ATXN2 (ataxin 2)

Gene

• Entrez ID: 6311
• Gene name: Ataxin 2
• Gene symbol: ATXN2
• Synonyms (NCBI Gene): ATX2, SCA2, TNRC13
• Chromosome: 12
• Chromosome location: 12q24.12
• Summary: This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globula

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052164	hsa-let-7b-5p	CLASH	23622248
MIRT036445	hsa-miR-1226-3p	CLASH	23622248
MIRT689739	hsa-miR-4293	HITS-CLIP	23313552
MIRT689738	hsa-miR-299-3p	HITS-CLIP	23313552
MIRT689737	hsa-miR-544b	HITS-CLIP	23313552
MIRT689736	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT689735	hsa-miR-2114-3p	HITS-CLIP	23313552
MIRT689734	hsa-miR-6823-3p	HITS-CLIP	23313552
MIRT689733	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT052164	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT689732	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT689731	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT689730	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT689729	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT689728	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT689727	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT689726	hsa-miR-4458	HITS-CLIP	23313552
MIRT689725	hsa-miR-4500	HITS-CLIP	23313552
MIRT689724	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT689723	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT689722	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT689721	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT689720	hsa-miR-6508-3p	HITS-CLIP	23313552
MIRT689719	hsa-miR-342-5p	HITS-CLIP	23313552
MIRT689718	hsa-miR-4664-5p	HITS-CLIP	23313552
MIRT689717	hsa-miR-4651	HITS-CLIP	23313552
MIRT689716	hsa-miR-608	HITS-CLIP	23313552
MIRT689715	hsa-miR-6747-5p	HITS-CLIP	23313552
MIRT689714	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT689713	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT689712	hsa-miR-6769a-5p	HITS-CLIP	23313552
MIRT689711	hsa-miR-6769b-5p	HITS-CLIP	23313552
MIRT689710	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT689709	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT689708	hsa-miR-4447	HITS-CLIP	23313552
MIRT689707	hsa-miR-4472	HITS-CLIP	23313552
MIRT689706	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT689705	hsa-miR-6793-5p	HITS-CLIP	23313552
MIRT689704	hsa-miR-6737-5p	HITS-CLIP	23313552
MIRT689703	hsa-miR-6812-5p	HITS-CLIP	23313552
MIRT689702	hsa-miR-6819-5p	HITS-CLIP	23313552
MIRT689701	hsa-miR-3940-5p	HITS-CLIP	23313552
MIRT689700	hsa-miR-4507	HITS-CLIP	23313552
MIRT689699	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT624628	hsa-miR-4274	HITS-CLIP	23824327
MIRT624627	hsa-miR-4519	HITS-CLIP	23824327
MIRT624626	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT624625	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT624624	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT689739	hsa-miR-4293	HITS-CLIP	23313552
MIRT689738	hsa-miR-299-3p	HITS-CLIP	23313552
MIRT689737	hsa-miR-544b	HITS-CLIP	23313552
MIRT689736	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT689735	hsa-miR-2114-3p	HITS-CLIP	23313552
MIRT689734	hsa-miR-6823-3p	HITS-CLIP	23313552
MIRT689733	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT052164	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT689732	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT689731	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT689730	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT689729	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT689728	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT689727	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT689726	hsa-miR-4458	HITS-CLIP	23313552
