470, rs1597864461, rs267607515, rs267607511, rs62636501, rs58008462, rs58075601, rs267607512, rs61726471, rs60343255, rs57590980, rs267607509, rs60269890, rs61726470, rs267607514, rs1597853099	RCV001527383 RCV001725869 RCV002250013 RCV002463390 RCV000192183 RCV000192189 RCV000192180 RCV000192163 RCV000192148 RCV000192147 RCV000192145 RCV000192143 RCV000192117 RCV000192103 RCV000192098 RCV000017550 RCV000017551 RCV000017552 RCV000017553 RCV000017554 RCV000017555 RCV000017556 RCV000017557 RCV000017558 RCV000017559 RCV000017560 RCV000017561 RCV000017562 RCV003883277 RCV004547288 RCV000414950 RCV002051858 RCV000722139 RCV000789012 RCV000192157 RCV000192161 RCV000192162 RCV000192167 RCV000192173 RCV000192177 RCV000192181 RCV000192100 RCV000192107 RCV000192109 RCV000192118 RCV000192126 RCV000192133 RCV000192137 RCV000192141 RCV000192154 RCV000989932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GFAP-related disorder	Pathogenic; Likely pathogenic	rs2508951149, rs1421576880, rs58064122	RCV004548501 RCV003421094 RCV004748526	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive ventriculomegaly	Likely pathogenic	rs2145632623	RCV001391254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis	Likely pathogenic	rs1057518828	RCV000415341	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia, intellectual disability, nystagmus, and obesity	Pathogenic	rs59565950	RCV004786269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALEXANDER DISEASE TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, METACHROMATIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGEMINAL NEURALGIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	30303809, 30304049		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28730232		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31631484		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	24755947		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19358275, 22151431, 8853241		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23102810, 7518371, 7529297, 8875464		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17824792		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	27779080		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	11138011, 11398833, 11567214, 11587071, 11595337, 11723390, 11867077, 12026242, 12034785, 12034796, 12175861, 12175878, 12368989, 12447932, 12497239, 12581808, 12696672, 12801639, 12944715, 12975300, 14550921, 14770299, 15030911, 15139294, 15477559, 15495269, 15732097, 16168593, 16168595, 16217707, 16365765, 16507904, 16774812, 16826512, 17043438, 17065456, 17110673, 17299771, 17318298, 17498694, 17894839, 17934883, 17956445, 17960815, 17985264, 18004641, 18054694, 18079314, 18197187, 18276609, 18414043, 18584981, 18685083, 19129171, 19146851, 19379794, 19386454, 20110364, 20471977, 20721574, 20849398, 20964669, 21041050, 21233330, 21414908, 21533827, 21756903, 21822933, 21917775, 21940697, 21987397, 22118268, 22488673, 22693571, 22705585, 22890470, 23364391, 23594359, 23743246, 23903069, 24003221, 24045243, 24102621, 24742911, 24755947, 24806671, 25128567, 25828773, 25975510, 26208460, 26296699, 26719496, 26743065, 27133445, 27798231, 28112050, 28135564, 28223355, 28342553, 28359321, 28448978, 28634469, 28700643, 28882119, 29191363, 29226998, 29249301, 29253910, 29383757, 29573842, 29740945, 30048824, 30075130, 30126635, 30213442, 30355500, 30755139, 30942895, 31327963, 31455510, 31484723, 31611638, 31682229, 31838996, 9698163		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander Disease	CLINVAR_DG	11138011, 11567214, 11595337, 11867077, 12026242, 12034785, 12034796, 12368989, 12447932, 1250985, 12581808, 12638020, 12944715, 14550921, 14557587, 15030911, 15390001, 15465095, 15477559, 15675360, 15696488, 15732097, 15732098, 16168593, 16168595, 16217707, 16240361, 16505300, 16996408, 17043438, 17110673, 17156703, 17383133, 17438228, 17509491, 17629821, 17703343, 17805552, 17894839, 17934883, 17960815, 17985264, 18054694, 18079314, 18217876, 18388212, 18402384, 18495313, 18581469, 18584981, 18653683, 18684770, 19128991, 1941292, 19418047, 19618846, 19672978, 20562394, 20849398, 21041050, 21132324, 21165639, 21270471, 21533827, 21572052, 21822933, 21917775, 21987397, 22198646, 22302460, 22488673, 22566711, 22619055, 22818990, 23149175, 23185175, 23254569, 23634874, 23706596, 23743246, 23903069, 23925719, 24045243, 24188966, 24306001, 24427505, 24742911		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander Disease	UNIPROT_DG	11138011, 11567214, 11595337, 12034785, 12034796, 12581808, 12944715, 12975300, 15030911, 15732097, 17043438, 17805552, 17894839, 17934883, 17960815, 18004641, 18079314, 19412928, 20359319, 21917775, 23364391, 23743246, 24742911		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander Disease	LHGDN	11567214, 11587071, 12034796, 12447932, 12581808, 14557587, 15465095, 15477559, 15732097, 16168593, 16217707, 16826512, 17318298, 17703343, 17805552, 17894839, 17934883, 17985264, 18004641, 18054694, 18079314, 18197187, 18276609		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander disease	Pubtator	11567214, 16168593, 17038307, 17043438, 18388212, 18402384, 18653683, 18685083, 20110364, 20964669, 21572052, 21756903, 21917775, 21987397, 22488673, 23634874, 23743246, 24755947, 25997626, 26719496, 27402089, 27798231, 27814755, 28438749, 28580052, 30126635, 31004048, 31484723, 31611638, 31682229, 31952467, 32126152, 34046764, 34109421, 34888830, 35511821, 35831840, 35983725, 37000960, 39643430, 39868835, 40043923, 40329038	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander Disease	GENOMICS_ENGLAND_DG	12034785, 12447932, 14557587, 15732098, 16505300, 24357685, 24896178, 29095329		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander Disease	Alexander Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alexander disease type I	Alexander Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Alexander disease type II	Alexander Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	30051533		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19072283, 19686046, 19888461, 22832605, 23602650, 24269023, 2529544, 30040709, 30578620, 31454549, 32711556, 33049317, 33749648, 33905124, 34966527, 35383826, 36626935, 37002988, 37079306, 37268240, 37500404, 37533101, 37537264, 37697307, 37715200, 37848007, 37924152, 38554950, 39210294, 39385222, 39934339	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34828359, 36776057, 38178159, 39940998	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	25159669		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	16052170		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27312416, 27760398, 28611242, 28804999, 29234273, 30040726, 30248592, 31291963, 31509519, 31754385		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	11723166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16973300, 18205747, 18287500, 18312546, 19074031, 19179380, 21453731, 21752789, 22426476, 24907400, 30224549, 30487774, 31562223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23341441, 24312501, 30572951, 33167591, 36525477	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24312501	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	11723166		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	11723166		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	