MIRT689725	hsa-miR-4500	HITS-CLIP	23313552
MIRT689724	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT689723	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT689722	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT689721	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT689720	hsa-miR-6508-3p	HITS-CLIP	23313552
MIRT689719	hsa-miR-342-5p	HITS-CLIP	23313552
MIRT689718	hsa-miR-4664-5p	HITS-CLIP	23313552
MIRT689717	hsa-miR-4651	HITS-CLIP	23313552
MIRT689716	hsa-miR-608	HITS-CLIP	23313552
MIRT689715	hsa-miR-6747-5p	HITS-CLIP	23313552
MIRT689714	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT689713	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT689712	hsa-miR-6769a-5p	HITS-CLIP	23313552
MIRT689711	hsa-miR-6769b-5p	HITS-CLIP	23313552
MIRT689710	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT689709	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT689708	hsa-miR-4447	HITS-CLIP	23313552
MIRT689707	hsa-miR-4472	HITS-CLIP	23313552
MIRT689706	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT689705	hsa-miR-6793-5p	HITS-CLIP	23313552
MIRT689704	hsa-miR-6737-5p	HITS-CLIP	23313552
MIRT689703	hsa-miR-6812-5p	HITS-CLIP	23313552
MIRT689702	hsa-miR-6819-5p	HITS-CLIP	23313552
MIRT689701	hsa-miR-3940-5p	HITS-CLIP	23313552
MIRT689700	hsa-miR-4507	HITS-CLIP	23313552
MIRT689699	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT624628	hsa-miR-4274	HITS-CLIP	23824327
MIRT624627	hsa-miR-4519	HITS-CLIP	23824327
MIRT624626	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT624625	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT624624	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT811092	hsa-miR-15a	CLIP-seq
MIRT811093	hsa-miR-15b	CLIP-seq
MIRT811094	hsa-miR-16	CLIP-seq
MIRT811095	hsa-miR-195	CLIP-seq
MIRT811096	hsa-miR-424	CLIP-seq
MIRT811097	hsa-miR-451b	CLIP-seq
MIRT811098	hsa-miR-4524	CLIP-seq
MIRT811099	hsa-miR-4699-3p	CLIP-seq
MIRT811100	hsa-miR-4724-5p	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq
MIRT811102	hsa-miR-497	CLIP-seq
MIRT811103	hsa-miR-503	CLIP-seq
MIRT811104	hsa-miR-646	CLIP-seq
MIRT1939910	hsa-miR-1206	CLIP-seq
MIRT1939911	hsa-miR-3682-5p	CLIP-seq
MIRT1939912	hsa-miR-3688-3p	CLIP-seq
MIRT1939913	hsa-miR-433	CLIP-seq
MIRT1939914	hsa-miR-4477a	CLIP-seq
MIRT1939915	hsa-miR-4639-3p	CLIP-seq
MIRT1939916	hsa-miR-494	CLIP-seq
MIRT1939917	hsa-miR-498	CLIP-seq
MIRT1939918	hsa-miR-621	CLIP-seq
MIRT2179020	hsa-miR-2276	CLIP-seq
MIRT2179021	hsa-miR-340	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT2179023	hsa-miR-4328	CLIP-seq
MIRT811098	hsa-miR-4524	CLIP-seq
MIRT2444482	hsa-miR-1321	CLIP-seq
MIRT2444483	hsa-miR-3154	CLIP-seq
MIRT2444484	hsa-miR-3529	CLIP-seq
MIRT2444485	hsa-miR-379	CLIP-seq
MIRT2444486	hsa-miR-4451	CLIP-seq
MIRT2444487	hsa-miR-4650-3p	CLIP-seq
MIRT2444488	hsa-miR-4739	CLIP-seq
MIRT2444489	hsa-miR-4756-5p	CLIP-seq
MIRT2444490	hsa-miR-765	CLIP-seq
MIRT2444491	hsa-miR-936	CLIP-seq
MIRT2482496	hsa-miR-1179	CLIP-seq
MIRT2482497	hsa-miR-1264	CLIP-seq
MIRT2482498	hsa-miR-337-3p	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT2482499	hsa-miR-3651	CLIP-seq
MIRT1939912	hsa-miR-3688-3p	CLIP-seq
MIRT2482500	hsa-miR-3943	CLIP-seq
MIRT2482501	hsa-miR-4323	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq
MIRT1939916	hsa-miR-494	CLIP-seq
MIRT2482496	hsa-miR-1179	CLIP-seq
MIRT2482497	hsa-miR-1264	CLIP-seq
MIRT2482498	hsa-miR-337-3p	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	22914732
ZNF350	Activation	20926453