11680631, 17319279		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	22198646		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	22198646	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29907879		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29907879		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	17824792		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	23168288		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23418544	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	31132788		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10029102, 10442636, 10729162, 11058790, 11325859, 12237846, 12615729, 16507904, 1720762, 17463088, 17822324, 19379794, 19647039, 1999469, 20578042, 21075782, 21462187, 22705585, 23634874, 24102621, 24696300, 25128567, 25178519, 27683117, 28112050, 28236278, 29152145, 29258767, 30519355, 30520434, 30667110, 3139890, 31452754, 31756658, 3317103, 7529297, 8205549, 8339269, 8416742, 8959338, 9972884		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	16773221		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18691268, 19170683, 21075782, 23634874, 25973108, 26990854, 30520434, 33642282, 36350974, 8378327	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	23743246	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	11867077		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22198646, 31937580, 36192766	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26218733	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	BEFREE	29336201		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36769380	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37652704	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25846779, 28088366, 29885454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	21901840	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28088366, 28711670, 29234492		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24907905, 29499442, 30568655, 30685070, 31327295, 9335009		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	14550921		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	21177194		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28963051, 29482444, 29568888, 30029514, 31063183		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	31072410		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31327295		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	LHGDN	15885920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15885920, 19488045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	19488045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19488045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	31798416		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36811765, 37002988, 37924152	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	24164438	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	30797587, 39290417, 39314520	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	29969943, 30423808, 31417126	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	23466243, 27994144, 30227858, 31733648		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11103934, 16457706, 17483310, 18092184, 21484286, 23547822, 28969023, 8853241		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	16457706	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20235875, 33208163	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	27432276		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1382837, 8205522		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37834358	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31798416		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	21504125, 29757481		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	20964669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	13679444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24612689, 28225793		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22272636, 23601182	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31341183		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10580070, 18539904		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	27779080, 28782388		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	18092184, 23547822, 8959338		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	7839831		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	BEFREE	25178519		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	17919782, 29125039, 29462606		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24578611, 33734490, 39290417	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	31264214, 31779506		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27514013, 27881450, 27956400, 28272771, 28317235, 28325900, 28452132, 28751552, 29074065, 29308673, 29401502, 29476448, 30303809, 31702405		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Occlusion	Cerebrovascular Occlusion	BEFREE	25886567		★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	CTD_human_DG	21224254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19358275, 22151431, 8853241		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23102810, 7518371, 7529297, 8875464		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	19668151		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	19668151	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	22569967	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19668151		★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	31144425		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	11063991, 14977565, 16154690, 22031903, 28120349, 29755396, 30724768		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22745493, 27585561		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32066474, 37500404	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36601110	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	19886840, 37537264	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32066474	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21235736	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28730232		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28730232		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29122627, 29774780, 30940474		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	28707765		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28040762		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28629836		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	15556930		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30065662		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28793297		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28040762, 29733822		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	23780662, 30318820		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21235736	Inhibit	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29338117		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	30974239		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28326927		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	29477456		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	39210294	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	19420941, 20849398, 30248592, 30594925, 9335009		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37002988, 