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002091	Process	Negative regulation of receptor internalization	IMP	18602463
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	10814712
GO:0003729	Function	MRNA binding	IBA
GO:0005154	Function	Epidermal growth factor receptor binding	IPI	18602463
GO:0005515	Function	Protein binding	IPI	10814712, 15663938, 16115810, 16713569, 17097639, 17392519, 18602463, 20181956, 20740007, 23209657, 24981860, 26184334, 32814053, 33961781, 35271311, 39251607
GO:0005737	Component	Cytoplasm	IDA	10814712, 10973246, 17392519
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	12812977, 17097639
GO:0005802	Component	Trans-Golgi network	IDA	10814712
GO:0005829	Component	Cytosol	IDA
GO:0006417	Process	Regulation of translation	NAS	16835262
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	17392519
GO:0016020	Component	Membrane	HDA	19946888
GO:0016070	Process	RNA metabolic process	NAS	15663938
GO:0033962	Process	P-body assembly	IMP	17392519
GO:0034063	Process	Stress granule assembly	IBA
GO:0034063	Process	Stress granule assembly	IMP	17392519
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17097639
GO:0050658	Process	RNA transport	NAS	10814712
GO:1990904	Component	Ribonucleoprotein complex	IDA	16835262

Other IDs

• MIM: 601517
• HGNC: 10555
• e!Ensembl: ENSG00000204842

Protein

• UniProt ID: Q99700
• Protein name: Ataxin-2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat-containing gene 13 protein)
• Protein function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
• PDB: 3KTR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14438	SM-ATX	265 → 341	Ataxin 2 SM domain	Domain
  PF06741	LsmAD	409 → 476	LsmAD domain	Domain
  PF07145	PAM2	909 → 926	Ataxin-2 C-terminal region	Motif

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate
• Sequence:

  MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGP
  GPPPSRQSSPPSASDCFGSNGNGGGAFRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAA
  PTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ
  QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRP
  GLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPK
  CDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA
  KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLS
  SYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSE
  REGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG
  SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPS
  AHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAAT
  PPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV
  AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAEN
  KGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNKNREGEKSRDLIKDKIEPSA
  KDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKE
  EKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQ
  PVCFAPNMMYPVPVSPGVQPLYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPA
  SAAGPPIAATPPAYSTQYVAYSPQQFPNQPLVQHVPHYQSQHPHVYSPVIQGNARMMAPP
  THAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSFYFAISTGSLAQQYAHPNATL
  HPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQSAIYHAGLAP
  TPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHP
  TAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL

• Sequence length: 1313

Pathways

KEGG:

Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases

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
Amyotrophic lateral sclerosis	Likely pathogenic	rs193922927	RCV001260553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease, late-onset	Pathogenic	rs1885090126	RCV003485686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 2	Pathogenic; Likely pathogenic	rs193922927, rs1885090126	RCV004566534 RCV001195091 RCV005253771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMISH INFANTILE EPILEPSY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATXN2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM3 synthase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Likely pathogenic, low penetrance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	26151821, 26621817, 27197191, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30615214		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASCAT_DG	25608926		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26677855	Associate	★☆☆☆☆ Found in Text Mining only
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	30615214		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	30615214		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16545397, 20740007, 21292779, 21479228, 21537950, 21562247, 21562248, 21610160, 21660502, 21670397, 21741123, 21889984, 21956718, 22035589, 22037902, 22072660, 22409360, 22425256, 22507827, 22526021, 22764223, 22868089, 22872568, 22916186, 23172909, 23197749, 23635656, 23936447, 23959108, 24140266, 24269018, 24333172, 24718895, 25098532, 25148523, 25285812, 25457026, 25527265, 25790475, 26095883, 26192745, 26208502, 26599997, 26733254, 27298447, 27377857, 27531668, 28017481, 28124431, 28405022, 28527524, 28587229, 28955296, 28980860, 29080331, 29462666, 29665996, 29772202, 29895397, 29934271, 30194296, 30342763, 30342765, 30847648, 31390360, 31432357, 31690171		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21292779, 21479228, 21562248, 21610160, 22526021, 22764223, 22916186, 23048034, 23936447, 23959108, 24269018, 25098532, 25111021, 25382069, 25527265, 26192745, 26208502, 26733254, 29462666, 29628143, 30342763, 33058338, 33284045, 33414559, 35521889, 35525134, 35869263, 36823368, 37608584	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	27377857		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	25098532, 28642336	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	27377857		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	29428949		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	27377857		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	21741123, 30847648		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	23844121		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	23844121	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	25630585	Stimulate	★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	30920184	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20647273	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25979711	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21150878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	31036433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	11804332, 18160752, 21088341, 23959108, 30920184, 8836199	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	20069235	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	10399872, 10712199, 11374096, 11563629, 11844730, 15080863, 19429075, 19473475, 21163215, 21717286, 22072660, 22971727, 23031666, 26077168, 26362908, 26374734, 28119557, 28587229, 28612427, 30158163, 30933216, 8178818, 8615077, 8812488, 8896557, 8931575, 9339681, 9339711, 9577387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	17715286, 17850638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxias, Hereditary	Ataxia	BEFREE	10746559, 19429075, 23462481		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21088341	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	BEFREE	9762957		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	GWASCAT_DG	24768677		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24074872	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29437585		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	BEFREE	15911147, 17568014		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	31106349		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	9020849		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21060863, 29437585, 30642433	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	18311140, 20190752, 22057235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	18311140, 20190752, 22057235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	22144904	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	16436644, 22520093	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28684172, 9403486		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	10642945, 24657153		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22258915, 35297556, 35869263	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	31036433		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	23603763, 26974007, 27992413		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20926453		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	26151821, 26621817, 27197191, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	21975856		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125, 24262325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	27338949, 28843344	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	24262325		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	29553382		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	18265007		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28124431, 8162021		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30642433	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	10768629, 10785256, 11018707, 11448300, 11939898, 12116198, 12542511, 17420317, 19659750, 22971727, 26538302, 8559378, 9020849, 9106530, 9109985, 9613852, 9696528		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31523939		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	31523939	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	22605703	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22144904, 33446885	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480, 21980299		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480, 21829393, 25751624, 29310926		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30254083		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	35297556	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	18265007		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	18297329		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26850065, 28117213		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29879492	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20157791, 22491195, 29553382, 30158163, 30616057		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31523939	Stimulate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	24602359		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	GWASCAT_DG	26621817		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	15008574	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15008574	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34995801	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	17712857, 30590599		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	26077168	Associate	★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	11591855		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	21956718, 24866401, 25098532, 29080331, 30342763, 31810584		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24866401, 29628143, 35521889, 37146135	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	22035589, 22037902, 24718895, 28124431, 28980860		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	BEFREE	21956718		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	GWASCAT_DG	31527586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	32476818, 36994723	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	CTD_human_DG	26752265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	26752265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26752265		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	CTD_human_DG	26752265		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21975856		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	25345847		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	27268232		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	27268232	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	22868089		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11719247, 22393909, 31593562, 9020849		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32124191	Associate	★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	21755114		★☆☆☆☆ Found in Text Mining only