37834358, 37951931, 39643430	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	9335009		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	24907905, 30388417	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30885369		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	20802180	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	15885920		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	11754076, 19000745, 25098258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28348623, 28433620, 28700991, 29427595, 31705891, 31798416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	33479350	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26168014		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30388417	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18329889, 22143324, 28546444, 30311190, 30401898, 31388037		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18329889, 22143324, 28546444, 30118750, 30311190, 30401898, 31388037		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18709137	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23335850	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24915827, 27926781, 27984020, 28546444, 30685070, 31736937		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28546444, 29275072, 29943819		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28546444		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	27174668, 29484801		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28852447, 29186067, 30463601, 31327157, 31637594		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	35262732	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36430950	Stimulate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	30519355		★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	37259148	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	26806352, 28339768		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	27801899	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12931206, 25034944, 8492138		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	12931206		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	2529544, 29509279, 32819430, 37002988	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	14550921		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29626798		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	37697307	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	16222428, 19365854, 28223911, 30261896, 30690341, 30981282		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	14770299, 15857890, 16014634, 31773416, 9466565		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16640646, 26990854		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	7525408		★☆☆☆☆ Found in Text Mining only
Epilepsia Partialis Continua	Epilepsia Partialis Continua	BEFREE	26719496		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10336123, 17535102, 20430588, 28925561, 29023667, 30303442, 30952062, 31049031, 31059094, 31837458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	21177194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	30681365, 37833937	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	31321953, 36274170	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	21177194		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31059094, 31097691, 31321953		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	15156160, 29948176		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27781423, 28296680		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	24625695		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7839831		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31029786		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31029786		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	7611720		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11295052, 18347506, 8959338		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30071078		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	20430588		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	37587190	Associate	★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	28660986	Associate	★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30425621, 31029786		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30194648, 30224549, 30594925		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31937580, 34633446, 39934339, 39940998	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	39577322	Stimulate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	19018247		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	16520969		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	16520969		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	28859856		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	29098550		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	31669751	Associate	★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	BEFREE	11699553		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	28249091, 30903311		★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	27798231	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	25837926	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10433932, 12084347, 16078236, 1655272, 1847665, 18691268, 19115382, 19216795, 19809402, 20154711, 21284750, 22151431, 22337773, 22538188, 25845427, 28122246, 28340100, 28717884, 29152145, 29249301, 29746255, 29945963, 30034643, 30472185, 30519355, 31311947, 31769546, 8646740, 9650746		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	12084347		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12084347, 12946225, 17189382, 17465990, 19216795, 19288188, 20154711, 20235875, 20383808, 24075410, 28677106, 29364250, 29746255, 31311947, 31534165, 32998285, 33251771, 33735443, 35327982, 8378327	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16457706	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10433932, 11778649, 16078236, 1655272, 1847665, 18691268, 19115382, 19216795, 19809402, 20154711, 21284750, 21304179, 22151431, 22337773, 22538188, 25845427, 28122246, 28340100, 28717884, 29249301, 29535786, 29746255, 29945963, 30034643, 30472185, 31311947, 31769546, 8646740, 9650746		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10896661, 10936178, 18398462, 19813143, 20221446, 21075782, 22492246, 23589055, 23839947, 23852377, 27179220, 2825464, 30285781, 30770778, 33583081, 33607293, 34170383, 35713454, 8456947, 9439685	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18652516, 19231929, 20221446, 20430588, 20824710, 21075782, 21189253, 21706053, 23077666, 23344256, 23524267, 2472040, 25879429, 26352988, 28526577, 28592121, 28804038, 29383115, 29540297, 29797180, 30034643, 30145468, 31480854, 3303810, 8456947, 8702246, 9341940, 9530933, 9972884		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	22538188		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	35381788	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	26120272	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	34109421	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	LHGDN	18508349		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	29624650		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	29568769, 30861522		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28629836		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	17483958		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	18508359	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	15728360		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	33502774	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11494364, 12853570, 20494921, 23094041, 27236019, 27726161, 30312396, 9331174		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32070434	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	38569376	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28301218		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27926781, 31421247		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31146011		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	36769380	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33734490	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31128161, 31694504		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29155306		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22073257	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35335325	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30070096, 31182397		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22745493, 27558235, 27585561, 28625590, 29704199, 30594925, 31270712		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	22031903		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37652704	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31520444		★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	BEFREE	19482417		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	33797165	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27881450, 31702405		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	29408991		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	16052170	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27016413	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	15390001, 17065456, 21917775, 26743065, 29191363, 29253910, 30075130, 30755139		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	26719496	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24755947, 26208460, 29596541		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	1713123		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	19276553, 29755340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	15728360		★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	24164438	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	24164438		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17902184		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	25869927, 6614873		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	29191363		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	12928288	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	38087190	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	LHGDN	15238995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18585900, 19000745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	28625590, 29660602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	30806135		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10896661, 17902184, 19540848, 21075782, 23839947, 29383115, 30285781, 30393962, 31480854, 8702246, 9521851, 9591779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	17483310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1382837, 8205522		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27835867		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11678347, 18350379, 19647039, 2098494, 21075782, 21462187, 23339114, 24612689, 27432276, 28122246, 28639900, 29338117, 30667110, 30945284, 8874391		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	1441916, 19358275, 22151431, 23852537, 8853241		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19358275	Associate	★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	28929580		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12642316	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29338117		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	24755947	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20235875, 26352988	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	26352988, 31263851		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	28358903, 28768252		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	11754076, 19000745, 25098258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28348623, 28433620, 28700991, 29427595, 31705891, 31798416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	15885920, 31321953		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	30051533		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30154946		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	24440642		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	31050367		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	18922925		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15885920		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21453731, 9633809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Diseases	Mouth disease	Pubtator	28707765	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VII	Mucopolysaccharidosis	Pubtator	30413728	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	12860285		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14705970, 16856138, 17079667, 17879969, 21241398, 23334593, 24907905, 28663721, 28687730, 30484905, 30570436, 31050367, 31471502, 8990125		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17360586	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24907905, 31050367, 35204724, 37848007	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31123861, 35951535	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30632058		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	40082225	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	23455181		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24915827		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30065662		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	12669240, 31024060		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11454237, 20171226, 31341183		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	20423733		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30817119		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10064395, 10433932, 11238030, 11678347, 11680631, 11810181, 11939586, 12084347, 12615729, 1320358, 1441916, 15148503, 16402276, 16520969, 16529724, 16623779, 17599090, 17822324, 17902184, 18092184, 19122659, 19540848, 19668151, 20514402, 21075782, 22120608, 22534715, 22640269, 2305928, 23077666, 23339114, 23455181, 23601182, 24232252, 2472040, 25080476, 25178519, 26183264, 26762242, 26817999, 27492457, 28122246, 28185325, 28481241, 28660986, 28677106, 28730232, 28870788, 29141672, 29169623, 29570009, 29599003, 30292065, 30534564, 30681624, 30787232, 30871240, 30922921, 30945284, 31197414, 31263851, 31327295, 7518371, 7595657, 8286200, 8339269, 8623938, 8702246, 8734420, 9266149, 9341940, 9637402, 9972884		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	10773198, 9427479, 9634552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	18055541, 18276609, 25975510, 27133445, 28751552, 29635011, 30605794, 30690341, 31087810, 31754385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurilemmoma	Neurilemmoma	BEFREE	15837555, 26121316, 29970075, 30681624		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	15837555		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	7529297		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30040709, 33027920, 39290417, 39824235	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37500404	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19433893, 19587456, 21453731, 23594359, 24045243, 24696300, 26996101, 27609518, 29573842, 30213442, 30248592, 30594925, 31649496		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30388417		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27781423, 28296680		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	10442636, 23318450, 28525381, 7602332		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	CTD_human_DG	18509235		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	21241398, 23535508, 24190619, 24758159, 30426010, 30690341, 30825702, 31471502		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30817119		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	28841900, 29223359		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28358810		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29742238, 30938715		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28498493		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25997626	Associate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	12615729, 17319279, 17543079, 21293300, 23102810, 7518371, 7529297, 8416742, 8875464		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	16773221		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	19934553	Associate	★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	28525381		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	29233635		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19668151		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19668151	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Meningioma	Papillary Meningioma	BEFREE	19482417		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	29210929		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10462075, 16410750, 19276553, 24749759, 24948069, 25120226, 28276259, 28769786, 28958936, 28986252, 29467625, 29519253, 29626798, 30594925, 31396803, 31800144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	31828965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	20849398, 28746897		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	10447555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28801619, 31748578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28801619, 31748578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25846779		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	8965095		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	30594925		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	15156160, 28402943		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	30074494		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28660986, 33001343	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	1855184, 26352988		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28625590		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	19420941, 20849398, 30248592, 9335009		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	26847180		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	17960815, 23743246		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	20849398, 24749759		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	15156160		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	15156160, 18552386		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27835867		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34222466	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	30388417	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31321953		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	21447391, 31185026, 31796062		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	26279003	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31128161, 31529081		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	1606838		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27488116	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31788758		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	24419315		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	24419315	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	20925002	Associate	★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26183264		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	18347506		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15885920, 19405953, 22875919, 27801899, 28552414, 28603087, 28705472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15885920, 19034380, 19110265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15885920, 19405953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19405953	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27801899	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	27987059		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30388417	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15979880, 21955601, 22795384, 24269023, 27098516, 3507557, 7891822		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29058589, 31078998		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	17043438	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11723390		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	37482941	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	CTD_human_DG	8422324		★☆☆☆☆ Found in Text Mining only
Spina Bifida, Open	Spina Bifida	CTD_human_DG	8422324		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	20621092, 24612193		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31123861		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	1713123		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28669125, 29930499, 30357924, 30781501, 31090233, 31790668		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39824235	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	LHGDN	16866629		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28174030, 31749137		★☆☆☆☆ Found in Text Mining only
Supratentorial Neoplasms	Supratentorial Neoplasm	BEFREE	24457079		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31354934		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigeminal Neuralgia, Idiopathic	Trigeminal neuralgia	CTD_human_DG	27093858		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia, Idiopathic	Trigeminal neuralgia	BEFREE	31209727		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	20430588		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	37652704	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18585900, 19000745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	28625590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	39643430	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29338117		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	20573469, 29098663		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	15156160, 15988409, 28777835	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12615729, 17319279, 17543079, 21293300, 23102810, 7518371, 7529297, 8416742, 8875464		★☆☆☆☆ Found in Text Mining only