Huntington Disease-Like Syndrome	Huntington Disease-Like	BEFREE	29801887		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22144904	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	26850065		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	29879492	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	22493691, 27182965, 30367059, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASDB_DG	22493691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	GWASCAT_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31523939		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	21880993		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	20647273		★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	9344649		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	GWASCAT_DG	30254083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	33058338, 35787375, 36298819, 37202167	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30642433	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12700592		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 27399966, 28714469		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	10525976, 10768629, 10785256, 11844730, 11939898, 12614315, 15989765, 16687213, 17786457, 19169038, 21163215, 22042177, 24708620, 24972706, 26077168, 26362908, 26374734, 26490332, 30920184, 31523939, 7581386, 7839819, 8088802, 8162021, 8931575, 9020849, 9225982, 9448569, 9507387, 9762957		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31523939		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28117213		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21889984, 24866401, 26095883, 27597528		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	24866401	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	27103069	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15124760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	22605703	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	29497168	Stimulate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	8812488		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12545161		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26677855, 29869836		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12545161		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21610160, 29628143, 32989052, 33058338, 33433033, 39940702	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11689490, 12524342, 15342467, 16128876, 18250099, 20016785, 21610160, 21660502, 21889984, 23197749, 24229347, 24534762, 25098532, 25189117, 27531668, 28388438, 28955296, 29080331, 29772196, 29869836, 30144508, 30718627, 30982600, 30989774, 31257500, 31390360, 31593562, 31690171, 8546150, 9020849		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21880333		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	12810491, 15876341, 25259863		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	BEFREE	10525976		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18250099, 18297329, 20016785, 26850065, 30610379, 31766565		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	10399871, 9630233		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	12810491		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23571109	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24419231, 33660796	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12853230, 15378681, 15911147, 16687213, 17017535, 17440947, 18990604, 19672991, 21889984, 22037902, 25790475, 25866756, 26354989, 27597528, 27663142, 28462804, 29462666		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	17440947, 17923635		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29462666, 33433033	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	21479228, 22623900, 23936447, 28131822	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	19672991		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonian Disorders	Parkinson Disease	BEFREE	12451209, 12671950, 12810491, 12853230, 14732617, 15133829, 15911147, 15954136, 16687213, 17568014, 17923635, 21537950, 22491195, 23000299, 25189117, 25866756, 26362908, 27298447, 28124431, 28462804, 29715545, 31523939		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	LHGDN	12671950, 17712857, 18265007		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	25009551		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASDB_DG	25009551		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	21880333, 8902719		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11886365, 14571010, 15895552, 26054379		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	11886365, 14571010, 15895552, 26054379		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Phlebitis and thrombophlebitis	Phlebitis And Thrombophlebitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	29080331, 30342763		★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37967238	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29915338		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28124431, 8162021		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	31810584		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	21610160, 25098532		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	22605703	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	11374096		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21880993, 21975856		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21880993	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26051272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	26051272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	23172909		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24333172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24333172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary Open Angle Glaucoma	Open Angle Glaucoma	CTD_human_DG	26752265		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25630585	Stimulate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	21880333		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	21494015		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	21880993	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22491195, 22868089		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22072660		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	25630585		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	9429138	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 12	Spinocerebellar ataxia	Pubtator	32124191	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	10411345, 10415138, 10768629, 15989765, 17961920, 29432535, 8615077, 8931575, 9225982, 9507387, 9696528		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	10525984, 10573020, 10735276, 10814712, 10915763, 10973246, 11689490, 12524342, 12682323, 14732617, 14769358, 15148587, 15342467, 15504570, 16128876, 17420317, 17440947, 17961920, 18236424, 18297329, 18418684, 19618433, 19672991, 19676102, 20016785, 20095980, 20740007, 21307863, 21479228, 21537950, 21562247, 21610160, 21660502, 21670397, 21880993, 21934711, 21975856, 22035589, 22037902, 22507827, 22764223, 22868089, 22914732, 22916186, 22996397, 23172909, 23224816, 23635656, 23936447, 23959108, 24333172, 24718895, 24780439, 24972706, 25189117, 25285812, 25790475, 25902068, 26077168, 26086378, 26599997, 26861241, 27531668, 27597528, 27663142, 27791392, 28263872, 28405024, 28456900, 28525545, 28612427, 28648514, 28955296, 29427103, 29560813, 29756284, 29772202, 30194296, 30219976, 30611021, 30989774, 31376479, 31435879, 31743916, 31766565, 9106530, 9549522, 9668173, 9710044, 9779806, 9875622, 9918835		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	24488689		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 2	Spinocerebellar Ataxia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	11276099, 26077168, 9436730		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	10366224, 8968739		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	19224595, 20065139		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	11784712, 11986402, 17392519, 21479228, 21610160, 21880993, 21934711, 22666429, 22764223, 22916186, 23661442, 23936447, 23959108, 24674145, 25630585, 26086378, 27345804, 27345809, 27345815, 32340607, 32989052, 33284045, 33502644, 35787375, 37821389, 38128014, 8178818, 9106530, 9429138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	11804332, 21088341, 29316893	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36213324	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear ophthalmoplegia	Supranuclear ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	21610160, 29801076	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	GWASDB_DG	23297363		★☆☆☆☆ Found in Text Mining only
THROMBOCYTHEMIA 1	Thrombocythemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	23844121	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	8812488		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	BEFREE	21880993		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	30638962		★☆☆☆☆ Found in Text Mining only